Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.121137394A=CA2004733595TBCEL-TECTA,TECTAc.2942-27A= (n.2942-27A=)
c.249-27A=
c.3899-27A= (n.3899-27A=)
11g.121137394A>CCA2004733596TBCEL-TECTA,TECTAc.2942-27A>C (n.2942-27A>C)
c.249-27A>C
c.3899-27A>C (n.3899-27A>C)
 dbSNP
11g.121137395C>ACA2004733599TBCEL-TECTA,TECTAc.2942-26C>A (n.2942-26C>A)
c.249-26C>A
c.3899-26C>A (n.3899-26C>A)
 dbSNP
11g.121137395C=CA2004733597TBCEL-TECTA,TECTAc.2942-26C= (n.2942-26C=)
c.249-26C=
c.3899-26C= (n.3899-26C=)
11g.121137395C>TCA602580268TBCEL-TECTA,TECTAc.2942-26C>T (n.2942-26C>T)
c.249-26C>T
c.3899-26C>T (n.3899-26C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.121137396C=CA2004733600TBCEL-TECTA,TECTAc.2942-25C= (n.2942-25C=)
c.249-25C=
c.3899-25C= (n.3899-25C=)
11g.121137396C>TCA229825206TBCEL-TECTA,TECTAc.2942-25C>T (n.2942-25C>T)
c.249-25C>T
c.3899-25C>T (n.3899-25C>T)
 dbSNP gnomAD v4
11g.121137397C>ACA229825209TBCEL-TECTA,TECTAc.2942-24C>A (n.2942-24C>A)
c.249-24C>A
c.3899-24C>A (n.3899-24C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121137397C=CA2004733602TBCEL-TECTA,TECTAc.2942-24C= (n.2942-24C=)
c.249-24C=
c.3899-24C= (n.3899-24C=)
11g.121137397C>TCA6327116TBCEL-TECTA,TECTAc.2942-24C>T (n.2942-24C>T)
c.249-24C>T
c.3899-24C>T (n.3899-24C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121137398delCA2616511734TBCEL-TECTA,TECTAc.2942-23del (n.2942-23del)
c.249-23del
c.3899-23del (n.3899-23del)
 gnomAD v4
11g.121137398G>ACA6327117TBCEL-TECTA,TECTAc.2942-23G>A (n.2942-23G>A)
c.249-23G>A
c.3899-23G>A (n.3899-23G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121137398G=CA2004733604TBCEL-TECTA,TECTAc.2942-23G= (n.2942-23G=)
c.249-23G=
c.3899-23G= (n.3899-23G=)
11g.121137398G>TCA672601848TBCEL-TECTA,TECTAc.2942-23G>T (n.2942-23G>T)
c.249-23G>T
c.3899-23G>T (n.3899-23G>T)
 dbSNP gnomAD v3 gnomAD v4
11g.121137402_121137405delinsTCTCCA2004733606TBCEL-TECTA,TECTAc.2942-19_2942-16delinsTCTC (n.2942-19_2942-16delinsTCTC)
c.249-19_249-16delinsTCTC
c.3899-19_3899-16delinsTCTC (n.3899-19_3899-16delinsTCTC)
11g.121137403C=CA2004733607TBCEL-TECTA,TECTAc.2942-18C= (n.2942-18C=)
c.249-18C=
c.3899-18C= (n.3899-18C=)
11g.121137403C>GCA6327119TBCEL-TECTA,TECTAc.2942-18C>G (n.2942-18C>G)
c.249-18C>G
c.3899-18C>G (n.3899-18C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121137403C>TCA6327120TBCEL-TECTA,TECTAc.2942-18C>T (n.2942-18C>T)
c.249-18C>T
c.3899-18C>T (n.3899-18C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121137405_121137407delCA6327118TBCEL-TECTA,TECTAc.2942-16_2942-14del (n.2942-16_2942-14del)
c.249-16_249-14del
c.3899-16_3899-14del (n.3899-16_3899-14del)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121137404T>CCA6327121TBCEL-TECTA,TECTAc.2942-17T>C (n.2942-17T>C)
c.249-17T>C
c.3899-17T>C (n.3899-17T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121137404T=CA2004733609TBCEL-TECTA,TECTAc.2942-17T= (n.2942-17T=)
c.249-17T=
c.3899-17T= (n.3899-17T=)
11g.121137405C=CA2004733610TBCEL-TECTA,TECTAc.2942-16C= (n.2942-16C=)
c.249-16C=
c.3899-16C= (n.3899-16C=)
11g.121137405C>TCA6327122TBCEL-TECTA,TECTAc.2942-16C>T (n.2942-16C>T)
c.249-16C>T
c.3899-16C>T (n.3899-16C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121137406C=CA2004733611TBCEL-TECTA,TECTAc.2942-15C= (n.2942-15C=)
c.249-15C=
c.3899-15C= (n.3899-15C=)
11g.121137406C>TCA672601858TBCEL-TECTA,TECTAc.2942-15C>T (n.2942-15C>T)
c.249-15C>T
c.3899-15C>T (n.3899-15C>T)
 dbSNP gnomAD v3 gnomAD v4
11g.121137407T>ACA2616511735TBCEL-TECTA,TECTAc.2942-14T>A (n.2942-14T>A)
c.249-14T>A
c.3899-14T>A (n.3899-14T>A)
 gnomAD v4
11g.121137408T>CCA2616511736TBCEL-TECTA,TECTAc.2942-13T>C (n.2942-13T>C)
c.249-13T>C
c.3899-13T>C (n.3899-13T>C)
 gnomAD v4
11g.121137409G>TCA2616511737TBCEL-TECTA,TECTAc.2942-12G>T (n.2942-12G>T)
c.249-12G>T
c.3899-12G>T (n.3899-12G>T)
 gnomAD v4
11g.121137410A=CA2004733613TBCEL-TECTA,TECTAc.2942-11A= (n.2942-11A=)
c.249-11A=
c.3899-11A= (n.3899-11A=)
11g.121137410A>GCA942917327TBCEL-TECTA,TECTAc.2942-11A>G (n.2942-11A>G)
c.249-11A>G
c.3899-11A>G (n.3899-11A>G)
 dbSNP gnomAD v3 gnomAD v4
11g.121137410A>TCA602580269TBCEL-TECTA,TECTAc.2942-11A>T (n.2942-11A>T)
c.249-11A>T
c.3899-11A>T (n.3899-11A>T)
 dbSNP gnomAD v2 gnomAD v4
11g.121137411C=CA2004733614TBCEL-TECTA,TECTAc.2942-10C= (n.2942-10C=)
c.249-10C=
c.3899-10C= (n.3899-10C=)
11g.121137411C>TCA6327123TBCEL-TECTA,TECTAc.2942-10C>T (n.2942-10C>T)
c.249-10C>T
c.3899-10C>T (n.3899-10C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121137412C>ACA2575008415TBCEL-TECTA,TECTAc.2942-9C>A (n.2942-9C>A)
c.249-9C>A
c.3899-9C>A (n.3899-9C>A)
 gnomAD v4
11g.121137412C=CA2004733616TBCEL-TECTA,TECTAc.2942-9C= (n.2942-9C=)
c.249-9C=
c.3899-9C= (n.3899-9C=)
11g.121137412C>TCA672601867TBCEL-TECTA,TECTAc.2942-9C>T (n.2942-9C>T)
c.249-9C>T
c.3899-9C>T (n.3899-9C>T)
 dbSNP
11g.121137414C>ACA6327125TBCEL-TECTA,TECTAc.2942-7C>A (n.2942-7C>A)
c.249-7C>A
c.3899-7C>A (n.3899-7C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121137414C=CA2004733617TBCEL-TECTA,TECTAc.2942-7C= (n.2942-7C=)
c.249-7C=
c.3899-7C= (n.3899-7C=)
11g.121137414C>TCA6327124TBCEL-TECTA,TECTAc.2942-7C>T (n.2942-7C>T)
c.249-7C>T
c.3899-7C>T (n.3899-7C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121137415C=CA2004733619TBCEL-TECTA,TECTAc.2942-6C= (n.2942-6C=)
c.249-6C=
c.3899-6C= (n.3899-6C=)
11g.121137415C>GCA2004733620TBCEL-TECTA,TECTAc.2942-6C>G (n.2942-6C>G)
c.249-6C>G
c.3899-6C>G (n.3899-6C>G)
 ClinVar dbSNP
11g.121137415C>TCA6327126TBCEL-TECTA,TECTAc.2942-6C>T (n.2942-6C>T)
c.249-6C>T
c.3899-6C>T (n.3899-6C>T)
 dbSNP ExAC gnomAD v3 gnomAD v4
11g.121137416T>ACA942917328TBCEL-TECTA,TECTAc.2942-5T>A (n.2942-5T>A)
c.249-5T>A
c.3899-5T>A (n.3899-5T>A)
 dbSNP gnomAD v3 gnomAD v4
11g.121137416T>CCA602580270TBCEL-TECTA,TECTAc.2942-5T>C (n.2942-5T>C)
c.249-5T>C
c.3899-5T>C (n.3899-5T>C)
 dbSNP gnomAD v2
11g.121137416T=CA2004733622TBCEL-TECTA,TECTAc.2942-5T= (n.2942-5T=)
c.249-5T=
c.3899-5T= (n.3899-5T=)
11g.121137419_121137423delCA2616511738TBCEL-TECTA,TECTAc.2942-2_2944del
c.249-2_251del
c.3899-2_3901del
 gnomAD v4
11g.121137419A>CCA383018129TBCEL-TECTA,TECTAc.2942-2A>C (n.2942-2A>C)
c.249-2A>C
c.3899-2A>C (n.3899-2A>C)
11g.121137419A>GCA383018130TBCEL-TECTA,TECTAc.2942-2A>G (n.2942-2A>G)
c.249-2A>G
c.3899-2A>G (n.3899-2A>G)
11g.121137419A>TCA383018132TBCEL-TECTA,TECTAc.2942-2A>T (n.2942-2A>T)
c.249-2A>T
c.3899-2A>T (n.3899-2A>T)
11g.121137420G>ACA383018135TBCEL-TECTA,TECTAc.2942-1G>A (n.2942-1G>A)
c.249-1G>A
c.3899-1G>A (n.3899-1G>A)
 gnomAD v4
11g.121137420G>CCA383018137TBCEL-TECTA,TECTAc.2942-1G>C (n.2942-1G>C)
c.249-1G>C
c.3899-1G>C (n.3899-1G>C)
11g.121137420G>TCA383018134TBCEL-TECTA,TECTAc.2942-1G>T (n.2942-1G>T)
c.249-1G>T
c.3899-1G>T (n.3899-1G>T)
11g.121137421C>ACA383018140TBCEL-TECTA,TECTAc.2942C>A (p.Pro981Gln)
c.249C>A
c.3899C>A (p.Pro1300Gln)
11g.121137421C>GCA383018141TBCEL-TECTA,TECTAc.2942C>G (p.Pro981Arg)
c.249C>G
c.3899C>G (p.Pro1300Arg)
11g.121137421C>TCA383018143TBCEL-TECTA,TECTAc.2942C>T (p.Pro981Leu)
c.249C>T
c.3899C>T (p.Pro1300Leu)
11g.121137422A=CA2004733624TBCEL-TECTA,TECTAc.2943A= (p.Pro981=)
c.250A=
c.3900A= (p.Pro1300=)
11g.121137422A>CCA477382287TBCEL-TECTA,TECTAc.2943A>C (p.Pro981=)
c.250A>C
c.3900A>C (p.Pro1300=)
11g.121137422A>GCA6327127TBCEL-TECTA,TECTAc.2943A>G (p.Pro981=)
c.250A>G
c.3900A>G (p.Pro1300=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121137422A>TCA229825276TBCEL-TECTA,TECTAc.2943A>T (p.Pro981=)
c.250A>T
c.3900A>T (p.Pro1300=)
 dbSNP gnomAD v4
11g.121137423C>ACA383018149TBCEL-TECTA,TECTAc.2944C>A (p.Leu982Met)
c.251C>A
c.3901C>A (p.Leu1301Met)
11g.121137423C>GCA383018147TBCEL-TECTA,TECTAc.2944C>G (p.Leu982Val)
c.251C>G
c.3901C>G (p.Leu1301Val)
11g.121137423C>TCA477382290TBCEL-TECTA,TECTAc.2944C>T (p.Leu982=)
c.251C>T
c.3901C>T (p.Leu1301=)
 dbSNP gnomAD v4
11g.121137424T>ACA383018151TBCEL-TECTA,TECTAc.2945T>A (p.Leu982Gln)
c.252T>A
c.3902T>A (p.Leu1301Gln)
11g.121137424T>CCA136038TBCEL-TECTA,TECTAc.2945T>C (p.Leu982Pro)
c.252T>C
c.3902T>C (p.Leu1301Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121137424T>GCA383018154TBCEL-TECTA,TECTAc.2945T>G (p.Leu982Arg)
c.252T>G
c.3902T>G (p.Leu1301Arg)
11g.121137424T=CA2004733628TBCEL-TECTA,TECTAc.2945T= (p.Leu982=)
c.252T=
c.3902T= (p.Leu1301=)
11g.121137425G>ACA229825305TBCEL-TECTA,TECTAc.2946G>A (p.Leu982=)
c.253G>A
c.3903G>A (p.Leu1301=)
 dbSNP
11g.121137425G>CCA477382293TBCEL-TECTA,TECTAc.2946G>C (p.Leu982=)
c.253G>C
c.3903G>C (p.Leu1301=)
 dbSNP gnomAD v3 gnomAD v4
11g.121137425G=CA2004733632TBCEL-TECTA,TECTAc.2946G= (p.Leu982=)
c.253G=
c.3903G= (p.Leu1301=)
11g.121137425G>TCA477382294TBCEL-TECTA,TECTAc.2946G>T (p.Leu982=)
c.253G>T
c.3903G>T (p.Leu1301=)
 dbSNP gnomAD v2 gnomAD v4
11g.121137426G>ACA383018156TBCEL-TECTA,TECTAc.2947G>A (p.Glu983Lys)
c.254G>A
c.3904G>A (p.Glu1302Lys)
11g.121137426G>CCA383018158TBCEL-TECTA,TECTAc.2947G>C (p.Glu983Gln)
c.254G>C
c.3904G>C (p.Glu1302Gln)
 dbSNP
11g.121137426G=CA2004733634TBCEL-TECTA,TECTAc.2947G= (p.Glu983=)
c.254G=
c.3904G= (p.Glu1302=)
11g.121137426G>TCA383018160TBCEL-TECTA,TECTAc.2947G>T (p.Glu983Ter)
c.254G>T
c.3904G>T (p.Glu1302Ter)
11g.121137427A>CCA383018163TBCEL-TECTA,TECTAc.2948A>C (p.Glu983Ala)
c.255A>C
c.3905A>C (p.Glu1302Ala)
11g.121137427A>GCA383018167TBCEL-TECTA,TECTAc.2948A>G (p.Glu983Gly)
c.255A>G
c.3905A>G (p.Glu1302Gly)
11g.121137427A>TCA383018165TBCEL-TECTA,TECTAc.2948A>T (p.Glu983Val)
c.255A>T
c.3905A>T (p.Glu1302Val)
11g.121137428G>ACA477382302TBCEL-TECTA,TECTAc.2949G>A (p.Glu983=)
c.256G>A
c.3906G>A (p.Glu1302=)
11g.121137428G>CCA229825323TBCEL-TECTA,TECTAc.2949G>C (p.Glu983Asp)
c.256G>C
c.3906G>C (p.Glu1302Asp)
 dbSNP
11g.121137428G=CA2004733636TBCEL-TECTA,TECTAc.2949G= (p.Glu983=)
c.256G=
c.3906G= (p.Glu1302=)
11g.121137428G>TCA383018170TBCEL-TECTA,TECTAc.2949G>T (p.Glu983Asp)
c.256G>T
c.3906G>T (p.Glu1302Asp)
11g.121137429T>ACA383018172TBCEL-TECTA,TECTAc.2950T>A (p.Cys984Ser)
c.257T>A
c.3907T>A (p.Cys1303Ser)
11g.121137429T>CCA383018174TBCEL-TECTA,TECTAc.2950T>C (p.Cys984Arg)
c.257T>C
c.3907T>C (p.Cys1303Arg)
11g.121137429T>GCA383018176TBCEL-TECTA,TECTAc.2950T>G (p.Cys984Gly)
c.257T>G
c.3907T>G (p.Cys1303Gly)
 dbSNP gnomAD v2 gnomAD v4
11g.121137429T=CA2004733638TBCEL-TECTA,TECTAc.2950T= (p.Cys984=)
c.257T=
c.3907T= (p.Cys1303=)
11g.121137430G>ACA383018178TBCEL-TECTA,TECTAc.2951G>A (p.Cys984Tyr)
c.258G>A
c.3908G>A (p.Cys1303Tyr)
11g.121137430G>CCA383018180TBCEL-TECTA,TECTAc.2951G>C (p.Cys984Ser)
c.258G>C
c.3908G>C (p.Cys1303Ser)
11g.121137430G>TCA383018182TBCEL-TECTA,TECTAc.2951G>T (p.Cys984Phe)
c.258G>T
c.3908G>T (p.Cys1303Phe)
11g.121137431C>ACA383018186TBCEL-TECTA,TECTAc.2952C>A (p.Cys984Ter)
c.259C>A
c.3909C>A (p.Cys1303Ter)
11g.121137431C>GCA383018183TBCEL-TECTA,TECTAc.2952C>G (p.Cys984Trp)
c.259C>G
c.3909C>G (p.Cys1303Trp)
11g.121137431C>TCA477382314TBCEL-TECTA,TECTAc.2952C>T (p.Cys984=)
c.259C>T
c.3909C>T (p.Cys1303=)
11g.121137432C>ACA383018188TBCEL-TECTA,TECTAc.2953C>A (p.Pro985Thr)
c.260C>A
c.3910C>A (p.Pro1304Thr)
 COSMIC
11g.121137432C>GCA383018190TBCEL-TECTA,TECTAc.2953C>G (p.Pro985Ala)
c.260C>G
c.3910C>G (p.Pro1304Ala)
11g.121137432C>TCA383018192TBCEL-TECTA,TECTAc.2953C>T (p.Pro985Ser)
c.260C>T
c.3910C>T (p.Pro1304Ser)
11g.121137433C>ACA383018193TBCEL-TECTA,TECTAc.2954C>A (p.Pro985Gln)
c.261C>A
c.3911C>A (p.Pro1304Gln)
11g.121137433C>GCA383018195TBCEL-TECTA,TECTAc.2954C>G (p.Pro985Arg)
c.261C>G
c.3911C>G (p.Pro1304Arg)
11g.121137433C>TCA383018197TBCEL-TECTA,TECTAc.2954C>T (p.Pro985Leu)
c.261C>T
c.3911C>T (p.Pro1304Leu)
11g.121137434A>CCA477382318TBCEL-TECTA,TECTAc.2955A>C (p.Pro985=)
c.262A>C
c.3912A>C (p.Pro1304=)
 gnomAD v4
11g.121137434A>GCA477382319TBCEL-TECTA,TECTAc.2955A>G (p.Pro985=)
c.262A>G
c.3912A>G (p.Pro1304=)
11g.121137434A>TCA477382320TBCEL-TECTA,TECTAc.2955A>T (p.Pro985=)
c.262A>T
c.3912A>T (p.Pro1304=)
11g.121137435G>ACA383018199TBCEL-TECTA,TECTAc.2956G>A (p.Glu986Lys)
c.263G>A
c.3913G>A (p.Glu1305Lys)
11g.121137435G>CCA383018201TBCEL-TECTA,TECTAc.2956G>C (p.Glu986Gln)
c.263G>C
c.3913G>C (p.Glu1305Gln)
11g.121137435G>TCA383018200TBCEL-TECTA,TECTAc.2956G>T (p.Glu986Ter)
c.263G>T
c.3913G>T (p.Glu1305Ter)
11g.121137436A>CCA383018204TBCEL-TECTA,TECTAc.2957A>C (p.Glu986Ala)
c.264A>C
c.3914A>C (p.Glu1305Ala)
11g.121137436A>GCA383018206TBCEL-TECTA,TECTAc.2957A>G (p.Glu986Gly)
c.264A>G
c.3914A>G (p.Glu1305Gly)
11g.121137436A>TCA383018207TBCEL-TECTA,TECTAc.2957A>T (p.Glu986Val)
c.264A>T
c.3914A>T (p.Glu1305Val)
11g.121137437G>ACA477382322TBCEL-TECTA,TECTAc.2958G>A (p.Glu986=)
c.265G>A
c.3915G>A (p.Glu1305=)
 COSMIC
11g.121137437G>CCA383018210TBCEL-TECTA,TECTAc.2958G>C (p.Glu986Asp)
c.265G>C
c.3915G>C (p.Glu1305Asp)
11g.121137437G>TCA383018212TBCEL-TECTA,TECTAc.2958G>T (p.Glu986Asp)
c.265G>T
c.3915G>T (p.Glu1305Asp)
11g.121137438A>CCA383018215TBCEL-TECTA,TECTAc.2959A>C (p.Asn987His)
c.266A>C
c.3916A>C (p.Asn1306His)
11g.121137438A>GCA383018216TBCEL-TECTA,TECTAc.2959A>G (p.Asn987Asp)
c.266A>G
c.3916A>G (p.Asn1306Asp)
11g.121137438A>TCA383018218TBCEL-TECTA,TECTAc.2959A>T (p.Asn987Tyr)
c.266A>T
c.3916A>T (p.Asn1306Tyr)
11g.121137439A=CA2004733641TBCEL-TECTA,TECTAc.2960A= (p.Asn987=)
c.267A=
c.3917A= (p.Asn1306=)
11g.121137439A>CCA6327128TBCEL-TECTA,TECTAc.2960A>C (p.Asn987Thr)
c.267A>C
c.3917A>C (p.Asn1306Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121137439A>GCA383018221TBCEL-TECTA,TECTAc.2960A>G (p.Asn987Ser)
c.267A>G
c.3917A>G (p.Asn1306Ser)
11g.121137439A>TCA6327129TBCEL-TECTA,TECTAc.2960A>T (p.Asn987Ile)
c.267A>T
c.3917A>T (p.Asn1306Ile)
 dbSNP ExAC gnomAD v2
11g.121137440C>ACA383018225TBCEL-TECTA,TECTAc.2961C>A (p.Asn987Lys)
c.268C>A
c.3918C>A (p.Asn1306Lys)
11g.121137440C>GCA383018227TBCEL-TECTA,TECTAc.2961C>G (p.Asn987Lys)
c.268C>G
c.3918C>G (p.Asn1306Lys)
 gnomAD v4
11g.121137440C>TCA477382327TBCEL-TECTA,TECTAc.2961C>T (p.Asn987=)
c.268C>T
c.3918C>T (p.Asn1306=)
11g.121137441A>CCA383018229TBCEL-TECTA,TECTAc.2962A>C (p.Ser988Arg)
c.269A>C
c.3919A>C (p.Ser1307Arg)
11g.121137441A>GCA383018231TBCEL-TECTA,TECTAc.2962A>G (p.Ser988Gly)
c.269A>G
c.3919A>G (p.Ser1307Gly)
11g.121137441A>TCA383018233TBCEL-TECTA,TECTAc.2962A>T (p.Ser988Cys)
c.269A>T
c.3919A>T (p.Ser1307Cys)
11g.121137442G>ACA383018235TBCEL-TECTA,TECTAc.2963G>A (p.Ser988Asn)
c.270G>A
c.3920G>A (p.Ser1307Asn)
11g.121137442G>CCA383018237TBCEL-TECTA,TECTAc.2963G>C (p.Ser988Thr)
c.270G>C
c.3920G>C (p.Ser1307Thr)
11g.121137442G>TCA383018238TBCEL-TECTA,TECTAc.2963G>T (p.Ser988Ile)
c.270G>T
c.3920G>T (p.Ser1307Ile)
11g.121137443C>ACA383018239TBCEL-TECTA,TECTAc.2964C>A (p.Ser988Arg)
c.271C>A
c.3921C>A (p.Ser1307Arg)
11g.121137443C=CA2004733643TBCEL-TECTA,TECTAc.2964C= (p.Ser988=)
c.271C=
c.3921C= (p.Ser1307=)
11g.121137443C>GCA383018241TBCEL-TECTA,TECTAc.2964C>G (p.Ser988Arg)
c.271C>G
c.3921C>G (p.Ser1307Arg)
11g.121137443C>TCA477382333TBCEL-TECTA,TECTAc.2964C>T (p.Ser988=)
c.271C>T
c.3921C>T (p.Ser1307=)
 dbSNP
11g.121137444C>ACA383018242TBCEL-TECTA,TECTAc.2965C>A (p.His989Asn)
c.272C>A
c.3922C>A (p.His1308Asn)
11g.121137444C>GCA383018244TBCEL-TECTA,TECTAc.2965C>G (p.His989Asp)
c.272C>G
c.3922C>G (p.His1308Asp)
11g.121137444C>TCA383018246TBCEL-TECTA,TECTAc.2965C>T (p.His989Tyr)
c.272C>T
c.3922C>T (p.His1308Tyr)
11g.121137445A>CCA383018248TBCEL-TECTA,TECTAc.2966A>C (p.His989Pro)
c.273A>C
c.3923A>C (p.His1308Pro)
11g.121137445A>GCA383018250TBCEL-TECTA,TECTAc.2966A>G (p.His989Arg)
c.273A>G
c.3923A>G (p.His1308Arg)
11g.121137445A>TCA383018252TBCEL-TECTA,TECTAc.2966A>T (p.His989Leu)
c.273A>T
c.3923A>T (p.His1308Leu)
11g.121137446C>ACA6327130TBCEL-TECTA,TECTAc.2967C>A (p.His989Gln)
c.274C>A
c.3924C>A (p.His1308Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121137446C=CA2004733646TBCEL-TECTA,TECTAc.2967C= (p.His989=)
c.274C=
c.3924C= (p.His1308=)
11g.121137446C>GCA383018255TBCEL-TECTA,TECTAc.2967C>G (p.His989Gln)
c.274C>G
c.3924C>G (p.His1308Gln)
11g.121137446C>TCA477382341TBCEL-TECTA,TECTAc.2967C>T (p.His989=)
c.274C>T
c.3924C>T (p.His1308=)
11g.121137447T>ACA383018258TBCEL-TECTA,TECTAc.2968T>A (p.Phe990Ile)
c.275T>A
c.3925T>A (p.Phe1309Ile)
11g.121137447T>CCA383018260TBCEL-TECTA,TECTAc.2968T>C (p.Phe990Leu)
c.275T>C
c.3925T>C (p.Phe1309Leu)
 ClinVar
11g.121137447T>GCA383018262TBCEL-TECTA,TECTAc.2968T>G (p.Phe990Val)
c.275T>G
c.3925T>G (p.Phe1309Val)
11g.121137448T>ACA383018264TBCEL-TECTA,TECTAc.2969T>A (p.Phe990Tyr)
c.276T>A
c.3926T>A (p.Phe1309Tyr)
11g.121137448T>CCA383018266TBCEL-TECTA,TECTAc.2969T>C (p.Phe990Ser)
c.276T>C
c.3926T>C (p.Phe1309Ser)
11g.121137448T>GCA383018268TBCEL-TECTA,TECTAc.2969T>G (p.Phe990Cys)
c.276T>G
c.3926T>G (p.Phe1309Cys)
 dbSNP gnomAD v4
11g.121137448T=CA2004733648TBCEL-TECTA,TECTAc.2969T= (p.Phe990=)
c.276T=
c.3926T= (p.Phe1309=)
11g.121137449T>ACA383018270TBCEL-TECTA,TECTAc.2970T>A (p.Phe990Leu)
c.277T>A
c.3927T>A (p.Phe1309Leu)
 gnomAD v4
11g.121137449T>CCA477382342TBCEL-TECTA,TECTAc.2970T>C (p.Phe990=)
c.277T>C
c.3927T>C (p.Phe1309=)
 dbSNP gnomAD v3 gnomAD v4
11g.121137449T>GCA383018272TBCEL-TECTA,TECTAc.2970T>G (p.Phe990Leu)
c.277T>G
c.3927T>G (p.Phe1309Leu)
11g.121137449T=CA2004733650TBCEL-TECTA,TECTAc.2970T= (p.Phe990=)
c.277T=
c.3927T= (p.Phe1309=)
11g.121137450G>ACA383018274TBCEL-TECTA,TECTAc.2971G>A (p.Glu991Lys)
c.278G>A
c.3928G>A (p.Glu1310Lys)
 gnomAD v4
11g.121137450G>CCA383018276TBCEL-TECTA,TECTAc.2971G>C (p.Glu991Gln)
c.278G>C
c.3928G>C (p.Glu1310Gln)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.121137450G=CA2004733652TBCEL-TECTA,TECTAc.2971G= (p.Glu991=)
c.278G=
c.3928G= (p.Glu1310=)
11g.121137450G>TCA383018277TBCEL-TECTA,TECTAc.2971G>T (p.Glu991Ter)
c.278G>T
c.3928G>T (p.Glu1310Ter)
 dbSNP
11g.121137451A>CCA383018280TBCEL-TECTA,TECTAc.2972A>C (p.Glu991Ala)
c.279A>C
c.3929A>C (p.Glu1310Ala)
11g.121137451A>GCA383018283TBCEL-TECTA,TECTAc.2972A>G (p.Glu991Gly)
c.279A>G
c.3929A>G (p.Glu1310Gly)
11g.121137451A>TCA383018281TBCEL-TECTA,TECTAc.2972A>T (p.Glu991Val)
c.279A>T
c.3929A>T (p.Glu1310Val)
 dbSNP COSMIC
11g.121137452G>ACA477382349TBCEL-TECTA,TECTAc.2973G>A (p.Glu991=)
c.280G>A
c.3930G>A (p.Glu1310=)
11g.121137452G>CCA383018286TBCEL-TECTA,TECTAc.2973G>C (p.Glu991Asp)
c.280G>C
c.3930G>C (p.Glu1310Asp)
 dbSNP gnomAD v2 gnomAD v4
11g.121137452G=CA2004733654TBCEL-TECTA,TECTAc.2973G= (p.Glu991=)
c.280G=
c.3930G= (p.Glu1310=)
11g.121137452G>TCA383018287TBCEL-TECTA,TECTAc.2973G>T (p.Glu991Asp)
c.280G>T
c.3930G>T (p.Glu1310Asp)
 dbSNP gnomAD v4
11g.121137453G>ACA383018288TBCEL-TECTA,TECTAc.2974G>A (p.Glu992Lys)
c.281G>A
c.3931G>A (p.Glu1311Lys)
11g.121137453G>CCA383018290TBCEL-TECTA,TECTAc.2974G>C (p.Glu992Gln)
c.281G>C
c.3931G>C (p.Glu1311Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121137453G=CA2004733655TBCEL-TECTA,TECTAc.2974G= (p.Glu992=)
c.281G=
c.3931G= (p.Glu1311=)
11g.121137453G>TCA383018289TBCEL-TECTA,TECTAc.2974G>T (p.Glu992Ter)
c.281G>T
c.3931G>T (p.Glu1311Ter)
11g.121137454A=CA2004733657TBCEL-TECTA,TECTAc.2975A= (p.Glu992=)
c.282A=
c.3932A= (p.Glu1311=)
11g.121137454A>CCA383018292TBCEL-TECTA,TECTAc.2975A>C (p.Glu992Ala)
c.282A>C
c.3932A>C (p.Glu1311Ala)
11g.121137454A>GCA6327131TBCEL-TECTA,TECTAc.2975A>G (p.Glu992Gly)
c.282A>G
c.3932A>G (p.Glu1311Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121137454A>TCA383018294TBCEL-TECTA,TECTAc.2975A>T (p.Glu992Val)
c.282A>T
c.3932A>T (p.Glu1311Val)
11g.121137455G>ACA477382351TBCEL-TECTA,TECTAc.2976G>A (p.Glu992=)
c.283G>A
c.3933G>A (p.Glu1311=)
 dbSNP
11g.121137455G>CCA383018297TBCEL-TECTA,TECTAc.2976G>C (p.Glu992Asp)
c.283G>C
c.3933G>C (p.Glu1311Asp)
11g.121137455G=CA2004733658TBCEL-TECTA,TECTAc.2976G= (p.Glu992=)
c.283G=
c.3933G= (p.Glu1311=)
11g.121137455G>TCA383018299TBCEL-TECTA,TECTAc.2976G>T (p.Glu992Asp)
c.283G>T
c.3933G>T (p.Glu1311Asp)
11g.121137456T>ACA383018301TBCEL-TECTA,TECTAc.2977T>A (p.Cys993Ser)
c.284T>A
c.3934T>A (p.Cys1312Ser)
11g.121137456T>CCA383018303TBCEL-TECTA,TECTAc.2977T>C (p.Cys993Arg)
c.284T>C
c.3934T>C (p.Cys1312Arg)
 COSMIC
11g.121137456T>GCA383018305TBCEL-TECTA,TECTAc.2977T>G (p.Cys993Gly)
c.284T>G
c.3934T>G (p.Cys1312Gly)
11g.121137457G>ACA383018311TBCEL-TECTA,TECTAc.2978G>A (p.Cys993Tyr)
c.285G>A
c.3935G>A (p.Cys1312Tyr)
 COSMIC
11g.121137457G>CCA383018308TBCEL-TECTA,TECTAc.2978G>C (p.Cys993Ser)
c.285G>C
c.3935G>C (p.Cys1312Ser)
11g.121137457G>TCA383018306TBCEL-TECTA,TECTAc.2978G>T (p.Cys993Phe)
c.285G>T
c.3935G>T (p.Cys1312Phe)
11g.121137458C>ACA383018313TBCEL-TECTA,TECTAc.2979C>A (p.Cys993Ter)
c.286C>A
c.3936C>A (p.Cys1312Ter)
11g.121137458C=CA2004733660TBCEL-TECTA,TECTAc.2979C= (p.Cys993=)
c.286C=
c.3936C= (p.Cys1312=)
11g.121137458C>GCA383018315TBCEL-TECTA,TECTAc.2979C>G (p.Cys993Trp)
c.286C>G
c.3936C>G (p.Cys1312Trp)
11g.121137458C>TCA6327132TBCEL-TECTA,TECTAc.2979C>T (p.Cys993=)
c.286C>T
c.3936C>T (p.Cys1312=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121137459A=CA2004733662TBCEL-TECTA,TECTAc.2980A= (p.Ile994=)
c.287A=
c.3937A= (p.Ile1313=)
11g.121137459A>CCA383018319TBCEL-TECTA,TECTAc.2980A>C (p.Ile994Leu)
c.287A>C
c.3937A>C (p.Ile1313Leu)
 dbSNP gnomAD v3 gnomAD v4
11g.121137459A>GCA383018320TBCEL-TECTA,TECTAc.2980A>G (p.Ile994Val)
c.287A>G
c.3937A>G (p.Ile1313Val)
 dbSNP gnomAD v2 gnomAD v4
11g.121137459A>TCA383018322TBCEL-TECTA,TECTAc.2980A>T (p.Ile994Phe)
c.287A>T
c.3937A>T (p.Ile1313Phe)
11g.121137460T>ACA383018325TBCEL-TECTA,TECTAc.2981T>A (p.Ile994Asn)
c.288T>A
c.3938T>A (p.Ile1313Asn)
11g.121137460T>CCA383018328TBCEL-TECTA,TECTAc.2981T>C (p.Ile994Thr)
c.288T>C
c.3938T>C (p.Ile1313Thr)
11g.121137460T>GCA383018327TBCEL-TECTA,TECTAc.2981T>G (p.Ile994Ser)
c.288T>G
c.3938T>G (p.Ile1313Ser)
11g.121137461C>ACA477382354TBCEL-TECTA,TECTAc.2982C>A (p.Ile994=)
c.289C>A
c.3939C>A (p.Ile1313=)
11g.121137461C>GCA383018331TBCEL-TECTA,TECTAc.2982C>G (p.Ile994Met)
c.289C>G
c.3939C>G (p.Ile1313Met)
11g.121137461C>TCA477382355TBCEL-TECTA,TECTAc.2982C>T (p.Ile994=)
c.289C>T
c.3939C>T (p.Ile1313=)
 COSMIC
11g.121137462A>CCA383018333TBCEL-TECTA,TECTAc.2983A>C (p.Thr995Pro)
c.290A>C
c.3940A>C (p.Thr1314Pro)
 gnomAD v4
11g.121137462A>GCA383018335TBCEL-TECTA,TECTAc.2983A>G (p.Thr995Ala)
c.290A>G
c.3940A>G (p.Thr1314Ala)
11g.121137462A>TCA383018336TBCEL-TECTA,TECTAc.2983A>T (p.Thr995Ser)
c.290A>T
c.3940A>T (p.Thr1314Ser)
11g.121137463C>ACA383018339TBCEL-TECTA,TECTAc.2984C>A (p.Thr995Lys)
c.291C>A
c.3941C>A (p.Thr1314Lys)
 COSMIC
11g.121137463C=CA2004733664TBCEL-TECTA,TECTAc.2984C= (p.Thr995=)
c.291C=
c.3941C= (p.Thr1314=)
11g.121137463C>GCA383018341TBCEL-TECTA,TECTAc.2984C>G (p.Thr995Arg)
c.291C>G
c.3941C>G (p.Thr1314Arg)
11g.121137463C>TCA6327133TBCEL-TECTA,TECTAc.2984C>T (p.Thr995Ile)
c.291C>T
c.3941C>T (p.Thr1314Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121137464A=CA2004733666TBCEL-TECTA,TECTAc.2985A= (p.Thr995=)
c.292A=
c.3942A= (p.Thr1314=)
11g.121137464A>CCA477382358TBCEL-TECTA,TECTAc.2985A>C (p.Thr995=)
c.292A>C
c.3942A>C (p.Thr1314=)
11g.121137464A>GCA6327134TBCEL-TECTA,TECTAc.2985A>G (p.Thr995=)
c.292A>G
c.3942A>G (p.Thr1314=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121137464A>TCA477382359TBCEL-TECTA,TECTAc.2985A>T (p.Thr995=)
c.292A>T
c.3942A>T (p.Thr1314=)
11g.121137465T>ACA383018345TBCEL-TECTA,TECTAc.2986T>A (p.Cys996Ser)
c.293T>A
c.3943T>A (p.Cys1315Ser)
11g.121137465T>CCA383018347TBCEL-TECTA,TECTAc.2986T>C (p.Cys996Arg)
c.293T>C
c.3943T>C (p.Cys1315Arg)
11g.121137465T>GCA383018348TBCEL-TECTA,TECTAc.2986T>G (p.Cys996Gly)
c.293T>G
c.3943T>G (p.Cys1315Gly)
 dbSNP gnomAD v2 gnomAD v4
11g.121137465T=CA2004733668TBCEL-TECTA,TECTAc.2986T= (p.Cys996=)
c.293T=
c.3943T= (p.Cys1315=)
11g.121137466G>ACA383018351TBCEL-TECTA,TECTAc.2987G>A (p.Cys996Tyr)
c.294G>A
c.3944G>A (p.Cys1315Tyr)
 dbSNP
11g.121137466G>CCA383018355TBCEL-TECTA,TECTAc.2987G>C (p.Cys996Ser)
c.294G>C
c.3944G>C (p.Cys1315Ser)
 ClinVar dbSNP
11g.121137466G=CA2004733670TBCEL-TECTA,TECTAc.2987G= (p.Cys996=)
c.294G=
c.3944G= (p.Cys1315=)
11g.121137466G>TCA383018353TBCEL-TECTA,TECTAc.2987G>T (p.Cys996Phe)
c.294G>T
c.3944G>T (p.Cys1315Phe)
11g.121137467T>ACA383018358TBCEL-TECTA,TECTAc.2988T>A (p.Cys996Ter)
c.295T>A
c.3945T>A (p.Cys1315Ter)
 gnomAD v4
11g.121137467T>CCA477382363TBCEL-TECTA,TECTAc.2988T>C (p.Cys996=)
c.295T>C
c.3945T>C (p.Cys1315=)
11g.121137467T>GCA383018359TBCEL-TECTA,TECTAc.2988T>G (p.Cys996Trp)
c.295T>G
c.3945T>G (p.Cys1315Trp)
11g.121137468A>CCA383018362TBCEL-TECTA,TECTAc.2989A>C (p.Thr997Pro)
c.296A>C
c.3946A>C (p.Thr1316Pro)
11g.121137468A>GCA383018364TBCEL-TECTA,TECTAc.2989A>G (p.Thr997Ala)
c.296A>G
c.3946A>G (p.Thr1316Ala)
 gnomAD v4
11g.121137468A>TCA383018365TBCEL-TECTA,TECTAc.2989A>T (p.Thr997Ser)
c.296A>T
c.3946A>T (p.Thr1316Ser)
11g.121137469C>ACA383018368TBCEL-TECTA,TECTAc.2990C>A (p.Thr997Lys)
c.297C>A
c.3947C>A (p.Thr1316Lys)
11g.121137469C=CA2004733672TBCEL-TECTA,TECTAc.2990C= (p.Thr997=)
c.297C=
c.3947C= (p.Thr1316=)
11g.121137469C>GCA383018370TBCEL-TECTA,TECTAc.2990C>G (p.Thr997Arg)
c.297C>G
c.3947C>G (p.Thr1316Arg)
11g.121137469C>TCA229825345TBCEL-TECTA,TECTAc.2990C>T (p.Thr997Ile)
c.297C>T
c.3947C>T (p.Thr1316Ile)
 dbSNP gnomAD v4
11g.121137470A>CCA477382366TBCEL-TECTA,TECTAc.2991A>C (p.Thr997=)
c.298A>C
c.3948A>C (p.Thr1316=)
11g.121137470A>GCA477382370TBCEL-TECTA,TECTAc.2991A>G (p.Thr997=)
c.298A>G
c.3948A>G (p.Thr1316=)
11g.121137470A>TCA477382364TBCEL-TECTA,TECTAc.2991A>T (p.Thr997=)
c.298A>T
c.3948A>T (p.Thr1316=)
11g.121137471G>ACA383018374TBCEL-TECTA,TECTAc.2992G>A (p.Glu998Lys)
c.299G>A
c.3949G>A (p.Glu1317Lys)
11g.121137471G>CCA383018376TBCEL-TECTA,TECTAc.2992G>C (p.Glu998Gln)
c.299G>C
c.3949G>C (p.Glu1317Gln)
11g.121137471G>TCA383018378TBCEL-TECTA,TECTAc.2992G>T (p.Glu998Ter)
c.299G>T
c.3949G>T (p.Glu1317Ter)
 dbSNP gnomAD v3 gnomAD v4
11g.121137472A>CCA383018384TBCEL-TECTA,TECTAc.2993A>C (p.Glu998Ala)
c.300A>C
c.3950A>C (p.Glu1317Ala)
11g.121137472A>GCA383018380TBCEL-TECTA,TECTAc.2993A>G (p.Glu998Gly)
c.300A>G
c.3950A>G (p.Glu1317Gly)
11g.121137472A>TCA383018382TBCEL-TECTA,TECTAc.2993A>T (p.Glu998Val)
c.300A>T
c.3950A>T (p.Glu1317Val)
11g.121137473G>ACA477382375TBCEL-TECTA,TECTAc.2994G>A (p.Glu998=)
c.301G>A
c.3951G>A (p.Glu1317=)
11g.121137473G>CCA383018385TBCEL-TECTA,TECTAc.2994G>C (p.Glu998Asp)
c.301G>C
c.3951G>C (p.Glu1317Asp)
 dbSNP gnomAD v2 gnomAD v4
11g.121137473G=CA2004733675TBCEL-TECTA,TECTAc.2994G= (p.Glu998=)
c.301G=
c.3951G= (p.Glu1317=)
11g.121137473G>TCA383018386TBCEL-TECTA,TECTAc.2994G>T (p.Glu998Asp)
c.301G>T
c.3951G>T (p.Glu1317Asp)
11g.121137474A=CA2004733676TBCEL-TECTA,TECTAc.2995A= (p.Thr999=)
c.302A=
c.3952A= (p.Thr1318=)
11g.121137474A>CCA383018389TBCEL-TECTA,TECTAc.2995A>C (p.Thr999Pro)
c.302A>C
c.3952A>C (p.Thr1318Pro)
11g.121137474A>GCA383018391TBCEL-TECTA,TECTAc.2995A>G (p.Thr999Ala)
c.302A>G
c.3952A>G (p.Thr1318Ala)
 ClinVar dbSNP gnomAD v4
11g.121137474A>TCA383018392TBCEL-TECTA,TECTAc.2995A>T (p.Thr999Ser)
c.302A>T
c.3952A>T (p.Thr1318Ser)
11g.121137475C>ACA383018395TBCEL-TECTA,TECTAc.2996C>A (p.Thr999Asn)
c.303C>A
c.3953C>A (p.Thr1318Asn)
11g.121137475C=CA2004733678TBCEL-TECTA,TECTAc.2996C= (p.Thr999=)
c.303C=
c.3953C= (p.Thr1318=)
11g.121137475C>GCA383018397TBCEL-TECTA,TECTAc.2996C>G (p.Thr999Ser)
c.303C>G
c.3953C>G (p.Thr1318Ser)
11g.121137475C>TCA6327135TBCEL-TECTA,TECTAc.2996C>T (p.Thr999Ile)
c.303C>T
c.3953C>T (p.Thr1318Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121137476C>ACA477382383TBCEL-TECTA,TECTAc.2997C>A (p.Thr999=)
c.304C>A
c.3954C>A (p.Thr1318=)
11g.121137476C=CA2004733680TBCEL-TECTA,TECTAc.2997C= (p.Thr999=)
c.304C=
c.3954C= (p.Thr1318=)
11g.121137476C>GCA477382384TBCEL-TECTA,TECTAc.2997C>G (p.Thr999=)
c.304C>G
c.3954C>G (p.Thr1318=)
 dbSNP gnomAD v3 gnomAD v4
11g.121137476C>TCA477382381TBCEL-TECTA,TECTAc.2997C>T (p.Thr999=)
c.304C>T
c.3954C>T (p.Thr1318=)
11g.121137477T>ACA383018401TBCEL-TECTA,TECTAc.2998T>A (p.Cys1000Ser)
c.305T>A
c.3955T>A (p.Cys1319Ser)
11g.121137477T>CCA383018402TBCEL-TECTA,TECTAc.2998T>C (p.Cys1000Arg)
c.305T>C
c.3955T>C (p.Cys1319Arg)
11g.121137477T>GCA383018403TBCEL-TECTA,TECTAc.2998T>G (p.Cys1000Gly)
c.305T>G
c.3955T>G (p.Cys1319Gly)
11g.121137478G>ACA383018408TBCEL-TECTA,TECTAc.2999G>A (p.Cys1000Tyr)
c.306G>A
c.3956G>A (p.Cys1319Tyr)
11g.121137478G>CCA383018409TBCEL-TECTA,TECTAc.2999G>C (p.Cys1000Ser)
c.306G>C
c.3956G>C (p.Cys1319Ser)
11g.121137478G>TCA383018406TBCEL-TECTA,TECTAc.2999G>T (p.Cys1000Phe)
c.306G>T
c.3956G>T (p.Cys1319Phe)
11g.121137479T>ACA383018413TBCEL-TECTA,TECTAc.3000T>A (p.Cys1000Ter)
c.307T>A
c.3957T>A (p.Cys1319Ter)
11g.121137479T>CCA477382387TBCEL-TECTA,TECTAc.3000T>C (p.Cys1000=)
c.307T>C
c.3957T>C (p.Cys1319=)
11g.121137479T>GCA383018411TBCEL-TECTA,TECTAc.3000T>G (p.Cys1000Trp)
c.307T>G
c.3957T>G (p.Cys1319Trp)
 gnomAD v4
11g.121137480G>ACA383018416TBCEL-TECTA,TECTAc.3001G>A (p.Glu1001Lys)
c.308G>A
c.3958G>A (p.Glu1320Lys)
 COSMIC
11g.121137480G>CCA383018417TBCEL-TECTA,TECTAc.3001G>C (p.Glu1001Gln)
c.308G>C
c.3958G>C (p.Glu1320Gln)
 COSMIC
11g.121137480G>TCA383018419TBCEL-TECTA,TECTAc.3001G>T (p.Glu1001Ter)
c.308G>T
c.3958G>T (p.Glu1320Ter)
11g.121137481A>CCA383018422TBCEL-TECTA,TECTAc.3002A>C (p.Glu1001Ala)
c.309A>C
c.3959A>C (p.Glu1320Ala)
11g.121137481A>GCA383018424TBCEL-TECTA,TECTAc.3002A>G (p.Glu1001Gly)
c.309A>G
c.3959A>G (p.Glu1320Gly)
11g.121137481A>TCA383018426TBCEL-TECTA,TECTAc.3002A>T (p.Glu1001Val)
c.309A>T
c.3959A>T (p.Glu1320Val)
11g.121137482G>ACA477382394TBCEL-TECTA,TECTAc.3003G>A (p.Glu1001=)
c.310G>A
c.3960G>A (p.Glu1320=)
11g.121137482G>CCA383018428TBCEL-TECTA,TECTAc.3003G>C (p.Glu1001Asp)
c.310G>C
c.3960G>C (p.Glu1320Asp)
11g.121137482G>TCA383018430TBCEL-TECTA,TECTAc.3003G>T (p.Glu1001Asp)
c.310G>T
c.3960G>T (p.Glu1320Asp)
11g.121137483A=CA2004733682TBCEL-TECTA,TECTAc.3004A= (p.Thr1002=)
c.311A=
c.3961A= (p.Thr1321=)
11g.121137483A>CCA383018432TBCEL-TECTA,TECTAc.3004A>C (p.Thr1002Pro)
c.311A>C
c.3961A>C (p.Thr1321Pro)
11g.121137483A>GCA383018434TBCEL-TECTA,TECTAc.3004A>G (p.Thr1002Ala)
c.311A>G
c.3961A>G (p.Thr1321Ala)
 dbSNP gnomAD v2 gnomAD v4
11g.121137483A>TCA383018436TBCEL-TECTA,TECTAc.3004A>T (p.Thr1002Ser)
c.311A>T
c.3961A>T (p.Thr1321Ser)
11g.121137484C>ACA6327136TBCEL-TECTA,TECTAc.3005C>A (p.Thr1002Asn)
c.312C>A
c.3962C>A (p.Thr1321Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121137484C=CA2004733684TBCEL-TECTA,TECTAc.3005C= (p.Thr1002=)
c.312C=
c.3962C= (p.Thr1321=)
11g.121137484C>GCA383018441TBCEL-TECTA,TECTAc.3005C>G (p.Thr1002Ser)
c.312C>G
c.3962C>G (p.Thr1321Ser)
11g.121137484C>TCA383018438TBCEL-TECTA,TECTAc.3005C>T (p.Thr1002Ile)
c.312C>T
c.3962C>T (p.Thr1321Ile)
 dbSNP
11g.121137485C>ACA477382401TBCEL-TECTA,TECTAc.3006C>A (p.Thr1002=)
c.313C>A
c.3963C>A (p.Thr1321=)
11g.121137485C=CA2004733687TBCEL-TECTA,TECTAc.3006C= (p.Thr1002=)
c.313C=
c.3963C= (p.Thr1321=)
11g.121137485C>GCA6327137TBCEL-TECTA,TECTAc.3006C>G (p.Thr1002=)
c.313C>G
c.3963C>G (p.Thr1321=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121137485C>TCA477382403TBCEL-TECTA,TECTAc.3006C>T (p.Thr1002=)
c.313C>T
c.3963C>T (p.Thr1321=)
 dbSNP gnomAD v2 gnomAD v4
11g.121137486C>ACA383018446TBCEL-TECTA,TECTAc.3007C>A (p.Leu1003Ile)
c.314C>A
c.3964C>A (p.Leu1322Ile)
11g.121137486C>GCA383018447TBCEL-TECTA,TECTAc.3007C>G (p.Leu1003Val)
c.314C>G
c.3964C>G (p.Leu1322Val)
11g.121137486C>TCA383018449TBCEL-TECTA,TECTAc.3007C>T (p.Leu1003Phe)
c.314C>T
c.3964C>T (p.Leu1322Phe)
11g.121137487T>ACA383018452TBCEL-TECTA,TECTAc.3008T>A (p.Leu1003His)
c.315T>A
c.3965T>A (p.Leu1322His)
11g.121137487T>CCA383018454TBCEL-TECTA,TECTAc.3008T>C (p.Leu1003Pro)
c.315T>C
c.3965T>C (p.Leu1322Pro)
 gnomAD v4
11g.121137487T>GCA383018456TBCEL-TECTA,TECTAc.3008T>G (p.Leu1003Arg)
c.315T>G
c.3965T>G (p.Leu1322Arg)
11g.121137488T>ACA477382407TBCEL-TECTA,TECTAc.3009T>A (p.Leu1003=)
c.316T>A
c.3966T>A (p.Leu1322=)
11g.121137488T>CCA477382409TBCEL-TECTA,TECTAc.3009T>C (p.Leu1003=)
c.316T>C
c.3966T>C (p.Leu1322=)
 gnomAD v4
11g.121137488T>GCA477382410TBCEL-TECTA,TECTAc.3009T>G (p.Leu1003=)
c.316T>G
c.3966T>G (p.Leu1322=)
11g.121137489A=CA2004733689TBCEL-TECTA,TECTAc.3010A= (p.Thr1004=)
c.317A=
c.3967A= (p.Thr1323=)
11g.121137489A>CCA383018458TBCEL-TECTA,TECTAc.3010A>C (p.Thr1004Pro)
c.317A>C
c.3967A>C (p.Thr1323Pro)
 dbSNP
11g.121137489A>GCA383018460TBCEL-TECTA,TECTAc.3010A>G (p.Thr1004Ala)
c.317A>G
c.3967A>G (p.Thr1323Ala)
 dbSNP
11g.121137489A>TCA383018462TBCEL-TECTA,TECTAc.3010A>T (p.Thr1004Ser)
c.317A>T
c.3967A>T (p.Thr1323Ser)
11g.121137490C>ACA383018464TBCEL-TECTA,TECTAc.3011C>A (p.Thr1004Asn)
c.318C>A
c.3968C>A (p.Thr1323Asn)
 dbSNP
11g.121137490C=CA2004733691TBCEL-TECTA,TECTAc.3011C= (p.Thr1004=)
c.318C=
c.3968C= (p.Thr1323=)
11g.121137490C>GCA383018466TBCEL-TECTA,TECTAc.3011C>G (p.Thr1004Ser)
c.318C>G
c.3968C>G (p.Thr1323Ser)
11g.121137490C>TCA383018468TBCEL-TECTA,TECTAc.3011C>T (p.Thr1004Ile)
c.318C>T
c.3968C>T (p.Thr1323Ile)
 gnomAD v4
11g.121137491C>ACA477382415TBCEL-TECTA,TECTAc.3012C>A (p.Thr1004=)
c.319C>A
c.3969C>A (p.Thr1323=)
11g.121137491C=CA2004733692TBCEL-TECTA,TECTAc.3012C= (p.Thr1004=)
c.319C=
c.3969C= (p.Thr1323=)
11g.121137491C>GCA136040TBCEL-TECTA,TECTAc.3012C>G (p.Thr1004=)
c.319C>G
c.3969C>G (p.Thr1323=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121137491C>TCA477382419TBCEL-TECTA,TECTAc.3012C>T (p.Thr1004=)
c.319C>T
c.3969C>T (p.Thr1323=)
11g.121137492C>ACA383018473TBCEL-TECTA,TECTAc.3013C>A (p.Leu1005Met)
c.320C>A
c.3970C>A (p.Leu1324Met)
11g.121137492C>GCA383018472TBCEL-TECTA,TECTAc.3013C>G (p.Leu1005Val)
c.320C>G
c.3970C>G (p.Leu1324Val)
11g.121137492C>TCA477382420TBCEL-TECTA,TECTAc.3013C>T (p.Leu1005=)
c.320C>T
c.3970C>T (p.Leu1324=)
11g.121137493T>ACA383018476TBCEL-TECTA,TECTAc.3014T>A (p.Leu1005Gln)
c.321T>A
c.3971T>A (p.Leu1324Gln)
11g.121137493T>CCA383018478TBCEL-TECTA,TECTAc.3014T>C (p.Leu1005Pro)
c.321T>C
c.3971T>C (p.Leu1324Pro)
11g.121137493T>GCA383018480TBCEL-TECTA,TECTAc.3014T>G (p.Leu1005Arg)
c.321T>G
c.3971T>G (p.Leu1324Arg)
11g.121137494G>ACA6327138TBCEL-TECTA,TECTAc.3015G>A (p.Leu1005=)
c.322G>A
c.3972G>A (p.Leu1324=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121137494G>CCA477382425TBCEL-TECTA,TECTAc.3015G>C (p.Leu1005=)
c.322G>C
c.3972G>C (p.Leu1324=)
11g.121137494G=CA2004733695TBCEL-TECTA,TECTAc.3015G= (p.Leu1005=)
c.322G=
c.3972G= (p.Leu1324=)
11g.121137494G>TCA477382426TBCEL-TECTA,TECTAc.3015G>T (p.Leu1005=)
c.322G>T
c.3972G>T (p.Leu1324=)

Number of alleles fetched