Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.121137358_121137361delCA2616511719TBCEL-TECTA,TECTAc.2942-63_2942-60del (n.2942-63_2942-60del)
c.249-63_249-60del
c.3899-63_3899-60del (n.3899-63_3899-60del)
 gnomAD v4
11g.121137358_121137363delCA2510875698TBCEL-TECTA,TECTAc.2942-63_2942-58del (n.2942-63_2942-58del)
c.249-63_249-58del
c.3899-63_3899-58del (n.3899-63_3899-58del)
11g.121137360_121137363dupCA2793886317TBCEL-TECTA,TECTAc.2942-61_2942-58dup (n.2942-61_2942-58dup)
c.249-61_249-58dup
c.3899-61_3899-58dup (n.3899-61_3899-58dup)
11g.121137361C>ACA2616511725TBCEL-TECTA,TECTAc.2942-60C>A (n.2942-60C>A)
c.249-60C>A
c.3899-60C>A (n.3899-60C>A)
 gnomAD v4
11g.121137361C>TCA2725114045TBCEL-TECTA,TECTAc.2942-60C>T (n.2942-60C>T)
c.249-60C>T
c.3899-60C>T (n.3899-60C>T)
 dbSNP
11g.121137363C>GCA2575008412TBCEL-TECTA,TECTAc.2942-58C>G (n.2942-58C>G)
c.249-58C>G
c.3899-58C>G (n.3899-58C>G)
 gnomAD v4
11g.121137363C>TCA2533248928TBCEL-TECTA,TECTAc.2942-58C>T (n.2942-58C>T)
c.249-58C>T
c.3899-58C>T (n.3899-58C>T)
 gnomAD v4
11g.121137364T>GCA2616511726TBCEL-TECTA,TECTAc.2942-57T>G (n.2942-57T>G)
c.249-57T>G
c.3899-57T>G (n.3899-57T>G)
 gnomAD v4
11g.121137366C>ACA229825147TBCEL-TECTA,TECTAc.2942-55C>A (n.2942-55C>A)
c.249-55C>A
c.3899-55C>A (n.3899-55C>A)
 dbSNP gnomAD v3 gnomAD v4
11g.121137366C=CA2004733580TBCEL-TECTA,TECTAc.2942-55C= (n.2942-55C=)
c.249-55C=
c.3899-55C= (n.3899-55C=)
11g.121137366C>GCA2553416533TBCEL-TECTA,TECTAc.2942-55C>G (n.2942-55C>G)
c.249-55C>G
c.3899-55C>G (n.3899-55C>G)
11g.121137366C>TCA2616511727TBCEL-TECTA,TECTAc.2942-55C>T (n.2942-55C>T)
c.249-55C>T
c.3899-55C>T (n.3899-55C>T)
 gnomAD v4
11g.121137367T>CCA229825149TBCEL-TECTA,TECTAc.2942-54T>C (n.2942-54T>C)
c.249-54T>C
c.3899-54T>C (n.3899-54T>C)
 dbSNP
11g.121137367T=CA2004733581TBCEL-TECTA,TECTAc.2942-54T= (n.2942-54T=)
c.249-54T=
c.3899-54T= (n.3899-54T=)
11g.121137368G>CCA942917310TBCEL-TECTA,TECTAc.2942-53G>C (n.2942-53G>C)
c.249-53G>C
c.3899-53G>C (n.3899-53G>C)
 dbSNP gnomAD v4
11g.121137368G=CA2004733582TBCEL-TECTA,TECTAc.2942-53G= (n.2942-53G=)
c.249-53G=
c.3899-53G= (n.3899-53G=)
11g.121137372_121137373delCA2616511728TBCEL-TECTA,TECTAc.2942-49_2942-48del (n.2942-49_2942-48del)
c.249-49_249-48del
c.3899-49_3899-48del (n.3899-49_3899-48del)
 gnomAD v4
11g.121137370C>ACA2505590827TBCEL-TECTA,TECTAc.2942-51C>A (n.2942-51C>A)
c.249-51C>A
c.3899-51C>A (n.3899-51C>A)
11g.121137372C=CA2004733583TBCEL-TECTA,TECTAc.2942-49C= (n.2942-49C=)
c.249-49C=
c.3899-49C= (n.3899-49C=)
11g.121137372C>TCA6327111TBCEL-TECTA,TECTAc.2942-49C>T (n.2942-49C>T)
c.249-49C>T
c.3899-49C>T (n.3899-49C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121137375_121137383delinsACTTTTGTCCA2004733584TBCEL-TECTA,TECTAc.2942-46_2942-38delinsACTTTTGTC (n.2942-46_2942-38delinsACTTTTGTC)
c.249-46_249-38delinsACTTTTGTC
c.3899-46_3899-38delinsACTTTTGTC (n.3899-46_3899-38delinsACTTTTGTC)
11g.121137376C>ACA6327113TBCEL-TECTA,TECTAc.2942-45C>A (n.2942-45C>A)
c.249-45C>A
c.3899-45C>A (n.3899-45C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121137376C=CA2004733586TBCEL-TECTA,TECTAc.2942-45C= (n.2942-45C=)
c.249-45C=
c.3899-45C= (n.3899-45C=)
11g.121137376C>TCA2616511729TBCEL-TECTA,TECTAc.2942-45C>T (n.2942-45C>T)
c.249-45C>T
c.3899-45C>T (n.3899-45C>T)
 gnomAD v4
11g.121137381_121137388delCA6327112TBCEL-TECTA,TECTAc.2942-40_2942-33del (n.2942-40_2942-33del)
c.249-40_249-33del
c.3899-40_3899-33del (n.3899-40_3899-33del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121137377T>CCA2616511730TBCEL-TECTA,TECTAc.2942-44T>C (n.2942-44T>C)
c.249-44T>C
c.3899-44T>C (n.3899-44T>C)
 gnomAD v4
11g.121137379T>CCA6327114TBCEL-TECTA,TECTAc.2942-42T>C (n.2942-42T>C)
c.249-42T>C
c.3899-42T>C (n.3899-42T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121137379T>GCA2616511731TBCEL-TECTA,TECTAc.2942-42T>G (n.2942-42T>G)
c.249-42T>G
c.3899-42T>G (n.3899-42T>G)
 gnomAD v4
11g.121137379T=CA2004733587TBCEL-TECTA,TECTAc.2942-42T= (n.2942-42T=)
c.249-42T=
c.3899-42T= (n.3899-42T=)
11g.121137380T>ACA2616511732TBCEL-TECTA,TECTAc.2942-41T>A (n.2942-41T>A)
c.249-41T>A
c.3899-41T>A (n.3899-41T>A)
 gnomAD v4
11g.121137380T>CCA2725114049TBCEL-TECTA,TECTAc.2942-41T>C (n.2942-41T>C)
c.249-41T>C
c.3899-41T>C (n.3899-41T>C)
 dbSNP
11g.121137381G>TCA2793886318TBCEL-TECTA,TECTAc.2942-40G>T (n.2942-40G>T)
c.249-40G>T
c.3899-40G>T (n.3899-40G>T)
11g.121137382T>ACA2004733589TBCEL-TECTA,TECTAc.2942-39T>A (n.2942-39T>A)
c.249-39T>A
c.3899-39T>A (n.3899-39T>A)
 dbSNP
11g.121137382T=CA2004733588TBCEL-TECTA,TECTAc.2942-39T= (n.2942-39T=)
c.249-39T=
c.3899-39T= (n.3899-39T=)
11g.121137383C=CA2004733591TBCEL-TECTA,TECTAc.2942-38C= (n.2942-38C=)
c.249-38C=
c.3899-38C= (n.3899-38C=)
11g.121137383C>GCA6327115TBCEL-TECTA,TECTAc.2942-38C>G (n.2942-38C>G)
c.249-38C>G
c.3899-38C>G (n.3899-38C>G)
 dbSNP ExAC gnomAD v2
11g.121137385T>GCA2793886319TBCEL-TECTA,TECTAc.2942-36T>G (n.2942-36T>G)
c.249-36T>G
c.3899-36T>G (n.3899-36T>G)
11g.121137389C>TCA2616511733TBCEL-TECTA,TECTAc.2942-32C>T (n.2942-32C>T)
c.249-32C>T
c.3899-32C>T (n.3899-32C>T)
 gnomAD v4
11g.121137391C>ACA2567410785TBCEL-TECTA,TECTAc.2942-30C>A (n.2942-30C>A)
c.249-30C>A
c.3899-30C>A (n.3899-30C>A)
 gnomAD v4
11g.121137391C=CA2004733592TBCEL-TECTA,TECTAc.2942-30C= (n.2942-30C=)
c.249-30C=
c.3899-30C= (n.3899-30C=)
11g.121137391C>TCA229825203TBCEL-TECTA,TECTAc.2942-30C>T (n.2942-30C>T)
c.249-30C>T
c.3899-30C>T (n.3899-30C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121137392A=CA2004733593TBCEL-TECTA,TECTAc.2942-29A= (n.2942-29A=)
c.249-29A=
c.3899-29A= (n.3899-29A=)
11g.121137392A>GCA602580267TBCEL-TECTA,TECTAc.2942-29A>G (n.2942-29A>G)
c.249-29A>G
c.3899-29A>G (n.3899-29A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
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

Number of alleles fetched