Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.121137530T>ACA383018649TBCEL-TECTA,TECTAc.3051T>A (p.Cys1017Ter)
c.358T>A
c.4008T>A (p.Cys1336Ter)
11g.121137530T>CCA477382512TBCEL-TECTA,TECTAc.3051T>C (p.Cys1017=)
c.358T>C
c.4008T>C (p.Cys1336=)
11g.121137530T>GCA383018650TBCEL-TECTA,TECTAc.3051T>G (p.Cys1017Trp)
c.358T>G
c.4008T>G (p.Cys1336Trp)
11g.121137531C>ACA383018656TBCEL-TECTA,TECTAc.3052C>A (p.Gln1018Lys)
c.359C>A
c.4009C>A (p.Gln1337Lys)
11g.121137531C>GCA383018658TBCEL-TECTA,TECTAc.3052C>G (p.Gln1018Glu)
c.359C>G
c.4009C>G (p.Gln1337Glu)
11g.121137531C>TCA383018654TBCEL-TECTA,TECTAc.3052C>T (p.Gln1018Ter)
c.359C>T
c.4009C>T (p.Gln1337Ter)
11g.121137532A>CCA383018665TBCEL-TECTA,TECTAc.3053A>C (p.Gln1018Pro)
c.360A>C
c.4010A>C (p.Gln1337Pro)
11g.121137532A>GCA383018661TBCEL-TECTA,TECTAc.3053A>G (p.Gln1018Arg)
c.360A>G
c.4010A>G (p.Gln1337Arg)
11g.121137532A>TCA383018663TBCEL-TECTA,TECTAc.3053A>T (p.Gln1018Leu)
c.360A>T
c.4010A>T (p.Gln1337Leu)
11g.121137533G>ACA477382516TBCEL-TECTA,TECTAc.3054G>A (p.Gln1018=)
c.361G>A
c.4011G>A (p.Gln1337=)
 gnomAD v4
11g.121137533G>CCA383018668TBCEL-TECTA,TECTAc.3054G>C (p.Gln1018His)
c.361G>C
c.4011G>C (p.Gln1337His)
11g.121137533G>TCA383018670TBCEL-TECTA,TECTAc.3054G>T (p.Gln1018His)
c.361G>T
c.4011G>T (p.Gln1337His)
11g.121137534T>ACA383018673TBCEL-TECTA,TECTAc.3055T>A (p.Cys1019Ser)
c.362T>A
c.4012T>A (p.Cys1338Ser)
11g.121137534T>CCA383018675TBCEL-TECTA,TECTAc.3055T>C (p.Cys1019Arg)
c.362T>C
c.4012T>C (p.Cys1338Arg)
11g.121137534T>GCA383018677TBCEL-TECTA,TECTAc.3055T>G (p.Cys1019Gly)
c.362T>G
c.4012T>G (p.Cys1338Gly)
11g.121137535G>ACA383018681TBCEL-TECTA,TECTAc.3056G>A (p.Cys1019Tyr)
c.363G>A
c.4013G>A (p.Cys1338Tyr)
11g.121137535G>CCA383018683TBCEL-TECTA,TECTAc.3056G>C (p.Cys1019Ser)
c.363G>C
c.4013G>C (p.Cys1338Ser)
11g.121137535G>TCA383018685TBCEL-TECTA,TECTAc.3056G>T (p.Cys1019Phe)
c.363G>T
c.4013G>T (p.Cys1338Phe)
11g.121137536T>ACA383018689TBCEL-TECTA,TECTAc.3057T>A (p.Cys1019Ter)
c.364T>A
c.4014T>A (p.Cys1338Ter)
 dbSNP gnomAD v3 gnomAD v4
11g.121137536T>CCA477382525TBCEL-TECTA,TECTAc.3057T>C (p.Cys1019=)
c.364T>C
c.4014T>C (p.Cys1338=)
11g.121137536T>GCA383018690TBCEL-TECTA,TECTAc.3057T>G (p.Cys1019Trp)
c.364T>G
c.4014T>G (p.Cys1338Trp)
11g.121137536T=CA2004733726TBCEL-TECTA,TECTAc.3057T= (p.Cys1019=)
c.364T=
c.4014T= (p.Cys1338=)
11g.121137537G>ACA383018696TBCEL-TECTA,TECTAc.3058G>A (p.Asp1020Asn)
c.365G>A
c.4015G>A (p.Asp1339Asn)
11g.121137537G>CCA383018698TBCEL-TECTA,TECTAc.3058G>C (p.Asp1020His)
c.365G>C
c.4015G>C (p.Asp1339His)
11g.121137537G>TCA383018694TBCEL-TECTA,TECTAc.3058G>T (p.Asp1020Tyr)
c.365G>T
c.4015G>T (p.Asp1339Tyr)
11g.121137538A=CA2004733727TBCEL-TECTA,TECTAc.3059A= (p.Asp1020=)
c.366A=
c.4016A= (p.Asp1339=)
11g.121137538A>CCA383018701TBCEL-TECTA,TECTAc.3059A>C (p.Asp1020Ala)
c.366A>C
c.4016A>C (p.Asp1339Ala)
11g.121137538A>GCA383018704TBCEL-TECTA,TECTAc.3059A>G (p.Asp1020Gly)
c.366A>G
c.4016A>G (p.Asp1339Gly)
11g.121137538A>TCA6327147TBCEL-TECTA,TECTAc.3059A>T (p.Asp1020Val)
c.366A>T
c.4016A>T (p.Asp1339Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121137539T>ACA383018707TBCEL-TECTA,TECTAc.3060T>A (p.Asp1020Glu)
c.367T>A
c.4017T>A (p.Asp1339Glu)
11g.121137539T>CCA477382536TBCEL-TECTA,TECTAc.3060T>C (p.Asp1020=)
c.367T>C
c.4017T>C (p.Asp1339=)
11g.121137539T>GCA383018709TBCEL-TECTA,TECTAc.3060T>G (p.Asp1020Glu)
c.367T>G
c.4017T>G (p.Asp1339Glu)
11g.121137539_121137540insAACA2725114459TBCEL-TECTA,TECTAc.3060_3061insAA (p.Glu1021LysfsTer?)
c.367_368insAA
c.4017_4018insAA (p.Glu1340LysfsTer?)
 dbSNP
11g.121137540G>ACA383018715TBCEL-TECTA,TECTAc.3061G>A (p.Glu1021Lys)
c.368G>A
c.4018G>A (p.Glu1340Lys)
 dbSNP gnomAD v3 gnomAD v4
11g.121137540G>CCA383018712TBCEL-TECTA,TECTAc.3061G>C (p.Glu1021Gln)
c.368G>C
c.4018G>C (p.Glu1340Gln)
 gnomAD v4
11g.121137540G=CA2004733729TBCEL-TECTA,TECTAc.3061G= (p.Glu1021=)
c.368G=
c.4018G= (p.Glu1340=)
11g.121137540G>TCA383018713TBCEL-TECTA,TECTAc.3061G>T (p.Glu1021Ter)
c.368G>T
c.4018G>T (p.Glu1340Ter)
11g.121137541A=CA2004733731TBCEL-TECTA,TECTAc.3062A= (p.Glu1021=)
c.369A=
c.4019A= (p.Glu1340=)
11g.121137541A>CCA383018718TBCEL-TECTA,TECTAc.3062A>C (p.Glu1021Ala)
c.369A>C
c.4019A>C (p.Glu1340Ala)
11g.121137541A>GCA229825402TBCEL-TECTA,TECTAc.3062A>G (p.Glu1021Gly)
c.369A>G
c.4019A>G (p.Glu1340Gly)
 dbSNP gnomAD v4
11g.121137541A>TCA383018720TBCEL-TECTA,TECTAc.3062A>T (p.Glu1021Val)
c.369A>T
c.4019A>T (p.Glu1340Val)
11g.121137542G>ACA477382539TBCEL-TECTA,TECTAc.3063G>A (p.Glu1021=)
c.370G>A
c.4020G>A (p.Glu1340=)
 gnomAD v4
11g.121137542G>CCA383018724TBCEL-TECTA,TECTAc.3063G>C (p.Glu1021Asp)
c.370G>C
c.4020G>C (p.Glu1340Asp)
11g.121137542G>TCA383018726TBCEL-TECTA,TECTAc.3063G>T (p.Glu1021Asp)
c.370G>T
c.4020G>T (p.Glu1340Asp)
11g.121137543G>ACA6327148TBCEL-TECTA,TECTAc.3064G>A (p.Gly1022Ser)
c.371G>A
c.4021G>A (p.Gly1341Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121137543G>CCA383018730TBCEL-TECTA,TECTAc.3064G>C (p.Gly1022Arg)
c.371G>C
c.4021G>C (p.Gly1341Arg)
11g.121137543G=CA2004733733TBCEL-TECTA,TECTAc.3064G= (p.Gly1022=)
c.371G=
c.4021G= (p.Gly1341=)
11g.121137543G>TCA383018728TBCEL-TECTA,TECTAc.3064G>T (p.Gly1022Cys)
c.371G>T
c.4021G>T (p.Gly1341Cys)
 COSMIC
11g.121137544G>ACA6327149TBCEL-TECTA,TECTAc.3065G>A (p.Gly1022Asp)
c.372G>A
c.4022G>A (p.Gly1341Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121137544G>CCA383018735TBCEL-TECTA,TECTAc.3065G>C (p.Gly1022Ala)
c.372G>C
c.4022G>C (p.Gly1341Ala)
 gnomAD v4
11g.121137544G=CA2004733734TBCEL-TECTA,TECTAc.3065G= (p.Gly1022=)
c.372G=
c.4022G= (p.Gly1341=)
11g.121137544G>TCA383018737TBCEL-TECTA,TECTAc.3065G>T (p.Gly1022Val)
c.372G>T
c.4022G>T (p.Gly1341Val)
 dbSNP gnomAD v4
11g.121137545C>ACA477382545TBCEL-TECTA,TECTAc.3066C>A (p.Gly1022=)
c.373C>A
c.4023C>A (p.Gly1341=)
11g.121137545C=CA2004733736TBCEL-TECTA,TECTAc.3066C= (p.Gly1022=)
c.373C=
c.4023C= (p.Gly1341=)
11g.121137545C>GCA6327150TBCEL-TECTA,TECTAc.3066C>G (p.Gly1022=)
c.373C>G
c.4023C>G (p.Gly1341=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121137545C>TCA477382546TBCEL-TECTA,TECTAc.3066C>T (p.Gly1022=)
c.373C>T
c.4023C>T (p.Gly1341=)
 gnomAD v4
11g.121137546T>ACA383018742TBCEL-TECTA,TECTAc.3067T>A (p.Tyr1023Asn)
c.374T>A
c.4024T>A (p.Tyr1342Asn)
11g.121137546T>CCA383018744TBCEL-TECTA,TECTAc.3067T>C (p.Tyr1023His)
c.374T>C
c.4024T>C (p.Tyr1342His)
11g.121137546T>GCA383018746TBCEL-TECTA,TECTAc.3067T>G (p.Tyr1023Asp)
c.374T>G
c.4024T>G (p.Tyr1342Asp)
11g.121137547A=CA2004733737TBCEL-TECTA,TECTAc.3068A= (p.Tyr1023=)
c.375A=
c.4025A= (p.Tyr1342=)
11g.121137547A>CCA383018749TBCEL-TECTA,TECTAc.3068A>C (p.Tyr1023Ser)
c.375A>C
c.4025A>C (p.Tyr1342Ser)
11g.121137547A>GCA383018751TBCEL-TECTA,TECTAc.3068A>G (p.Tyr1023Cys)
c.375A>G
c.4025A>G (p.Tyr1342Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121137547A>TCA383018753TBCEL-TECTA,TECTAc.3068A>T (p.Tyr1023Phe)
c.375A>T
c.4025A>T (p.Tyr1342Phe)
11g.121137548T>ACA383018755TBCEL-TECTA,TECTAc.3069T>A (p.Tyr1023Ter)
c.376T>A
c.4026T>A (p.Tyr1342Ter)
11g.121137548T>CCA477382548TBCEL-TECTA,TECTAc.3069T>C (p.Tyr1023=)
c.376T>C
c.4026T>C (p.Tyr1342=)
11g.121137548T>GCA383018757TBCEL-TECTA,TECTAc.3069T>G (p.Tyr1023Ter)
c.376T>G
c.4026T>G (p.Tyr1342Ter)
11g.121137549G>ACA383018762TBCEL-TECTA,TECTAc.3070G>A (p.Ala1024Thr)
c.377G>A
c.4027G>A (p.Ala1343Thr)
11g.121137549G>CCA383018764TBCEL-TECTA,TECTAc.3070G>C (p.Ala1024Pro)
c.377G>C
c.4027G>C (p.Ala1343Pro)
11g.121137549G>TCA383018759TBCEL-TECTA,TECTAc.3070G>T (p.Ala1024Ser)
c.377G>T
c.4027G>T (p.Ala1343Ser)
11g.121137550C>ACA383018767TBCEL-TECTA,TECTAc.3071C>A (p.Ala1024Asp)
c.378C>A
c.4028C>A (p.Ala1343Asp)
11g.121137550C=CA2004733739TBCEL-TECTA,TECTAc.3071C= (p.Ala1024=)
c.378C=
c.4028C= (p.Ala1343=)
11g.121137550C>GCA383018770TBCEL-TECTA,TECTAc.3071C>G (p.Ala1024Gly)
c.378C>G
c.4028C>G (p.Ala1343Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121137550C>TCA383018772TBCEL-TECTA,TECTAc.3071C>T (p.Ala1024Val)
c.378C>T
c.4028C>T (p.Ala1343Val)
 dbSNP
11g.121137551T>ACA477382552TBCEL-TECTA,TECTAc.3072T>A (p.Ala1024=)
c.379T>A
c.4029T>A (p.Ala1343=)
 dbSNP gnomAD v3 gnomAD v4
11g.121137551T>CCA477382554TBCEL-TECTA,TECTAc.3072T>C (p.Ala1024=)
c.379T>C
c.4029T>C (p.Ala1343=)
11g.121137551T>GCA477382557TBCEL-TECTA,TECTAc.3072T>G (p.Ala1024=)
c.379T>G
c.4029T>G (p.Ala1343=)
11g.121137551T=CA2004733741TBCEL-TECTA,TECTAc.3072T= (p.Ala1024=)
c.379T=
c.4029T= (p.Ala1343=)
11g.121137552C>ACA383018775TBCEL-TECTA,TECTAc.3073C>A (p.Leu1025Ile)
c.380C>A
c.4030C>A (p.Leu1344Ile)
11g.121137552C=CA2004733743TBCEL-TECTA,TECTAc.3073C= (p.Leu1025=)
c.380C=
c.4030C= (p.Leu1344=)
11g.121137552C>GCA383018776TBCEL-TECTA,TECTAc.3073C>G (p.Leu1025Val)
c.380C>G
c.4030C>G (p.Leu1344Val)
 gnomAD v4
11g.121137552C>TCA6327151TBCEL-TECTA,TECTAc.3073C>T (p.Leu1025=)
c.380C>T
c.4030C>T (p.Leu1344=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121137553T>ACA383018781TBCEL-TECTA,TECTAc.3074T>A (p.Leu1025Gln)
c.381T>A
c.4031T>A (p.Leu1344Gln)
11g.121137553T>CCA383018785TBCEL-TECTA,TECTAc.3074T>C (p.Leu1025Pro)
c.381T>C
c.4031T>C (p.Leu1344Pro)
 dbSNP gnomAD v4
11g.121137553T>GCA383018783TBCEL-TECTA,TECTAc.3074T>G (p.Leu1025Arg)
c.381T>G
c.4031T>G (p.Leu1344Arg)
11g.121137553T=CA2004733744TBCEL-TECTA,TECTAc.3074T= (p.Leu1025=)
c.381T=
c.4031T= (p.Leu1344=)
11g.121137554A=CA2004733746TBCEL-TECTA,TECTAc.3075A= (p.Leu1025=)
c.382A=
c.4032A= (p.Leu1344=)
11g.121137554A>CCA477382561TBCEL-TECTA,TECTAc.3075A>C (p.Leu1025=)
c.382A>C
c.4032A>C (p.Leu1344=)
 gnomAD v4
11g.121137554A>GCA229825408TBCEL-TECTA,TECTAc.3075A>G (p.Leu1025=)
c.382A>G
c.4032A>G (p.Leu1344=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121137554A>TCA477382564TBCEL-TECTA,TECTAc.3075A>T (p.Leu1025=)
c.382A>T
c.4032A>T (p.Leu1344=)
11g.121137555C>ACA383018788TBCEL-TECTA,TECTAc.3076C>A (p.Leu1026Met)
c.383C>A
c.4033C>A (p.Leu1345Met)
 dbSNP gnomAD v2
11g.121137555C=CA2004733748TBCEL-TECTA,TECTAc.3076C= (p.Leu1026=)
c.383C=
c.4033C= (p.Leu1345=)
11g.121137555C>GCA383018790TBCEL-TECTA,TECTAc.3076C>G (p.Leu1026Val)
c.383C>G
c.4033C>G (p.Leu1345Val)
11g.121137555C>TCA477382566TBCEL-TECTA,TECTAc.3076C>T (p.Leu1026=)
c.383C>T
c.4033C>T (p.Leu1345=)
11g.121137556T>ACA383018792TBCEL-TECTA,TECTAc.3077T>A (p.Leu1026Gln)
c.384T>A
c.4034T>A (p.Leu1345Gln)
11g.121137556T>CCA383018795TBCEL-TECTA,TECTAc.3077T>C (p.Leu1026Pro)
c.384T>C
c.4034T>C (p.Leu1345Pro)
 gnomAD v4
11g.121137556T>GCA383018797TBCEL-TECTA,TECTAc.3077T>G (p.Leu1026Arg)
c.384T>G
c.4034T>G (p.Leu1345Arg)
 dbSNP
11g.121137556T=CA2004733749TBCEL-TECTA,TECTAc.3077T= (p.Leu1026=)
c.384T=
c.4034T= (p.Leu1345=)
11g.121137557G>ACA477382570TBCEL-TECTA,TECTAc.3078G>A (p.Leu1026=)
c.385G>A
c.4035G>A (p.Leu1345=)
 gnomAD v4
11g.121137557G>CCA477382568TBCEL-TECTA,TECTAc.3078G>C (p.Leu1026=)
c.385G>C
c.4035G>C (p.Leu1345=)
11g.121137557G>TCA477382567TBCEL-TECTA,TECTAc.3078G>T (p.Leu1026=)
c.385G>T
c.4035G>T (p.Leu1345=)
11g.121137558G>ACA383018802TBCEL-TECTA,TECTAc.3079G>A (p.Gly1027Ser)
c.386G>A
c.4036G>A (p.Gly1346Ser)
11g.121137558G>CCA383018805TBCEL-TECTA,TECTAc.3079G>C (p.Gly1027Arg)
c.386G>C
c.4036G>C (p.Gly1346Arg)
11g.121137558G>TCA383018800TBCEL-TECTA,TECTAc.3079G>T (p.Gly1027Cys)
c.386G>T
c.4036G>T (p.Gly1346Cys)
11g.121137559G>ACA383018807TBCEL-TECTA,TECTAc.3080G>A (p.Gly1027Asp)
c.387G>A
c.4037G>A (p.Gly1346Asp)
 COSMIC
11g.121137559G>CCA383018812TBCEL-TECTA,TECTAc.3080G>C (p.Gly1027Ala)
c.387G>C
c.4037G>C (p.Gly1346Ala)
11g.121137559G>TCA383018810TBCEL-TECTA,TECTAc.3080G>T (p.Gly1027Val)
c.387G>T
c.4037G>T (p.Gly1346Val)
11g.121137560C>ACA477382573TBCEL-TECTA,TECTAc.3081C>A (p.Gly1027=)
c.388C>A
c.4038C>A (p.Gly1346=)
11g.121137560C>GCA477382575TBCEL-TECTA,TECTAc.3081C>G (p.Gly1027=)
c.388C>G
c.4038C>G (p.Gly1346=)
11g.121137560C>TCA477382574TBCEL-TECTA,TECTAc.3081C>T (p.Gly1027=)
c.388C>T
c.4038C>T (p.Gly1346=)
11g.121137561A>CCA383018815TBCEL-TECTA,TECTAc.3082A>C (p.Ser1028Arg)
c.389A>C
c.4039A>C (p.Ser1347Arg)
11g.121137561A>GCA383018820TBCEL-TECTA,TECTAc.3082A>G (p.Ser1028Gly)
c.389A>G
c.4039A>G (p.Ser1347Gly)
11g.121137561A>TCA383018817TBCEL-TECTA,TECTAc.3082A>T (p.Ser1028Cys)
c.389A>T
c.4039A>T (p.Ser1347Cys)
 COSMIC
11g.121137562G>ACA229825413TBCEL-TECTA,TECTAc.3083G>A (p.Ser1028Asn)
c.390G>A
c.4040G>A (p.Ser1347Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121137562G>CCA383018823TBCEL-TECTA,TECTAc.3083G>C (p.Ser1028Thr)
c.390G>C
c.4040G>C (p.Ser1347Thr)
11g.121137562G=CA2004733750TBCEL-TECTA,TECTAc.3083G= (p.Ser1028=)
c.390G=
c.4040G= (p.Ser1347=)
11g.121137562G>TCA383018826TBCEL-TECTA,TECTAc.3083G>T (p.Ser1028Ile)
c.390G>T
c.4040G>T (p.Ser1347Ile)
 gnomAD v4
11g.121137563C>ACA383018828TBCEL-TECTA,TECTAc.3084C>A (p.Ser1028Arg)
c.391C>A
c.4041C>A (p.Ser1347Arg)
11g.121137563C>GCA383018830TBCEL-TECTA,TECTAc.3084C>G (p.Ser1028Arg)
c.391C>G
c.4041C>G (p.Ser1347Arg)
11g.121137563C>TCA477382580TBCEL-TECTA,TECTAc.3084C>T (p.Ser1028=)
c.391C>T
c.4041C>T (p.Ser1347=)
 gnomAD v4
11g.121137564C>ACA383018833TBCEL-TECTA,TECTAc.3085C>A (p.Gln1029Lys)
c.392C>A
c.4042C>A (p.Gln1348Lys)
11g.121137564C>GCA383018835TBCEL-TECTA,TECTAc.3085C>G (p.Gln1029Glu)
c.392C>G
c.4042C>G (p.Gln1348Glu)
11g.121137564C>TCA383018837TBCEL-TECTA,TECTAc.3085C>T (p.Gln1029Ter)
c.392C>T
c.4042C>T (p.Gln1348Ter)
11g.121137565A=CA2004733752TBCEL-TECTA,TECTAc.3086A= (p.Gln1029=)
c.393A=
c.4043A= (p.Gln1348=)
11g.121137565A>CCA383018840TBCEL-TECTA,TECTAc.3086A>C (p.Gln1029Pro)
c.393A>C
c.4043A>C (p.Gln1348Pro)
11g.121137565A>GCA383018842TBCEL-TECTA,TECTAc.3086A>G (p.Gln1029Arg)
c.393A>G
c.4043A>G (p.Gln1348Arg)
 dbSNP
11g.121137565A>TCA383018844TBCEL-TECTA,TECTAc.3086A>T (p.Gln1029Leu)
c.393A>T
c.4043A>T (p.Gln1348Leu)
11g.121137566G>ACA477382584TBCEL-TECTA,TECTAc.3087G>A (p.Gln1029=)
c.394G>A
c.4044G>A (p.Gln1348=)
11g.121137566G>CCA383018849TBCEL-TECTA,TECTAc.3087G>C (p.Gln1029His)
c.394G>C
c.4044G>C (p.Gln1348His)
11g.121137566G>TCA383018847TBCEL-TECTA,TECTAc.3087G>T (p.Gln1029His)
c.394G>T
c.4044G>T (p.Gln1348His)
11g.121137567T>ACA383018852TBCEL-TECTA,TECTAc.3088T>A (p.Cys1030Ser)
c.395T>A
c.4045T>A (p.Cys1349Ser)
11g.121137567T>CCA383018854TBCEL-TECTA,TECTAc.3088T>C (p.Cys1030Arg)
c.395T>C
c.4045T>C (p.Cys1349Arg)
11g.121137567T>GCA383018856TBCEL-TECTA,TECTAc.3088T>G (p.Cys1030Gly)
c.395T>G
c.4045T>G (p.Cys1349Gly)
11g.121137568G>ACA383018860TBCEL-TECTA,TECTAc.3089G>A (p.Cys1030Tyr)
c.396G>A
c.4046G>A (p.Cys1349Tyr)
11g.121137568G>CCA383018862TBCEL-TECTA,TECTAc.3089G>C (p.Cys1030Ser)
c.396G>C
c.4046G>C (p.Cys1349Ser)
 dbSNP gnomAD v3 gnomAD v4
11g.121137568G=CA2004733753TBCEL-TECTA,TECTAc.3089G= (p.Cys1030=)
c.396G=
c.4046G= (p.Cys1349=)
11g.121137568G>TCA383018864TBCEL-TECTA,TECTAc.3089G>T (p.Cys1030Phe)
c.396G>T
c.4046G>T (p.Cys1349Phe)
11g.121137569T>ACA383018866TBCEL-TECTA,TECTAc.3090T>A (p.Cys1030Ter)
c.397T>A
c.4047T>A (p.Cys1349Ter)
11g.121137569T>CCA477382586TBCEL-TECTA,TECTAc.3090T>C (p.Cys1030=)
c.397T>C
c.4047T>C (p.Cys1349=)
11g.121137569T>GCA383018869TBCEL-TECTA,TECTAc.3090T>G (p.Cys1030Trp)
c.397T>G
c.4047T>G (p.Cys1349Trp)
11g.121137570G>ACA383018872TBCEL-TECTA,TECTAc.3091G>A (p.Val1031Ile)
c.398G>A
c.4048G>A (p.Val1350Ile)
11g.121137570G>CCA383018874TBCEL-TECTA,TECTAc.3091G>C (p.Val1031Leu)
c.398G>C
c.4048G>C (p.Val1350Leu)
11g.121137570G>TCA383018875TBCEL-TECTA,TECTAc.3091G>T (p.Val1031Phe)
c.398G>T
c.4048G>T (p.Val1350Phe)
11g.121137571T>ACA383018881TBCEL-TECTA,TECTAc.3092T>A (p.Val1031Asp)
c.399T>A
c.4049T>A (p.Val1350Asp)
11g.121137571T>CCA383018882TBCEL-TECTA,TECTAc.3092T>C (p.Val1031Ala)
c.399T>C
c.4049T>C (p.Val1350Ala)
11g.121137571T>GCA383018879TBCEL-TECTA,TECTAc.3092T>G (p.Val1031Gly)
c.399T>G
c.4049T>G (p.Val1350Gly)
11g.121137572C>ACA477382590TBCEL-TECTA,TECTAc.3093C>A (p.Val1031=)
c.400C>A
c.4050C>A (p.Val1350=)
11g.121137572C>GCA477382592TBCEL-TECTA,TECTAc.3093C>G (p.Val1031=)
c.400C>G
c.4050C>G (p.Val1350=)
11g.121137572C>TCA477382591TBCEL-TECTA,TECTAc.3093C>T (p.Val1031=)
c.400C>T
c.4050C>T (p.Val1350=)
11g.121137573A=CA2004733755TBCEL-TECTA,TECTAc.3094A= (p.Thr1032=)
c.401A=
c.4051A= (p.Thr1351=)
11g.121137573A>CCA383018885TBCEL-TECTA,TECTAc.3094A>C (p.Thr1032Pro)
c.401A>C
c.4051A>C (p.Thr1351Pro)
11g.121137573A>GCA383018887TBCEL-TECTA,TECTAc.3094A>G (p.Thr1032Ala)
c.401A>G
c.4051A>G (p.Thr1351Ala)
 dbSNP
11g.121137573A>TCA383018889TBCEL-TECTA,TECTAc.3094A>T (p.Thr1032Ser)
c.401A>T
c.4051A>T (p.Thr1351Ser)
11g.121137574C>ACA383018892TBCEL-TECTA,TECTAc.3095C>A (p.Thr1032Lys)
c.402C>A
c.4052C>A (p.Thr1351Lys)
11g.121137574C=CA2004733757TBCEL-TECTA,TECTAc.3095C= (p.Thr1032=)
c.402C=
c.4052C= (p.Thr1351=)
11g.121137574C>GCA383018895TBCEL-TECTA,TECTAc.3095C>G (p.Thr1032Arg)
c.402C>G
c.4052C>G (p.Thr1351Arg)
11g.121137574C>TCA229825419TBCEL-TECTA,TECTAc.3095C>T (p.Thr1032Met)
c.402C>T
c.4052C>T (p.Thr1351Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.121137575G>ACA6327152TBCEL-TECTA,TECTAc.3096G>A (p.Thr1032=)
c.403G>A
c.4053G>A (p.Thr1351=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.121137575G>CCA477382593TBCEL-TECTA,TECTAc.3096G>C (p.Thr1032=)
c.403G>C
c.4053G>C (p.Thr1351=)
11g.121137575G=CA2004733759TBCEL-TECTA,TECTAc.3096G= (p.Thr1032=)
c.403G=
c.4053G= (p.Thr1351=)
11g.121137575G>TCA229825424TBCEL-TECTA,TECTAc.3096G>T (p.Thr1032=)
c.403G>T
c.4053G>T (p.Thr1351=)
 dbSNP
11g.121137576C>ACA477382594TBCEL-TECTA,TECTAc.3097C>A (p.Arg1033=)
c.404C>A
c.4054C>A (p.Arg1352=)
11g.121137576C=CA2004733762TBCEL-TECTA,TECTAc.3097C= (p.Arg1033=)
c.404C=
c.4054C= (p.Arg1352=)
11g.121137576C>GCA383018901TBCEL-TECTA,TECTAc.3097C>G (p.Arg1033Gly)
c.404C>G
c.4054C>G (p.Arg1352Gly)
11g.121137576C>TCA182517TBCEL-TECTA,TECTAc.3097C>T (p.Arg1033Trp)
c.404C>T
c.4054C>T (p.Arg1352Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121137577G>ACA6327153TBCEL-TECTA,TECTAc.3098G>A (p.Arg1033Gln)
c.405G>A
c.4055G>A (p.Arg1352Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121137577G>CCA383018904TBCEL-TECTA,TECTAc.3098G>C (p.Arg1033Pro)
c.405G>C
c.4055G>C (p.Arg1352Pro)
11g.121137577G=CA2004733765TBCEL-TECTA,TECTAc.3098G= (p.Arg1033=)
c.405G=
c.4055G= (p.Arg1352=)
11g.121137577G>TCA383018906TBCEL-TECTA,TECTAc.3098G>T (p.Arg1033Leu)
c.405G>T
c.4055G>T (p.Arg1352Leu)
11g.121137578G>ACA477382598TBCEL-TECTA,TECTAc.3099G>A (p.Arg1033=)
c.406G>A
c.4056G>A (p.Arg1352=)
 dbSNP gnomAD v4
11g.121137578G>CCA477382599TBCEL-TECTA,TECTAc.3099G>C (p.Arg1033=)
c.406G>C
c.4056G>C (p.Arg1352=)
11g.121137578G=CA2004733767TBCEL-TECTA,TECTAc.3099G= (p.Arg1033=)
c.406G=
c.4056G= (p.Arg1352=)
11g.121137578G>TCA477382600TBCEL-TECTA,TECTAc.3099G>T (p.Arg1033=)
c.406G>T
c.4056G>T (p.Arg1352=)
11g.121137579A=CA2004733768TBCEL-TECTA,TECTAc.3100A= (p.Ser1034=)
c.407A=
c.4057A= (p.Ser1353=)
11g.121137579A>CCA383018913TBCEL-TECTA,TECTAc.3100A>C (p.Ser1034Arg)
c.407A>C
c.4057A>C (p.Ser1353Arg)
 gnomAD v4
11g.121137579A>GCA383018911TBCEL-TECTA,TECTAc.3100A>G (p.Ser1034Gly)
c.407A>G
c.4057A>G (p.Ser1353Gly)
11g.121137579A>TCA229825452TBCEL-TECTA,TECTAc.3100A>T (p.Ser1034Cys)
c.407A>T
c.4057A>T (p.Ser1353Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121137580G>ACA383018915TBCEL-TECTA,TECTAc.3101G>A (p.Ser1034Asn)
c.408G>A
c.4058G>A (p.Ser1353Asn)
 dbSNP gnomAD v2
11g.121137580G>CCA383018917TBCEL-TECTA,TECTAc.3101G>C (p.Ser1034Thr)
c.408G>C
c.4058G>C (p.Ser1353Thr)
11g.121137580G=CA2004733770TBCEL-TECTA,TECTAc.3101G= (p.Ser1034=)
c.408G=
c.4058G= (p.Ser1353=)
11g.121137580G>TCA383018920TBCEL-TECTA,TECTAc.3101G>T (p.Ser1034Ile)
c.408G>T
c.4058G>T (p.Ser1353Ile)
 dbSNP
11g.121137581T>ACA383018923TBCEL-TECTA,TECTAc.3102T>A (p.Ser1034Arg)
c.409T>A
c.4059T>A (p.Ser1353Arg)
11g.121137581T>CCA477382602TBCEL-TECTA,TECTAc.3102T>C (p.Ser1034=)
c.409T>C
c.4059T>C (p.Ser1353=)
11g.121137581T>GCA383018924TBCEL-TECTA,TECTAc.3102T>G (p.Ser1034Arg)
c.409T>G
c.4059T>G (p.Ser1353Arg)
11g.121137582G>ACA6327154TBCEL-TECTA,TECTAc.3103G>A (p.Glu1035Lys)
c.410G>A
c.4060G>A (p.Glu1354Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121137582G>CCA383018927TBCEL-TECTA,TECTAc.3103G>C (p.Glu1035Gln)
c.410G>C
c.4060G>C (p.Glu1354Gln)
11g.121137582G=CA2004733772TBCEL-TECTA,TECTAc.3103G= (p.Glu1035=)
c.410G=
c.4060G= (p.Glu1354=)
11g.121137582G>TCA383018929TBCEL-TECTA,TECTAc.3103G>T (p.Glu1035Ter)
c.410G>T
c.4060G>T (p.Glu1354Ter)
11g.121137583A=CA2004733775TBCEL-TECTA,TECTAc.3104A= (p.Glu1035=)
c.411A=
c.4061A= (p.Glu1354=)
11g.121137583A>CCA383018933TBCEL-TECTA,TECTAc.3104A>C (p.Glu1035Ala)
c.411A>C
c.4061A>C (p.Glu1354Ala)
11g.121137583A>GCA383018935TBCEL-TECTA,TECTAc.3104A>G (p.Glu1035Gly)
c.411A>G
c.4061A>G (p.Glu1354Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.121137583A>TCA383018937TBCEL-TECTA,TECTAc.3104A>T (p.Glu1035Val)
c.411A>T
c.4061A>T (p.Glu1354Val)
11g.121137584G>ACA477382604TBCEL-TECTA,TECTAc.3105G>A (p.Glu1035=)
c.412G>A
c.4062G>A (p.Glu1354=)
 dbSNP gnomAD v4
11g.121137584G>CCA383018940TBCEL-TECTA,TECTAc.3105G>C (p.Glu1035Asp)
c.412G>C
c.4062G>C (p.Glu1354Asp)
11g.121137584G=CA2004733777TBCEL-TECTA,TECTAc.3105G= (p.Glu1035=)
c.412G=
c.4062G= (p.Glu1354=)
11g.121137584G>TCA383018942TBCEL-TECTA,TECTAc.3105G>T (p.Glu1035Asp)
c.412G>T
c.4062G>T (p.Glu1354Asp)
11g.121137585T>ACA383018948TBCEL-TECTA,TECTAc.3106T>A (p.Cys1036Ser)
c.413T>A
c.4063T>A (p.Cys1355Ser)
11g.121137585T>CCA383018946TBCEL-TECTA,TECTAc.3106T>C (p.Cys1036Arg)
c.413T>C
c.4063T>C (p.Cys1355Arg)
11g.121137585T>GCA383018945TBCEL-TECTA,TECTAc.3106T>G (p.Cys1036Gly)
c.413T>G
c.4063T>G (p.Cys1355Gly)
11g.121137586G>ACA6327156TBCEL-TECTA,TECTAc.3107G>A (p.Cys1036Tyr)
c.414G>A
c.4064G>A (p.Cys1355Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121137586G>CCA383018951TBCEL-TECTA,TECTAc.3107G>C (p.Cys1036Ser)
c.414G>C
c.4064G>C (p.Cys1355Ser)
11g.121137586G=CA2004733780TBCEL-TECTA,TECTAc.3107G= (p.Cys1036=)
c.414G=
c.4064G= (p.Cys1355=)
11g.121137586G>TCA6327155TBCEL-TECTA,TECTAc.3107G>T (p.Cys1036Phe)
c.414G>T
c.4064G>T (p.Cys1355Phe)
 dbSNP ExAC
11g.121137587T>ACA383018957TBCEL-TECTA,TECTAc.3108T>A (p.Cys1036Ter)
c.415T>A
c.4065T>A (p.Cys1355Ter)
11g.121137587T>CCA477382605TBCEL-TECTA,TECTAc.3108T>C (p.Cys1036=)
c.415T>C
c.4065T>C (p.Cys1355=)
11g.121137587T>GCA383018959TBCEL-TECTA,TECTAc.3108T>G (p.Cys1036Trp)
c.415T>G
c.4065T>G (p.Cys1355Trp)
11g.121137588G>ACA383018962TBCEL-TECTA,TECTAc.3109G>A (p.Gly1037Ser)
c.416G>A
c.4066G>A (p.Gly1356Ser)
11g.121137588G>CCA383018965TBCEL-TECTA,TECTAc.3109G>C (p.Gly1037Arg)
c.416G>C
c.4066G>C (p.Gly1356Arg)
11g.121137588G>TCA383018967TBCEL-TECTA,TECTAc.3109G>T (p.Gly1037Cys)
c.416G>T
c.4066G>T (p.Gly1356Cys)
 gnomAD v4
11g.121137589G>ACA383018968TBCEL-TECTA,TECTAc.3110G>A (p.Gly1037Asp)
c.417G>A
c.4067G>A (p.Gly1356Asp)
11g.121137589G>CCA383018969TBCEL-TECTA,TECTAc.3110G>C (p.Gly1037Ala)
c.417G>C
c.4067G>C (p.Gly1356Ala)
11g.121137589G>TCA383018970TBCEL-TECTA,TECTAc.3110G>T (p.Gly1037Val)
c.417G>T
c.4067G>T (p.Gly1356Val)
 gnomAD v4
11g.121137590C>ACA477382608TBCEL-TECTA,TECTAc.3111C>A (p.Gly1037=)
c.418C>A
c.4068C>A (p.Gly1356=)
11g.121137590C>GCA477382609TBCEL-TECTA,TECTAc.3111C>G (p.Gly1037=)
c.418C>G
c.4068C>G (p.Gly1356=)
 gnomAD v4
11g.121137590C>TCA477382610TBCEL-TECTA,TECTAc.3111C>T (p.Gly1037=)
c.418C>T
c.4068C>T (p.Gly1356=)
11g.121137591T>ACA383018971TBCEL-TECTA,TECTAc.3112T>A (p.Cys1038Ser)
c.419T>A
c.4069T>A (p.Cys1357Ser)
11g.121137591T>CCA383018972TBCEL-TECTA,TECTAc.3112T>C (p.Cys1038Arg)
c.419T>C
c.4069T>C (p.Cys1357Arg)
11g.121137591T>GCA383018973TBCEL-TECTA,TECTAc.3112T>G (p.Cys1038Gly)
c.419T>G
c.4069T>G (p.Cys1357Gly)
11g.121137592G>ACA383018976TBCEL-TECTA,TECTAc.3113G>A (p.Cys1038Tyr)
c.420G>A
c.4070G>A (p.Cys1357Tyr)
 dbSNP gnomAD v3 gnomAD v4
11g.121137592G>CCA383018975TBCEL-TECTA,TECTAc.3113G>C (p.Cys1038Ser)
c.420G>C
c.4070G>C (p.Cys1357Ser)
11g.121137592G=CA2004733783TBCEL-TECTA,TECTAc.3113G= (p.Cys1038=)
c.420G=
c.4070G= (p.Cys1357=)
11g.121137592G>TCA383018974TBCEL-TECTA,TECTAc.3113G>T (p.Cys1038Phe)
c.420G>T
c.4070G>T (p.Cys1357Phe)
11g.121137593C>ACA383018977TBCEL-TECTA,TECTAc.3114C>A (p.Cys1038Ter)
c.421C>A
c.4071C>A (p.Cys1357Ter)
11g.121137593C=CA2004733786TBCEL-TECTA,TECTAc.3114C= (p.Cys1038=)
c.421C=
c.4071C= (p.Cys1357=)
11g.121137593C>GCA383018978TBCEL-TECTA,TECTAc.3114C>G (p.Cys1038Trp)
c.421C>G
c.4071C>G (p.Cys1357Trp)
11g.121137593C>TCA6327157TBCEL-TECTA,TECTAc.3114C>T (p.Cys1038=)
c.421C>T
c.4071C>T (p.Cys1357=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121137594A>CCA383018979TBCEL-TECTA,TECTAc.3115A>C (p.Asn1039His)
c.422A>C
c.4072A>C (p.Asn1358His)
11g.121137594A>GCA383018980TBCEL-TECTA,TECTAc.3115A>G (p.Asn1039Asp)
c.422A>G
c.4072A>G (p.Asn1358Asp)
11g.121137594A>TCA383018981TBCEL-TECTA,TECTAc.3115A>T (p.Asn1039Tyr)
c.422A>T
c.4072A>T (p.Asn1358Tyr)
11g.121137595A=CA2004733788TBCEL-TECTA,TECTAc.3116A= (p.Asn1039=)
c.423A=
c.4073A= (p.Asn1358=)
11g.121137595A>CCA383018982TBCEL-TECTA,TECTAc.3116A>C (p.Asn1039Thr)
c.423A>C
c.4073A>C (p.Asn1358Thr)
11g.121137595A>GCA229825508TBCEL-TECTA,TECTAc.3116A>G (p.Asn1039Ser)
c.423A>G
c.4073A>G (p.Asn1358Ser)
 dbSNP
11g.121137595A>TCA383018983TBCEL-TECTA,TECTAc.3116A>T (p.Asn1039Ile)
c.423A>T
c.4073A>T (p.Asn1358Ile)
 gnomAD v4
11g.121137596C>ACA383018984TBCEL-TECTA,TECTAc.3117C>A (p.Asn1039Lys)
c.424C>A
c.4074C>A (p.Asn1358Lys)
11g.121137596C>GCA383018985TBCEL-TECTA,TECTAc.3117C>G (p.Asn1039Lys)
c.424C>G
c.4074C>G (p.Asn1358Lys)
 gnomAD v4
11g.121137596C>TCA477382622TBCEL-TECTA,TECTAc.3117C>T (p.Asn1039=)
c.424C>T
c.4074C>T (p.Asn1358=)
11g.121137597T>ACA383018986TBCEL-TECTA,TECTAc.3118T>A (p.Phe1040Ile)
c.425T>A
c.4075T>A (p.Phe1359Ile)
11g.121137597T>CCA383018987TBCEL-TECTA,TECTAc.3118T>C (p.Phe1040Leu)
c.425T>C
c.4075T>C (p.Phe1359Leu)
11g.121137597T>GCA383018988TBCEL-TECTA,TECTAc.3118T>G (p.Phe1040Val)
c.425T>G
c.4075T>G (p.Phe1359Val)
11g.121137598T>ACA383018990TBCEL-TECTA,TECTAc.3119T>A (p.Phe1040Tyr)
c.426T>A
c.4076T>A (p.Phe1359Tyr)
11g.121137598T>CCA383018991TBCEL-TECTA,TECTAc.3119T>C (p.Phe1040Ser)
c.426T>C
c.4076T>C (p.Phe1359Ser)
11g.121137598T>GCA383018989TBCEL-TECTA,TECTAc.3119T>G (p.Phe1040Cys)
c.426T>G
c.4076T>G (p.Phe1359Cys)
11g.121137599T>ACA383018992TBCEL-TECTA,TECTAc.3120T>A (p.Phe1040Leu)
c.427T>A
c.4077T>A (p.Phe1359Leu)
11g.121137599T>CCA477382626TBCEL-TECTA,TECTAc.3120T>C (p.Phe1040=)
c.427T>C
c.4077T>C (p.Phe1359=)
11g.121137599T>GCA383018993TBCEL-TECTA,TECTAc.3120T>G (p.Phe1040Leu)
c.427T>G
c.4077T>G (p.Phe1359Leu)
 dbSNP
11g.121137599T=CA2004733790TBCEL-TECTA,TECTAc.3120T= (p.Phe1040=)
c.427T=
c.4077T= (p.Phe1359=)
11g.121137600G>ACA383018994TBCEL-TECTA,TECTAc.3121G>A (p.Glu1041Lys)
c.428G>A
c.4078G>A (p.Glu1360Lys)
11g.121137600G>CCA383018995TBCEL-TECTA,TECTAc.3121G>C (p.Glu1041Gln)
c.428G>C
c.4078G>C (p.Glu1360Gln)
 gnomAD v4
11g.121137600G=CA2004733791TBCEL-TECTA,TECTAc.3121G= (p.Glu1041=)
c.428G=
c.4078G= (p.Glu1360=)
11g.121137600G>TCA229825518TBCEL-TECTA,TECTAc.3121G>T (p.Glu1041Ter)
c.428G>T
c.4078G>T (p.Glu1360Ter)
 dbSNP
11g.121137601A>CCA383018996TBCEL-TECTA,TECTAc.3122A>C (p.Glu1041Ala)
c.429A>C
c.4079A>C (p.Glu1360Ala)
11g.121137601A>GCA383018997TBCEL-TECTA,TECTAc.3122A>G (p.Glu1041Gly)
c.429A>G
c.4079A>G (p.Glu1360Gly)
 gnomAD v4
11g.121137601A>TCA383018998TBCEL-TECTA,TECTAc.3122A>T (p.Glu1041Val)
c.429A>T
c.4079A>T (p.Glu1360Val)
11g.121137602G>ACA477382635TBCEL-TECTA,TECTAc.3123G>A (p.Glu1041=)
c.430G>A
c.4080G>A (p.Glu1360=)
 dbSNP
11g.121137602G>CCA6327158TBCEL-TECTA,TECTAc.3123G>C (p.Glu1041Asp)
c.430G>C
c.4080G>C (p.Glu1360Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121137602G=CA2004733793TBCEL-TECTA,TECTAc.3123G= (p.Glu1041=)
c.430G=
c.4080G= (p.Glu1360=)
11g.121137602G>TCA383018999TBCEL-TECTA,TECTAc.3123G>T (p.Glu1041Asp)
c.430G>T
c.4080G>T (p.Glu1360Asp)
11g.121137605delCA2575008417TBCEL-TECTA,TECTAc.3126del (p.His1043ThrfsTer?)
c.433del
c.4083del (p.His1362ThrfsTer?)
11g.121137603G>ACA383019000TBCEL-TECTA,TECTAc.3124G>A (p.Gly1042Arg)
c.431G>A
c.4081G>A (p.Gly1361Arg)
11g.121137603G>CCA383019001TBCEL-TECTA,TECTAc.3124G>C (p.Gly1042Arg)
c.431G>C
c.4081G>C (p.Gly1361Arg)
11g.121137603G>TCA383019002TBCEL-TECTA,TECTAc.3124G>T (p.Gly1042Trp)
c.431G>T
c.4081G>T (p.Gly1361Trp)
11g.121137604G>ACA383019003TBCEL-TECTA,TECTAc.3125G>A (p.Gly1042Glu)
c.432G>A
c.4082G>A (p.Gly1361Glu)
11g.121137604G>CCA383019005TBCEL-TECTA,TECTAc.3125G>C (p.Gly1042Ala)
c.432G>C
c.4082G>C (p.Gly1361Ala)
11g.121137604G>TCA383019004TBCEL-TECTA,TECTAc.3125G>T (p.Gly1042Val)
c.432G>T
c.4082G>T (p.Gly1361Val)
11g.121137605G>ACA229825528TBCEL-TECTA,TECTAc.3126G>A (p.Gly1042=)
c.433G>A
c.4083G>A (p.Gly1361=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121137605G>CCA477382643TBCEL-TECTA,TECTAc.3126G>C (p.Gly1042=)
c.433G>C
c.4083G>C (p.Gly1361=)
11g.121137605G=CA2004733795TBCEL-TECTA,TECTAc.3126G= (p.Gly1042=)
c.433G=
c.4083G= (p.Gly1361=)
11g.121137605G>TCA477382641TBCEL-TECTA,TECTAc.3126G>T (p.Gly1042=)
c.433G>T
c.4083G>T (p.Gly1361=)
11g.121137606C>ACA383019006TBCEL-TECTA,TECTAc.3127C>A (p.His1043Asn)
c.434C>A
c.4084C>A (p.His1362Asn)
11g.121137606C>GCA383019007TBCEL-TECTA,TECTAc.3127C>G (p.His1043Asp)
c.434C>G
c.4084C>G (p.His1362Asp)
11g.121137606C>TCA383019008TBCEL-TECTA,TECTAc.3127C>T (p.His1043Tyr)
c.434C>T
c.4084C>T (p.His1362Tyr)
 gnomAD v4
11g.121137607A=CA2004733799TBCEL-TECTA,TECTAc.3128A= (p.His1043=)
c.435A=
c.4085A= (p.His1362=)
11g.121137607A>CCA383019009TBCEL-TECTA,TECTAc.3128A>C (p.His1043Pro)
c.435A>C
c.4085A>C (p.His1362Pro)
 ClinVar dbSNP gnomAD v4
11g.121137607A>GCA383019010TBCEL-TECTA,TECTAc.3128A>G (p.His1043Arg)
c.435A>G
c.4085A>G (p.His1362Arg)
 gnomAD v4
11g.121137607A>TCA383019011TBCEL-TECTA,TECTAc.3128A>T (p.His1043Leu)
c.435A>T
c.4085A>T (p.His1362Leu)
11g.121137608C>ACA383019012TBCEL-TECTA,TECTAc.3129C>A (p.His1043Gln)
c.436C>A
c.4086C>A (p.His1362Gln)
11g.121137608C>GCA383019013TBCEL-TECTA,TECTAc.3129C>G (p.His1043Gln)
c.436C>G
c.4086C>G (p.His1362Gln)
11g.121137608C>TCA477382646TBCEL-TECTA,TECTAc.3129C>T (p.His1043=)
c.436C>T
c.4086C>T (p.His1362=)
11g.121137609C>ACA383019014TBCEL-TECTA,TECTAc.3130C>A (p.Gln1044Lys)
c.437C>A
c.4087C>A (p.Gln1363Lys)
 gnomAD v4
11g.121137609C=CA2004733802TBCEL-TECTA,TECTAc.3130C= (p.Gln1044=)
c.437C=
c.4087C= (p.Gln1363=)
11g.121137609C>GCA6327159TBCEL-TECTA,TECTAc.3130C>G (p.Gln1044Glu)
c.437C>G
c.4087C>G (p.Gln1363Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121137609C>TCA383019015TBCEL-TECTA,TECTAc.3130C>T (p.Gln1044Ter)
c.437C>T
c.4087C>T (p.Gln1363Ter)
11g.121137610A>CCA383019017TBCEL-TECTA,TECTAc.3131A>C (p.Gln1044Pro)
c.438A>C
c.4088A>C (p.Gln1363Pro)
11g.121137610A>GCA383019018TBCEL-TECTA,TECTAc.3131A>G (p.Gln1044Arg)
c.438A>G
c.4088A>G (p.Gln1363Arg)
 gnomAD v4
11g.121137610A>TCA383019016TBCEL-TECTA,TECTAc.3131A>T (p.Gln1044Leu)
c.438A>T
c.4088A>T (p.Gln1363Leu)
11g.121137611A=CA2004733804TBCEL-TECTA,TECTAc.3132A= (p.Gln1044=)
c.439A=
c.4089A= (p.Gln1363=)
11g.121137611A>CCA10630121TBCEL-TECTA,TECTAc.3132A>C (p.Gln1044His)
c.439A>C
c.4089A>C (p.Gln1363His)
 ClinVar dbSNP
11g.121137611A>GCA477382651TBCEL-TECTA,TECTAc.3132A>G (p.Gln1044=)
c.439A>G
c.4089A>G (p.Gln1363=)
 gnomAD v4
11g.121137611A>TCA383019019TBCEL-TECTA,TECTAc.3132A>T (p.Gln1044His)
c.439A>T
c.4089A>T (p.Gln1363His)
11g.121137612C>ACA383019020TBCEL-TECTA,TECTAc.3133C>A (p.Leu1045Ile)
c.440C>A
c.4090C>A (p.Leu1364Ile)
11g.121137612C>GCA383019021TBCEL-TECTA,TECTAc.3133C>G (p.Leu1045Val)
c.440C>G
c.4090C>G (p.Leu1364Val)
11g.121137612C>TCA383019022TBCEL-TECTA,TECTAc.3133C>T (p.Leu1045Phe)
c.440C>T
c.4090C>T (p.Leu1364Phe)
11g.121137613T>ACA383019023TBCEL-TECTA,TECTAc.3134T>A (p.Leu1045His)
c.441T>A
c.4091T>A (p.Leu1364His)
 COSMIC
11g.121137613T>CCA383019024TBCEL-TECTA,TECTAc.3134T>C (p.Leu1045Pro)
c.441T>C
c.4091T>C (p.Leu1364Pro)
11g.121137613T>GCA383019025TBCEL-TECTA,TECTAc.3134T>G (p.Leu1045Arg)
c.441T>G
c.4091T>G (p.Leu1364Arg)
 COSMIC
11g.121137614T>ACA477382656TBCEL-TECTA,TECTAc.3135T>A (p.Leu1045=)
c.442T>A
c.4092T>A (p.Leu1364=)
11g.121137614T>CCA477382661TBCEL-TECTA,TECTAc.3135T>C (p.Leu1045=)
c.442T>C
c.4092T>C (p.Leu1364=)
11g.121137614T>GCA477382658TBCEL-TECTA,TECTAc.3135T>G (p.Leu1045=)
c.442T>G
c.4092T>G (p.Leu1364=)
11g.121137615G>ACA383019026TBCEL-TECTA,TECTAc.3136G>A (p.Ala1046Thr)
c.443G>A
c.4093G>A (p.Ala1365Thr)
11g.121137615G>CCA383019027TBCEL-TECTA,TECTAc.3136G>C (p.Ala1046Pro)
c.443G>C
c.4093G>C (p.Ala1365Pro)
11g.121137615G>TCA383019028TBCEL-TECTA,TECTAc.3136G>T (p.Ala1046Ser)
c.443G>T
c.4093G>T (p.Ala1365Ser)
11g.121137616C>ACA383019029TBCEL-TECTA,TECTAc.3137C>A (p.Ala1046Asp)
c.444C>A
c.4094C>A (p.Ala1365Asp)
 COSMIC
11g.121137616C>GCA383019030TBCEL-TECTA,TECTAc.3137C>G (p.Ala1046Gly)
c.444C>G
c.4094C>G (p.Ala1365Gly)
11g.121137616C>TCA383019031TBCEL-TECTA,TECTAc.3137C>T (p.Ala1046Val)
c.444C>T
c.4094C>T (p.Ala1365Val)
11g.121137617C>ACA477382666TBCEL-TECTA,TECTAc.3138C>A (p.Ala1046=)
c.445C>A
c.4095C>A (p.Ala1365=)
11g.121137617C=CA2004733806TBCEL-TECTA,TECTAc.3138C= (p.Ala1046=)
c.445C=
c.4095C= (p.Ala1365=)
11g.121137617C>GCA477382667TBCEL-TECTA,TECTAc.3138C>G (p.Ala1046=)
c.445C>G
c.4095C>G (p.Ala1365=)
11g.121137617C>TCA10633811TBCEL-TECTA,TECTAc.3138C>T (p.Ala1046=)
c.445C>T
c.4095C>T (p.Ala1365=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121137618A>CCA383019032TBCEL-TECTA,TECTAc.3139A>C (p.Thr1047Pro)
c.446A>C
c.4096A>C (p.Thr1366Pro)
11g.121137618A>GCA383019034TBCEL-TECTA,TECTAc.3139A>G (p.Thr1047Ala)
c.446A>G
c.4096A>G (p.Thr1366Ala)
11g.121137618A>TCA383019033TBCEL-TECTA,TECTAc.3139A>T (p.Thr1047Ser)
c.446A>T
c.4096A>T (p.Thr1366Ser)
11g.121137621_121137629delCA2793886326TBCEL-TECTA,TECTAc.3142_3150del (p.Asn1048_Thr1050del)
c.449_457del
c.4099_4107del (p.Asn1367_Thr1369del)
11g.121137619C>ACA383019035TBCEL-TECTA,TECTAc.3140C>A (p.Thr1047Asn)
c.447C>A
c.4097C>A (p.Thr1366Asn)
 gnomAD v4
11g.121137619C=CA2004733808TBCEL-TECTA,TECTAc.3140C= (p.Thr1047=)
c.447C=
c.4097C= (p.Thr1366=)
11g.121137619C>GCA383019036TBCEL-TECTA,TECTAc.3140C>G (p.Thr1047Ser)
c.447C>G
c.4097C>G (p.Thr1366Ser)
 dbSNP
11g.121137619C>TCA383019037TBCEL-TECTA,TECTAc.3140C>T (p.Thr1047Ile)
c.447C>T
c.4097C>T (p.Thr1366Ile)
11g.121137620C>ACA229825543TBCEL-TECTA,TECTAc.3141C>A (p.Thr1047=)
c.448C>A
c.4098C>A (p.Thr1366=)
 dbSNP gnomAD v4
11g.121137620C=CA2004733810TBCEL-TECTA,TECTAc.3141C= (p.Thr1047=)
c.448C=
c.4098C= (p.Thr1366=)
11g.121137620C>GCA477382672TBCEL-TECTA,TECTAc.3141C>G (p.Thr1047=)
c.448C>G
c.4098C>G (p.Thr1366=)
11g.121137620C>TCA477382674TBCEL-TECTA,TECTAc.3141C>T (p.Thr1047=)
c.448C>T
c.4098C>T (p.Thr1366=)
 gnomAD v4
11g.121137621A>CCA383019038TBCEL-TECTA,TECTAc.3142A>C (p.Asn1048His)
c.449A>C
c.4099A>C (p.Asn1367His)
11g.121137621A>GCA383019039TBCEL-TECTA,TECTAc.3142A>G (p.Asn1048Asp)
c.449A>G
c.4099A>G (p.Asn1367Asp)
11g.121137621A>TCA383019040TBCEL-TECTA,TECTAc.3142A>T (p.Asn1048Tyr)
c.449A>T
c.4099A>T (p.Asn1367Tyr)
11g.121137622A=CA2004733812TBCEL-TECTA,TECTAc.3143A= (p.Asn1048=)
c.450A=
c.4100A= (p.Asn1367=)
11g.121137622A>CCA383019041TBCEL-TECTA,TECTAc.3143A>C (p.Asn1048Thr)
c.450A>C
c.4100A>C (p.Asn1367Thr)
11g.121137622A>GCA6327160TBCEL-TECTA,TECTAc.3143A>G (p.Asn1048Ser)
c.450A>G
c.4100A>G (p.Asn1367Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121137622A>TCA383019042TBCEL-TECTA,TECTAc.3143A>T (p.Asn1048Ile)
c.450A>T
c.4100A>T (p.Asn1367Ile)
11g.121137623T>ACA383019043TBCEL-TECTA,TECTAc.3144T>A (p.Asn1048Lys)
c.451T>A
c.4101T>A (p.Asn1367Lys)
11g.121137623T>CCA477382677TBCEL-TECTA,TECTAc.3144T>C (p.Asn1048=)
c.451T>C
c.4101T>C (p.Asn1367=)
11g.121137623T>GCA383019044TBCEL-TECTA,TECTAc.3144T>G (p.Asn1048Lys)
c.451T>G
c.4101T>G (p.Asn1367Lys)
 gnomAD v3 gnomAD v4
11g.121137624G>ACA383019047TBCEL-TECTA,TECTAc.3145G>A (p.Glu1049Lys)
c.452G>A
c.4102G>A (p.Glu1368Lys)
11g.121137624G>CCA383019046TBCEL-TECTA,TECTAc.3145G>C (p.Glu1049Gln)
c.452G>C
c.4102G>C (p.Glu1368Gln)
11g.121137624G>TCA383019045TBCEL-TECTA,TECTAc.3145G>T (p.Glu1049Ter)
c.452G>T
c.4102G>T (p.Glu1368Ter)
11g.121137625A=CA2004733813TBCEL-TECTA,TECTAc.3146A= (p.Glu1049=)
c.453A=
c.4103A= (p.Glu1368=)
11g.121137625A>CCA383019050TBCEL-TECTA,TECTAc.3146A>C (p.Glu1049Ala)
c.453A>C
c.4103A>C (p.Glu1368Ala)
11g.121137625A>GCA383019048TBCEL-TECTA,TECTAc.3146A>G (p.Glu1049Gly)
c.453A>G
c.4103A>G (p.Glu1368Gly)
 dbSNP
11g.121137625A>TCA383019049TBCEL-TECTA,TECTAc.3146A>T (p.Glu1049Val)
c.453A>T
c.4103A>T (p.Glu1368Val)
11g.121137626G>ACA477382683TBCEL-TECTA,TECTAc.3147G>A (p.Glu1049=)
c.454G>A
c.4104G>A (p.Glu1368=)
11g.121137626G>CCA383019051TBCEL-TECTA,TECTAc.3147G>C (p.Glu1049Asp)
c.454G>C
c.4104G>C (p.Glu1368Asp)
11g.121137626G>TCA383019052TBCEL-TECTA,TECTAc.3147G>T (p.Glu1049Asp)
c.454G>T
c.4104G>T (p.Glu1368Asp)
11g.121137627A>CCA383019053TBCEL-TECTA,TECTAc.3148A>C (p.Thr1050Pro)
c.455A>C
c.4105A>C (p.Thr1369Pro)
11g.121137627A>GCA383019054TBCEL-TECTA,TECTAc.3148A>G (p.Thr1050Ala)
c.455A>G
c.4105A>G (p.Thr1369Ala)
11g.121137627A>TCA383019055TBCEL-TECTA,TECTAc.3148A>T (p.Thr1050Ser)
c.455A>T
c.4105A>T (p.Thr1369Ser)
11g.121137628C>ACA383019056TBCEL-TECTA,TECTAc.3149C>A (p.Thr1050Asn)
c.456C>A
c.4106C>A (p.Thr1369Asn)
 dbSNP
11g.121137628C=CA2004733816TBCEL-TECTA,TECTAc.3149C= (p.Thr1050=)
c.456C=
c.4106C= (p.Thr1369=)
11g.121137628C>GCA383019058TBCEL-TECTA,TECTAc.3149C>G (p.Thr1050Ser)
c.456C>G
c.4106C>G (p.Thr1369Ser)
11g.121137628C>TCA383019057TBCEL-TECTA,TECTAc.3149C>T (p.Thr1050Ile)
c.456C>T
c.4106C>T (p.Thr1369Ile)
 gnomAD v4
11g.121137628_121137631delinsCCTTCA2004733815TBCEL-TECTA,TECTAc.3149_3152delinsCCTT (p.Thr1050=)
c.456_459delinsCCTT
c.4106_4109delinsCCTT (p.Thr1369=)
11g.121137629C>ACA6327161TBCEL-TECTA,TECTAc.3150C>A (p.Thr1050=)
c.457C>A
c.4107C>A (p.Thr1369=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121137629C=CA2004733819TBCEL-TECTA,TECTAc.3150C= (p.Thr1050=)
c.457C=
c.4107C= (p.Thr1369=)
11g.121137629C>GCA477382690TBCEL-TECTA,TECTAc.3150C>G (p.Thr1050=)
c.457C>G
c.4107C>G (p.Thr1369=)
11g.121137629C>TCA477382689TBCEL-TECTA,TECTAc.3150C>T (p.Thr1050=)
c.457C>T
c.4107C>T (p.Thr1369=)
 dbSNP gnomAD v4
11g.121137631_121137633delCA602580272TBCEL-TECTA,TECTAc.3152_3154del (p.Phe1051del)
c.459_461del
c.4109_4111del (p.Phe1370del)
 dbSNP gnomAD v2 gnomAD v4
11g.121137630T>ACA383019059TBCEL-TECTA,TECTAc.3151T>A (p.Phe1051Ile)
c.458T>A
c.4108T>A (p.Phe1370Ile)
11g.121137630T>CCA383019060TBCEL-TECTA,TECTAc.3151T>C (p.Phe1051Leu)
c.458T>C
c.4108T>C (p.Phe1370Leu)
 gnomAD v4
11g.121137630T>GCA383019061TBCEL-TECTA,TECTAc.3151T>G (p.Phe1051Val)
c.458T>G
c.4108T>G (p.Phe1370Val)
 dbSNP gnomAD v2 gnomAD v4
11g.121137630T=CA2004733821TBCEL-TECTA,TECTAc.3151T= (p.Phe1051=)
c.458T=
c.4108T= (p.Phe1370=)

Number of alleles fetched