Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.121137505G>ACA383018535TBCEL-TECTA,TECTAc.3026G>A (p.Cys1009Tyr)
c.333G>A
c.3983G>A (p.Cys1328Tyr)
11g.121137505G>CCA383018533TBCEL-TECTA,TECTAc.3026G>C (p.Cys1009Ser)
c.333G>C
c.3983G>C (p.Cys1328Ser)
11g.121137505G>TCA383018531TBCEL-TECTA,TECTAc.3026G>T (p.Cys1009Phe)
c.333G>T
c.3983G>T (p.Cys1328Phe)
 gnomAD v4
11g.121137506C>ACA383018540TBCEL-TECTA,TECTAc.3027C>A (p.Cys1009Ter)
c.334C>A
c.3984C>A (p.Cys1328Ter)
11g.121137506C=CA2004733707TBCEL-TECTA,TECTAc.3027C= (p.Cys1009=)
c.334C=
c.3984C= (p.Cys1328=)
11g.121137506C>GCA383018538TBCEL-TECTA,TECTAc.3027C>G (p.Cys1009Trp)
c.334C>G
c.3984C>G (p.Cys1328Trp)
11g.121137506C>TCA6327142TBCEL-TECTA,TECTAc.3027C>T (p.Cys1009=)
c.334C>T
c.3984C>T (p.Cys1328=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121137507G>ACA6327143TBCEL-TECTA,TECTAc.3028G>A (p.Val1010Met)
c.335G>A
c.3985G>A (p.Val1329Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.121137507G>CCA383018546TBCEL-TECTA,TECTAc.3028G>C (p.Val1010Leu)
c.335G>C
c.3985G>C (p.Val1329Leu)
11g.121137507G=CA2004733709TBCEL-TECTA,TECTAc.3028G= (p.Val1010=)
c.335G=
c.3985G= (p.Val1329=)
11g.121137507G>TCA383018545TBCEL-TECTA,TECTAc.3028G>T (p.Val1010Leu)
c.335G>T
c.3985G>T (p.Val1329Leu)
11g.121137508T>ACA383018549TBCEL-TECTA,TECTAc.3029T>A (p.Val1010Glu)
c.336T>A
c.3986T>A (p.Val1329Glu)
 dbSNP gnomAD v2 gnomAD v4
11g.121137508T>CCA383018551TBCEL-TECTA,TECTAc.3029T>C (p.Val1010Ala)
c.336T>C
c.3986T>C (p.Val1329Ala)
11g.121137508T>GCA383018553TBCEL-TECTA,TECTAc.3029T>G (p.Val1010Gly)
c.336T>G
c.3986T>G (p.Val1329Gly)
11g.121137508T=CA2004733711TBCEL-TECTA,TECTAc.3029T= (p.Val1010=)
c.336T=
c.3986T= (p.Val1329=)
11g.121137509G>ACA477382455TBCEL-TECTA,TECTAc.3030G>A (p.Val1010=)
c.337G>A
c.3987G>A (p.Val1329=)
11g.121137509G>CCA477382456TBCEL-TECTA,TECTAc.3030G>C (p.Val1010=)
c.337G>C
c.3987G>C (p.Val1329=)
11g.121137509G>TCA477382459TBCEL-TECTA,TECTAc.3030G>T (p.Val1010=)
c.337G>T
c.3987G>T (p.Val1329=)
11g.121137510G>ACA383018555TBCEL-TECTA,TECTAc.3031G>A (p.Asp1011Asn)
c.338G>A
c.3988G>A (p.Asp1330Asn)
 gnomAD v4
11g.121137510G>CCA383018557TBCEL-TECTA,TECTAc.3031G>C (p.Asp1011His)
c.338G>C
c.3988G>C (p.Asp1330His)
 gnomAD v4
11g.121137510G>TCA383018559TBCEL-TECTA,TECTAc.3031G>T (p.Asp1011Tyr)
c.338G>T
c.3988G>T (p.Asp1330Tyr)
 COSMIC
11g.121137511A>CCA383018561TBCEL-TECTA,TECTAc.3032A>C (p.Asp1011Ala)
c.339A>C
c.3989A>C (p.Asp1330Ala)
11g.121137511A>GCA383018563TBCEL-TECTA,TECTAc.3032A>G (p.Asp1011Gly)
c.339A>G
c.3989A>G (p.Asp1330Gly)
11g.121137511A>TCA383018565TBCEL-TECTA,TECTAc.3032A>T (p.Asp1011Val)
c.339A>T
c.3989A>T (p.Asp1330Val)
11g.121137512T>ACA383018566TBCEL-TECTA,TECTAc.3033T>A (p.Asp1011Glu)
c.340T>A
c.3990T>A (p.Asp1330Glu)
11g.121137512T>CCA477382468TBCEL-TECTA,TECTAc.3033T>C (p.Asp1011=)
c.340T>C
c.3990T>C (p.Asp1330=)
 dbSNP gnomAD v2 gnomAD v4
11g.121137512T>GCA383018568TBCEL-TECTA,TECTAc.3033T>G (p.Asp1011Glu)
c.340T>G
c.3990T>G (p.Asp1330Glu)
11g.121137512T=CA2004733713TBCEL-TECTA,TECTAc.3033T= (p.Asp1011=)
c.340T=
c.3990T= (p.Asp1330=)
11g.121137513A>CCA383018574TBCEL-TECTA,TECTAc.3034A>C (p.Ser1012Arg)
c.341A>C
c.3991A>C (p.Ser1331Arg)
11g.121137513A>GCA383018570TBCEL-TECTA,TECTAc.3034A>G (p.Ser1012Gly)
c.341A>G
c.3991A>G (p.Ser1331Gly)
11g.121137513A>TCA383018572TBCEL-TECTA,TECTAc.3034A>T (p.Ser1012Cys)
c.341A>T
c.3991A>T (p.Ser1331Cys)
11g.121137514G>ACA383018576TBCEL-TECTA,TECTAc.3035G>A (p.Ser1012Asn)
c.342G>A
c.3992G>A (p.Ser1331Asn)
11g.121137514G>CCA383018578TBCEL-TECTA,TECTAc.3035G>C (p.Ser1012Thr)
c.342G>C
c.3992G>C (p.Ser1331Thr)
11g.121137514G>TCA383018580TBCEL-TECTA,TECTAc.3035G>T (p.Ser1012Ile)
c.342G>T
c.3992G>T (p.Ser1331Ile)
 dbSNP
11g.121137515_121137522delCA2575008416TBCEL-TECTA,TECTAc.3036_3043del (p.Ser1012ArgfsTer6)
c.343_350del
c.3993_4000del (p.Ser1331ArgfsTer6)
11g.121137515C>ACA383018582TBCEL-TECTA,TECTAc.3036C>A (p.Ser1012Arg)
c.343C>A
c.3993C>A (p.Ser1331Arg)
11g.121137515C>GCA383018584TBCEL-TECTA,TECTAc.3036C>G (p.Ser1012Arg)
c.343C>G
c.3993C>G (p.Ser1331Arg)
11g.121137515C>TCA477382476TBCEL-TECTA,TECTAc.3036C>T (p.Ser1012=)
c.343C>T
c.3993C>T (p.Ser1331=)
 COSMIC
11g.121137516T>ACA383018587TBCEL-TECTA,TECTAc.3037T>A (p.Cys1013Ser)
c.344T>A
c.3994T>A (p.Cys1332Ser)
 dbSNP gnomAD v4
11g.121137516T>CCA383018589TBCEL-TECTA,TECTAc.3037T>C (p.Cys1013Arg)
c.344T>C
c.3994T>C (p.Cys1332Arg)
11g.121137516T>GCA383018590TBCEL-TECTA,TECTAc.3037T>G (p.Cys1013Gly)
c.344T>G
c.3994T>G (p.Cys1332Gly)
11g.121137516T=CA2004733715TBCEL-TECTA,TECTAc.3037T= (p.Cys1013=)
c.344T=
c.3994T= (p.Cys1332=)
11g.121137517G>ACA383018593TBCEL-TECTA,TECTAc.3038G>A (p.Cys1013Tyr)
c.345G>A
c.3995G>A (p.Cys1332Tyr)
11g.121137517G>CCA6327144TBCEL-TECTA,TECTAc.3038G>C (p.Cys1013Ser)
c.345G>C
c.3995G>C (p.Cys1332Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121137517G=CA2004733716TBCEL-TECTA,TECTAc.3038G= (p.Cys1013=)
c.345G=
c.3995G= (p.Cys1332=)
11g.121137517G>TCA383018595TBCEL-TECTA,TECTAc.3038G>T (p.Cys1013Phe)
c.345G>T
c.3995G>T (p.Cys1332Phe)
11g.121137518C>ACA383018599TBCEL-TECTA,TECTAc.3039C>A (p.Cys1013Ter)
c.346C>A
c.3996C>A (p.Cys1332Ter)
11g.121137518C>GCA383018597TBCEL-TECTA,TECTAc.3039C>G (p.Cys1013Trp)
c.346C>G
c.3996C>G (p.Cys1332Trp)
11g.121137518C>TCA477382483TBCEL-TECTA,TECTAc.3039C>T (p.Cys1013=)
c.346C>T
c.3996C>T (p.Cys1332=)
 COSMIC
11g.121137519T>ACA383018601TBCEL-TECTA,TECTAc.3040T>A (p.Ser1014Thr)
c.347T>A
c.3997T>A (p.Ser1333Thr)
11g.121137519T>CCA383018603TBCEL-TECTA,TECTAc.3040T>C (p.Ser1014Pro)
c.347T>C
c.3997T>C (p.Ser1333Pro)
 gnomAD v4
11g.121137519T>GCA383018605TBCEL-TECTA,TECTAc.3040T>G (p.Ser1014Ala)
c.347T>G
c.3997T>G (p.Ser1333Ala)
11g.121137520C>ACA383018608TBCEL-TECTA,TECTAc.3041C>A (p.Ser1014Tyr)
c.348C>A
c.3998C>A (p.Ser1333Tyr)
11g.121137520C>GCA383018610TBCEL-TECTA,TECTAc.3041C>G (p.Ser1014Cys)
c.348C>G
c.3998C>G (p.Ser1333Cys)
 gnomAD v4
11g.121137520C>TCA383018612TBCEL-TECTA,TECTAc.3041C>T (p.Ser1014Phe)
c.348C>T
c.3998C>T (p.Ser1333Phe)
11g.121137521T>ACA477382486TBCEL-TECTA,TECTAc.3042T>A (p.Ser1014=)
c.349T>A
c.3999T>A (p.Ser1333=)
11g.121137521T>CCA477382487TBCEL-TECTA,TECTAc.3042T>C (p.Ser1014=)
c.349T>C
c.3999T>C (p.Ser1333=)
 dbSNP gnomAD v4
11g.121137521T>GCA477382490TBCEL-TECTA,TECTAc.3042T>G (p.Ser1014=)
c.349T>G
c.3999T>G (p.Ser1333=)
 dbSNP gnomAD v2 gnomAD v4
11g.121137521T=CA2004733718TBCEL-TECTA,TECTAc.3042T= (p.Ser1014=)
c.349T=
c.3999T= (p.Ser1333=)
11g.121137522G>ACA6327146TBCEL-TECTA,TECTAc.3043G>A (p.Glu1015Lys)
c.350G>A
c.4000G>A (p.Glu1334Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.121137522G>CCA6327145TBCEL-TECTA,TECTAc.3043G>C (p.Glu1015Gln)
c.350G>C
c.4000G>C (p.Glu1334Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121137522G=CA2004733720TBCEL-TECTA,TECTAc.3043G= (p.Glu1015=)
c.350G=
c.4000G= (p.Glu1334=)
11g.121137522G>TCA383018616TBCEL-TECTA,TECTAc.3043G>T (p.Glu1015Ter)
c.350G>T
c.4000G>T (p.Glu1334Ter)
11g.121137523A>CCA383018619TBCEL-TECTA,TECTAc.3044A>C (p.Glu1015Ala)
c.351A>C
c.4001A>C (p.Glu1334Ala)
11g.121137523A>GCA383018621TBCEL-TECTA,TECTAc.3044A>G (p.Glu1015Gly)
c.351A>G
c.4001A>G (p.Glu1334Gly)
11g.121137523A>TCA383018623TBCEL-TECTA,TECTAc.3044A>T (p.Glu1015Val)
c.351A>T
c.4001A>T (p.Glu1334Val)
11g.121137524G>ACA477382494TBCEL-TECTA,TECTAc.3045G>A (p.Glu1015=)
c.352G>A
c.4002G>A (p.Glu1334=)
11g.121137524G>CCA383018625TBCEL-TECTA,TECTAc.3045G>C (p.Glu1015Asp)
c.352G>C
c.4002G>C (p.Glu1334Asp)
11g.121137524G>TCA383018627TBCEL-TECTA,TECTAc.3045G>T (p.Glu1015Asp)
c.352G>T
c.4002G>T (p.Glu1334Asp)
11g.121137525G>ACA383018630TBCEL-TECTA,TECTAc.3046G>A (p.Gly1016Arg)
c.353G>A
c.4003G>A (p.Gly1335Arg)
 dbSNP gnomAD v3 gnomAD v4
11g.121137525G>CCA383018632TBCEL-TECTA,TECTAc.3046G>C (p.Gly1016Arg)
c.353G>C
c.4003G>C (p.Gly1335Arg)
11g.121137525G=CA2004733721TBCEL-TECTA,TECTAc.3046G= (p.Gly1016=)
c.353G=
c.4003G= (p.Gly1335=)
11g.121137525G>TCA383018631TBCEL-TECTA,TECTAc.3046G>T (p.Gly1016Ter)
c.353G>T
c.4003G>T (p.Gly1335Ter)
11g.121137526G>ACA383018635TBCEL-TECTA,TECTAc.3047G>A (p.Gly1016Glu)
c.354G>A
c.4004G>A (p.Gly1335Glu)
11g.121137526G>CCA383018636TBCEL-TECTA,TECTAc.3047G>C (p.Gly1016Ala)
c.354G>C
c.4004G>C (p.Gly1335Ala)
 dbSNP gnomAD v2 gnomAD v4
11g.121137526G=CA2004733723TBCEL-TECTA,TECTAc.3047G= (p.Gly1016=)
c.354G=
c.4004G= (p.Gly1335=)
11g.121137526G>TCA383018638TBCEL-TECTA,TECTAc.3047G>T (p.Gly1016Val)
c.354G>T
c.4004G>T (p.Gly1335Val)
11g.121137527A>CCA477382502TBCEL-TECTA,TECTAc.3048A>C (p.Gly1016=)
c.355A>C
c.4005A>C (p.Gly1335=)
11g.121137527A>GCA477382505TBCEL-TECTA,TECTAc.3048A>G (p.Gly1016=)
c.355A>G
c.4005A>G (p.Gly1335=)
11g.121137527A>TCA477382504TBCEL-TECTA,TECTAc.3048A>T (p.Gly1016=)
c.355A>T
c.4005A>T (p.Gly1335=)
11g.121137528T>ACA383018640TBCEL-TECTA,TECTAc.3049T>A (p.Cys1017Ser)
c.356T>A
c.4006T>A (p.Cys1336Ser)
11g.121137528T>CCA383018642TBCEL-TECTA,TECTAc.3049T>C (p.Cys1017Arg)
c.356T>C
c.4006T>C (p.Cys1336Arg)
 dbSNP gnomAD v3 gnomAD v4
11g.121137528T>GCA383018643TBCEL-TECTA,TECTAc.3049T>G (p.Cys1017Gly)
c.356T>G
c.4006T>G (p.Cys1336Gly)
11g.121137528T=CA2004733724TBCEL-TECTA,TECTAc.3049T= (p.Cys1017=)
c.356T=
c.4006T= (p.Cys1336=)
11g.121137529G>ACA383018644TBCEL-TECTA,TECTAc.3050G>A (p.Cys1017Tyr)
c.357G>A
c.4007G>A (p.Cys1336Tyr)
11g.121137529G>CCA383018646TBCEL-TECTA,TECTAc.3050G>C (p.Cys1017Ser)
c.357G>C
c.4007G>C (p.Cys1336Ser)
11g.121137529G>TCA383018648TBCEL-TECTA,TECTAc.3050G>T (p.Cys1017Phe)
c.357G>T
c.4007G>T (p.Cys1336Phe)
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=)

Number of alleles fetched