Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.121145689_121145694dupCA2616488431TBCEL-TECTA,TECTAc.3678_3683dup (p.Thr1228_Val1229insIleThr)
c.985_990dup
n.243_248dup
c.4635_4640dup (p.Thr1547_Val1548insIleThr)
 gnomAD v4
11g.121145689C>ACA477382766TBCEL-TECTA,TECTAc.3678C>A (p.Ser1226=)
c.985C>A
n.243C>A
c.4635C>A (p.Ser1545=)
11g.121145689C>GCA477382767TBCEL-TECTA,TECTAc.3678C>G (p.Ser1226=)
c.985C>G
n.243C>G
c.4635C>G (p.Ser1545=)
11g.121145689C>TCA477382768TBCEL-TECTA,TECTAc.3678C>T (p.Ser1226=)
c.985C>T
n.243C>T
c.4635C>T (p.Ser1545=)
 gnomAD v4
11g.121145690A>CCA383021708TBCEL-TECTA,TECTAc.3679A>C (p.Ile1227Leu)
c.986A>C
n.244A>C
c.4636A>C (p.Ile1546Leu)
11g.121145690A>GCA383021711TBCEL-TECTA,TECTAc.3679A>G (p.Ile1227Val)
c.986A>G
n.244A>G
c.4636A>G (p.Ile1546Val)
11g.121145690A>TCA383021714TBCEL-TECTA,TECTAc.3679A>T (p.Ile1227Phe)
c.986A>T
n.244A>T
c.4636A>T (p.Ile1546Phe)
11g.121145691T>ACA383021724TBCEL-TECTA,TECTAc.3680T>A (p.Ile1227Asn)
c.987T>A
n.245T>A
c.4637T>A (p.Ile1546Asn)
11g.121145691T>CCA383021721TBCEL-TECTA,TECTAc.3680T>C (p.Ile1227Thr)
c.987T>C
n.245T>C
c.4637T>C (p.Ile1546Thr)
11g.121145691T>GCA383021718TBCEL-TECTA,TECTAc.3680T>G (p.Ile1227Ser)
c.987T>G
n.245T>G
c.4637T>G (p.Ile1546Ser)
11g.121145692C>ACA477382771TBCEL-TECTA,TECTAc.3681C>A (p.Ile1227=)
c.988C>A
n.246C>A
c.4638C>A (p.Ile1546=)
11g.121145692C>GCA383021727TBCEL-TECTA,TECTAc.3681C>G (p.Ile1227Met)
c.988C>G
n.246C>G
c.4638C>G (p.Ile1546Met)
11g.121145692C>TCA477382770TBCEL-TECTA,TECTAc.3681C>T (p.Ile1227=)
c.988C>T
n.246C>T
c.4638C>T (p.Ile1546=)
11g.121145693A>CCA383021731TBCEL-TECTA,TECTAc.3682A>C (p.Thr1228Pro)
c.989A>C
n.247A>C
c.4639A>C (p.Thr1547Pro)
11g.121145693A>GCA383021734TBCEL-TECTA,TECTAc.3682A>G (p.Thr1228Ala)
c.989A>G
n.247A>G
c.4639A>G (p.Thr1547Ala)
11g.121145693A>TCA383021736TBCEL-TECTA,TECTAc.3682A>T (p.Thr1228Ser)
c.989A>T
n.247A>T
c.4639A>T (p.Thr1547Ser)
11g.121145694C>ACA383021739TBCEL-TECTA,TECTAc.3683C>A (p.Thr1228Lys)
c.990C>A
n.248C>A
c.4640C>A (p.Thr1547Lys)
11g.121145694C=CA2004737490TBCEL-TECTA,TECTAc.3683C= (p.Thr1228=)
c.990C=
n.248C=
c.4640C= (p.Thr1547=)
11g.121145694C>GCA383021745TBCEL-TECTA,TECTAc.3683C>G (p.Thr1228Arg)
c.990C>G
n.248C>G
c.4640C>G (p.Thr1547Arg)
 dbSNP gnomAD v2 gnomAD v4
11g.121145694C>TCA383021747TBCEL-TECTA,TECTAc.3683C>T (p.Thr1228Ile)
c.990C>T
n.248C>T
c.4640C>T (p.Thr1547Ile)
11g.121145695A>CCA477382775TBCEL-TECTA,TECTAc.3684A>C (p.Thr1228=)
c.991A>C
n.249A>C
c.4641A>C (p.Thr1547=)
11g.121145695A>GCA477382773TBCEL-TECTA,TECTAc.3684A>G (p.Thr1228=)
c.991A>G
n.249A>G
c.4641A>G (p.Thr1547=)
 ClinVar
11g.121145695A>TCA477382774TBCEL-TECTA,TECTAc.3684A>T (p.Thr1228=)
c.991A>T
n.249A>T
c.4641A>T (p.Thr1547=)
11g.121145695_121145696delinsAGCA2004737491TBCEL-TECTA,TECTAc.3684_3685delinsAG (p.Thr1228=)
c.991_992delinsAG
n.249_250delinsAG
c.4641_4642delinsAG (p.Thr1547=)
11g.121145696delCA6327265TBCEL-TECTA,TECTAc.3685del (p.Val1229SerfsTer?)
c.992del
n.250del
c.4642del (p.Val1548SerfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121145696G>ACA383021759TBCEL-TECTA,TECTAc.3685G>A (p.Val1229Ile)
c.992G>A
n.250G>A
c.4642G>A (p.Val1548Ile)
11g.121145696G>CCA383021751TBCEL-TECTA,TECTAc.3685G>C (p.Val1229Leu)
c.992G>C
n.250G>C
c.4642G>C (p.Val1548Leu)
11g.121145696G>TCA383021755TBCEL-TECTA,TECTAc.3685G>T (p.Val1229Phe)
c.992G>T
n.250G>T
c.4642G>T (p.Val1548Phe)
11g.121145697T>ACA383021761TBCEL-TECTA,TECTAc.3686T>A (p.Val1229Asp)
c.993T>A
n.251T>A
c.4643T>A (p.Val1548Asp)
11g.121145697T>CCA383021762TBCEL-TECTA,TECTAc.3686T>C (p.Val1229Ala)
c.993T>C
n.251T>C
c.4643T>C (p.Val1548Ala)
11g.121145697T>GCA383021767TBCEL-TECTA,TECTAc.3686T>G (p.Val1229Gly)
c.993T>G
n.251T>G
c.4643T>G (p.Val1548Gly)
11g.121145698C>ACA477382779TBCEL-TECTA,TECTAc.3687C>A (p.Val1229=)
c.994C>A
n.252C>A
c.4644C>A (p.Val1548=)
11g.121145698C=CA2004737492TBCEL-TECTA,TECTAc.3687C= (p.Val1229=)
c.994C=
n.252C=
c.4644C= (p.Val1548=)
11g.121145698C>GCA477382780TBCEL-TECTA,TECTAc.3687C>G (p.Val1229=)
c.994C>G
n.252C>G
c.4644C>G (p.Val1548=)
11g.121145698C>TCA6327266TBCEL-TECTA,TECTAc.3687C>T (p.Val1229=)
c.994C>T
n.252C>T
c.4644C>T (p.Val1548=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121145699C>ACA383021774TBCEL-TECTA,TECTAc.3688C>A (p.Pro1230Thr)
c.995C>A
n.253C>A
c.4645C>A (p.Pro1549Thr)
11g.121145699C>GCA383021783TBCEL-TECTA,TECTAc.3688C>G (p.Pro1230Ala)
c.995C>G
n.253C>G
c.4645C>G (p.Pro1549Ala)
11g.121145699C>TCA383021780TBCEL-TECTA,TECTAc.3688C>T (p.Pro1230Ser)
c.995C>T
n.253C>T
c.4645C>T (p.Pro1549Ser)
 COSMIC
11g.121145700C>ACA383021786TBCEL-TECTA,TECTAc.3689C>A (p.Pro1230His)
c.996C>A
n.254C>A
c.4646C>A (p.Pro1549His)
 dbSNP
11g.121145700C=CA2004737493TBCEL-TECTA,TECTAc.3689C= (p.Pro1230=)
c.996C=
n.254C=
c.4646C= (p.Pro1549=)
11g.121145700C>GCA383021789TBCEL-TECTA,TECTAc.3689C>G (p.Pro1230Arg)
c.996C>G
n.254C>G
c.4646C>G (p.Pro1549Arg)
11g.121145700C>TCA383021793TBCEL-TECTA,TECTAc.3689C>T (p.Pro1230Leu)
c.996C>T
n.254C>T
c.4646C>T (p.Pro1549Leu)
11g.121145701T>ACA477382784TBCEL-TECTA,TECTAc.3690T>A (p.Pro1230=)
c.997T>A
n.255T>A
c.4647T>A (p.Pro1549=)
 dbSNP
11g.121145701T>CCA477382785TBCEL-TECTA,TECTAc.3690T>C (p.Pro1230=)
c.997T>C
n.255T>C
c.4647T>C (p.Pro1549=)
11g.121145701T>GCA477382786TBCEL-TECTA,TECTAc.3690T>G (p.Pro1230=)
c.997T>G
n.255T>G
c.4647T>G (p.Pro1549=)
11g.121145701T=CA2004737494TBCEL-TECTA,TECTAc.3690T= (p.Pro1230=)
c.997T=
n.255T=
c.4647T= (p.Pro1549=)
11g.121145702C>ACA477382787TBCEL-TECTA,TECTAc.3691C>A (p.Arg1231=)
c.998C>A
n.256C>A
c.4648C>A (p.Arg1550=)
11g.121145702C=CA2004737495TBCEL-TECTA,TECTAc.3691C= (p.Arg1231=)
c.998C=
n.256C=
c.4648C= (p.Arg1550=)
11g.121145702C>GCA383021796TBCEL-TECTA,TECTAc.3691C>G (p.Arg1231Gly)
c.998C>G
n.256C>G
c.4648C>G (p.Arg1550Gly)
11g.121145702C>TCA6327267TBCEL-TECTA,TECTAc.3691C>T (p.Arg1231Trp)
c.998C>T
n.256C>T
c.4648C>T (p.Arg1550Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.121145703G>ACA6327269TBCEL-TECTA,TECTAc.3692G>A (p.Arg1231Gln)
c.999G>A
n.257G>A
c.4649G>A (p.Arg1550Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145703G>CCA6327268TBCEL-TECTA,TECTAc.3692G>C (p.Arg1231Pro)
c.999G>C
n.257G>C
c.4649G>C (p.Arg1550Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.121145703G=CA2004737496TBCEL-TECTA,TECTAc.3692G= (p.Arg1231=)
c.999G=
n.257G=
c.4649G= (p.Arg1550=)
11g.121145703G>TCA383021805TBCEL-TECTA,TECTAc.3692G>T (p.Arg1231Leu)
c.999G>T
n.257G>T
c.4649G>T (p.Arg1550Leu)
11g.121145704G>ACA477382793TBCEL-TECTA,TECTAc.3693G>A (p.Arg1231=)
c.1000G>A
n.258G>A
c.4650G>A (p.Arg1550=)
11g.121145704G>CCA477382790TBCEL-TECTA,TECTAc.3693G>C (p.Arg1231=)
c.1000G>C
n.258G>C
c.4650G>C (p.Arg1550=)
11g.121145704G>TCA477382792TBCEL-TECTA,TECTAc.3693G>T (p.Arg1231=)
c.1000G>T
n.258G>T
c.4650G>T (p.Arg1550=)
11g.121145705A=CA2004737497TBCEL-TECTA,TECTAc.3694A= (p.Ser1232=)
c.1001A=
n.259A=
c.4651A= (p.Ser1551=)
11g.121145705A>CCA383021807TBCEL-TECTA,TECTAc.3694A>C (p.Ser1232Arg)
c.1001A>C
n.259A>C
c.4651A>C (p.Ser1551Arg)
11g.121145705A>GCA6327270TBCEL-TECTA,TECTAc.3694A>G (p.Ser1232Gly)
c.1001A>G
n.259A>G
c.4651A>G (p.Ser1551Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145705A>TCA383021812TBCEL-TECTA,TECTAc.3694A>T (p.Ser1232Cys)
c.1001A>T
n.259A>T
c.4651A>T (p.Ser1551Cys)
11g.121145706G>ACA383021823TBCEL-TECTA,TECTAc.3695G>A (p.Ser1232Asn)
c.1002G>A
n.260G>A
c.4652G>A (p.Ser1551Asn)
 ClinVar
11g.121145706G>CCA383021816TBCEL-TECTA,TECTAc.3695G>C (p.Ser1232Thr)
c.1002G>C
n.260G>C
c.4652G>C (p.Ser1551Thr)
11g.121145706G=CA2004737498TBCEL-TECTA,TECTAc.3695G= (p.Ser1232=)
c.1002G=
n.260G=
c.4652G= (p.Ser1551=)
11g.121145706G>TCA383021820TBCEL-TECTA,TECTAc.3695G>T (p.Ser1232Ile)
c.1002G>T
n.260G>T
c.4652G>T (p.Ser1551Ile)
 dbSNP gnomAD v4
11g.121145707C>ACA383021827TBCEL-TECTA,TECTAc.3696C>A (p.Ser1232Arg)
c.1003C>A
n.261C>A
c.4653C>A (p.Ser1551Arg)
11g.121145707C>GCA383021829TBCEL-TECTA,TECTAc.3696C>G (p.Ser1232Arg)
c.1003C>G
n.261C>G
c.4653C>G (p.Ser1551Arg)
11g.121145707C>TCA477382797TBCEL-TECTA,TECTAc.3696C>T (p.Ser1232=)
c.1003C>T
n.261C>T
c.4653C>T (p.Ser1551=)
 gnomAD v4 COSMIC
11g.121145707_121145709delinsCATCA2004737499TBCEL-TECTA,TECTAc.3696_3698delinsCAT (p.Ser1232=)
c.1003_1005delinsCAT
n.261_263delinsCAT
c.4653_4655delinsCAT (p.Ser1551=)
11g.121145708A=CA2004737500TBCEL-TECTA,TECTAc.3697A= (p.Met1233=)
c.1004A=
n.262A=
c.4654A= (p.Met1552=)
11g.121145708A>CCA383021832TBCEL-TECTA,TECTAc.3697A>C (p.Met1233Leu)
c.1004A>C
n.262A>C
c.4654A>C (p.Met1552Leu)
11g.121145708A>GCA383021835TBCEL-TECTA,TECTAc.3697A>G (p.Met1233Val)
c.1004A>G
n.262A>G
c.4654A>G (p.Met1552Val)
 dbSNP gnomAD v4
11g.121145708A>TCA383021838TBCEL-TECTA,TECTAc.3697A>T (p.Met1233Leu)
c.1004A>T
n.262A>T
c.4654A>T (p.Met1552Leu)
11g.121145708_121145709delCA6327271TBCEL-TECTA,TECTAc.3697_3698del (p.Met1233AlafsTer16)
c.1004_1005del
n.262_263del
c.4654_4655del (p.Met1552AlafsTer16)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121145709T>ACA383021841TBCEL-TECTA,TECTAc.3698T>A (p.Met1233Lys)
c.1005T>A
n.263T>A
c.4655T>A (p.Met1552Lys)
11g.121145709T>CCA383021846TBCEL-TECTA,TECTAc.3698T>C (p.Met1233Thr)
c.1005T>C
n.263T>C
c.4655T>C (p.Met1552Thr)
 gnomAD v4
11g.121145709T>GCA229831279TBCEL-TECTA,TECTAc.3698T>G (p.Met1233Arg)
c.1005T>G
n.263T>G
c.4655T>G (p.Met1552Arg)
 dbSNP gnomAD v3 gnomAD v4
11g.121145709T=CA2004737501TBCEL-TECTA,TECTAc.3698T= (p.Met1233=)
c.1005T=
n.263T=
c.4655T= (p.Met1552=)
11g.121145710G>ACA383021851TBCEL-TECTA,TECTAc.3699G>A (p.Met1233Ile)
c.1006G>A
n.264G>A
c.4656G>A (p.Met1552Ile)
11g.121145710G>CCA383021854TBCEL-TECTA,TECTAc.3699G>C (p.Met1233Ile)
c.1006G>C
n.264G>C
c.4656G>C (p.Met1552Ile)
11g.121145710G>TCA383021855TBCEL-TECTA,TECTAc.3699G>T (p.Met1233Ile)
c.1006G>T
n.264G>T
c.4656G>T (p.Met1552Ile)
 gnomAD v4
11g.121145711C>ACA383021863TBCEL-TECTA,TECTAc.3700C>A (p.Gln1234Lys)
c.1007C>A
n.265C>A
c.4657C>A (p.Gln1553Lys)
11g.121145711C=CA2004737502TBCEL-TECTA,TECTAc.3700C= (p.Gln1234=)
c.1007C=
n.265C=
c.4657C= (p.Gln1553=)
11g.121145711C>GCA383021861TBCEL-TECTA,TECTAc.3700C>G (p.Gln1234Glu)
c.1007C>G
n.265C>G
c.4657C>G (p.Gln1553Glu)
11g.121145711C>TCA6327272TBCEL-TECTA,TECTAc.3700C>T (p.Gln1234Ter)
c.1007C>T
n.265C>T
c.4657C>T (p.Gln1553Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145712A>CCA383021865TBCEL-TECTA,TECTAc.3701A>C (p.Gln1234Pro)
c.1008A>C
n.266A>C
c.4658A>C (p.Gln1553Pro)
11g.121145712A>GCA383021867TBCEL-TECTA,TECTAc.3701A>G (p.Gln1234Arg)
c.1008A>G
n.266A>G
c.4658A>G (p.Gln1553Arg)
11g.121145712A>TCA383021869TBCEL-TECTA,TECTAc.3701A>T (p.Gln1234Leu)
c.1008A>T
n.266A>T
c.4658A>T (p.Gln1553Leu)
11g.121145713G>ACA477382803TBCEL-TECTA,TECTAc.3702G>A (p.Gln1234=)
c.1009G>A
n.267G>A
c.4659G>A (p.Gln1553=)
11g.121145713G>CCA383021874TBCEL-TECTA,TECTAc.3702G>C (p.Gln1234His)
c.1009G>C
n.267G>C
c.4659G>C (p.Gln1553His)
11g.121145713G>TCA383021876TBCEL-TECTA,TECTAc.3702G>T (p.Gln1234His)
c.1009G>T
n.267G>T
c.4659G>T (p.Gln1553His)
 COSMIC
11g.121145714A>CCA383021880TBCEL-TECTA,TECTAc.3703A>C (p.Asn1235His)
c.1010A>C
n.268A>C
c.4660A>C (p.Asn1554His)
11g.121145714A>GCA383021885TBCEL-TECTA,TECTAc.3703A>G (p.Asn1235Asp)
c.1010A>G
n.268A>G
c.4660A>G (p.Asn1554Asp)
11g.121145714A>TCA383021890TBCEL-TECTA,TECTAc.3703A>T (p.Asn1235Tyr)
c.1010A>T
n.268A>T
c.4660A>T (p.Asn1554Tyr)
11g.121145715A=CA2004737503TBCEL-TECTA,TECTAc.3704A= (p.Asn1235=)
c.1011A=
n.269A=
c.4661A= (p.Asn1554=)
11g.121145715A>CCA383021892TBCEL-TECTA,TECTAc.3704A>C (p.Asn1235Thr)
c.1011A>C
n.269A>C
c.4661A>C (p.Asn1554Thr)
11g.121145715A>GCA6327273TBCEL-TECTA,TECTAc.3704A>G (p.Asn1235Ser)
c.1011A>G
n.269A>G
c.4661A>G (p.Asn1554Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145715A>TCA383021896TBCEL-TECTA,TECTAc.3704A>T (p.Asn1235Ile)
c.1011A>T
n.269A>T
c.4661A>T (p.Asn1554Ile)
11g.121145716C>ACA383021897TBCEL-TECTA,TECTAc.3705C>A (p.Asn1235Lys)
c.1012C>A
n.270C>A
c.4662C>A (p.Asn1554Lys)
11g.121145716C>GCA383021898TBCEL-TECTA,TECTAc.3705C>G (p.Asn1235Lys)
c.1012C>G
n.270C>G
c.4662C>G (p.Asn1554Lys)
11g.121145716C>TCA477382809TBCEL-TECTA,TECTAc.3705C>T (p.Asn1235=)
c.1012C>T
n.270C>T
c.4662C>T (p.Asn1554=)
11g.121145717A>CCA383021900TBCEL-TECTA,TECTAc.3706A>C (p.Ser1236Arg)
c.1013A>C
n.271A>C
c.4663A>C (p.Ser1555Arg)
11g.121145717A>GCA383021902TBCEL-TECTA,TECTAc.3706A>G (p.Ser1236Gly)
c.1013A>G
n.271A>G
c.4663A>G (p.Ser1555Gly)
11g.121145717A>TCA383021899TBCEL-TECTA,TECTAc.3706A>T (p.Ser1236Cys)
c.1013A>T
n.271A>T
c.4663A>T (p.Ser1555Cys)
11g.121145718G>ACA383021905TBCEL-TECTA,TECTAc.3707G>A (p.Ser1236Asn)
c.1014G>A
n.272G>A
c.4664G>A (p.Ser1555Asn)
11g.121145718G>CCA383021911TBCEL-TECTA,TECTAc.3707G>C (p.Ser1236Thr)
c.1014G>C
n.272G>C
c.4664G>C (p.Ser1555Thr)
11g.121145718G=CA2004737504TBCEL-TECTA,TECTAc.3707G= (p.Ser1236=)
c.1014G=
n.272G=
c.4664G= (p.Ser1555=)
11g.121145718G>TCA383021907TBCEL-TECTA,TECTAc.3707G>T (p.Ser1236Ile)
c.1014G>T
n.272G>T
c.4664G>T (p.Ser1555Ile)
 dbSNP gnomAD v2 gnomAD v4
11g.121145719C>ACA383021914TBCEL-TECTA,TECTAc.3708C>A (p.Ser1236Arg)
c.1015C>A
n.273C>A
c.4665C>A (p.Ser1555Arg)
11g.121145719C>GCA383021916TBCEL-TECTA,TECTAc.3708C>G (p.Ser1236Arg)
c.1015C>G
n.273C>G
c.4665C>G (p.Ser1555Arg)
11g.121145719C>TCA477382812TBCEL-TECTA,TECTAc.3708C>T (p.Ser1236=)
c.1015C>T
n.273C>T
c.4665C>T (p.Ser1555=)
11g.121145720A=CA2004737505TBCEL-TECTA,TECTAc.3709A= (p.Thr1237=)
c.1016A=
n.274A=
c.4666A= (p.Thr1556=)
11g.121145720A>CCA383021920TBCEL-TECTA,TECTAc.3709A>C (p.Thr1237Pro)
c.1016A>C
n.274A>C
c.4666A>C (p.Thr1556Pro)
 dbSNP
11g.121145720A>GCA383021922TBCEL-TECTA,TECTAc.3709A>G (p.Thr1237Ala)
c.1016A>G
n.274A>G
c.4666A>G (p.Thr1556Ala)
11g.121145720A>TCA383021927TBCEL-TECTA,TECTAc.3709A>T (p.Thr1237Ser)
c.1016A>T
n.274A>T
c.4666A>T (p.Thr1556Ser)
11g.121145721C>ACA383021937TBCEL-TECTA,TECTAc.3710C>A (p.Thr1237Asn)
c.1017C>A
n.275C>A
c.4667C>A (p.Thr1556Asn)
11g.121145721C=CA2004737506TBCEL-TECTA,TECTAc.3710C= (p.Thr1237=)
c.1017C=
n.275C=
c.4667C= (p.Thr1556=)
11g.121145721C>GCA383021933TBCEL-TECTA,TECTAc.3710C>G (p.Thr1237Ser)
c.1017C>G
n.275C>G
c.4667C>G (p.Thr1556Ser)
11g.121145721C>TCA383021930TBCEL-TECTA,TECTAc.3710C>T (p.Thr1237Ile)
c.1017C>T
n.275C>T
c.4667C>T (p.Thr1556Ile)
 ClinVar dbSNP gnomAD v2
11g.121145722C>ACA477382814TBCEL-TECTA,TECTAc.3711C>A (p.Thr1237=)
c.1018C>A
n.276C>A
c.4668C>A (p.Thr1556=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121145722C=CA2004737507TBCEL-TECTA,TECTAc.3711C= (p.Thr1237=)
c.1018C=
n.276C=
c.4668C= (p.Thr1556=)
11g.121145722C>GCA477382815TBCEL-TECTA,TECTAc.3711C>G (p.Thr1237=)
c.1018C>G
n.276C>G
c.4668C>G (p.Thr1556=)
11g.121145722C>TCA477382816TBCEL-TECTA,TECTAc.3711C>T (p.Thr1237=)
c.1018C>T
n.276C>T
c.4668C>T (p.Thr1556=)
11g.121145723T>ACA383021941TBCEL-TECTA,TECTAc.3712T>A (p.Tyr1238Asn)
c.1019T>A
n.277T>A
c.4669T>A (p.Tyr1557Asn)
11g.121145723T>CCA383021944TBCEL-TECTA,TECTAc.3712T>C (p.Tyr1238His)
c.1019T>C
n.277T>C
c.4669T>C (p.Tyr1557His)
11g.121145723T>GCA383021947TBCEL-TECTA,TECTAc.3712T>G (p.Tyr1238Asp)
c.1019T>G
n.277T>G
c.4669T>G (p.Tyr1557Asp)
11g.121145724A=CA2004737508TBCEL-TECTA,TECTAc.3713A= (p.Tyr1238=)
c.1020A=
n.278A=
c.4670A= (p.Tyr1557=)
11g.121145724A>CCA383021950TBCEL-TECTA,TECTAc.3713A>C (p.Tyr1238Ser)
c.1020A>C
n.278A>C
c.4670A>C (p.Tyr1557Ser)
11g.121145724A>GCA6327274TBCEL-TECTA,TECTAc.3713A>G (p.Tyr1238Cys)
c.1020A>G
n.278A>G
c.4670A>G (p.Tyr1557Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145724A>TCA383021956TBCEL-TECTA,TECTAc.3713A>T (p.Tyr1238Phe)
c.1020A>T
n.278A>T
c.4670A>T (p.Tyr1557Phe)
11g.121145725T>ACA383021959TBCEL-TECTA,TECTAc.3714T>A (p.Tyr1238Ter)
c.1021T>A
n.279T>A
c.4671T>A (p.Tyr1557Ter)
11g.121145725T>CCA6327275TBCEL-TECTA,TECTAc.3714T>C (p.Tyr1238=)
c.1021T>C
n.279T>C
c.4671T>C (p.Tyr1557=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121145725T>GCA383021962TBCEL-TECTA,TECTAc.3714T>G (p.Tyr1238Ter)
c.1021T>G
n.279T>G
c.4671T>G (p.Tyr1557Ter)
11g.121145725T=CA2004737509TBCEL-TECTA,TECTAc.3714T= (p.Tyr1238=)
c.1021T=
n.279T=
c.4671T= (p.Tyr1557=)
11g.121145726G>ACA383021968TBCEL-TECTA,TECTAc.3715G>A (p.Gly1239Ser)
c.1022G>A
n.280G>A
c.4672G>A (p.Gly1558Ser)
11g.121145726G>CCA383021969TBCEL-TECTA,TECTAc.3715G>C (p.Gly1239Arg)
c.1022G>C
n.280G>C
c.4672G>C (p.Gly1558Arg)
11g.121145726G>TCA383021973TBCEL-TECTA,TECTAc.3715G>T (p.Gly1239Cys)
c.1022G>T
n.280G>T
c.4672G>T (p.Gly1558Cys)
11g.121145727G>ACA383021976TBCEL-TECTA,TECTAc.3716G>A (p.Gly1239Asp)
c.1023G>A
n.281G>A
c.4673G>A (p.Gly1558Asp)
 dbSNP gnomAD v2 gnomAD v4
11g.121145727G>CCA383021979TBCEL-TECTA,TECTAc.3716G>C (p.Gly1239Ala)
c.1023G>C
n.281G>C
c.4673G>C (p.Gly1558Ala)
11g.121145727G=CA2004737510TBCEL-TECTA,TECTAc.3716G= (p.Gly1239=)
c.1023G=
n.281G=
c.4673G= (p.Gly1558=)
11g.121145727G>TCA383021981TBCEL-TECTA,TECTAc.3716G>T (p.Gly1239Val)
c.1023G>T
n.281G>T
c.4673G>T (p.Gly1558Val)
11g.121145728T>ACA477382821TBCEL-TECTA,TECTAc.3717T>A (p.Gly1239=)
c.1024T>A
n.282T>A
c.4674T>A (p.Gly1558=)
11g.121145728T>CCA477382822TBCEL-TECTA,TECTAc.3717T>C (p.Gly1239=)
c.1024T>C
n.282T>C
c.4674T>C (p.Gly1558=)
 dbSNP gnomAD v3 gnomAD v4
11g.121145728T>GCA477382823TBCEL-TECTA,TECTAc.3717T>G (p.Gly1239=)
c.1024T>G
n.282T>G
c.4674T>G (p.Gly1558=)
11g.121145728T=CA2004737511TBCEL-TECTA,TECTAc.3717T= (p.Gly1239=)
c.1024T=
n.282T=
c.4674T= (p.Gly1558=)
11g.121145729C>ACA383021985TBCEL-TECTA,TECTAc.3718C>A (p.Leu1240Met)
c.1025C>A
n.283C>A
c.4675C>A (p.Leu1559Met)
11g.121145729C=CA2004737512TBCEL-TECTA,TECTAc.3718C= (p.Leu1240=)
c.1025C=
n.283C=
c.4675C= (p.Leu1559=)
11g.121145729C>GCA229831290TBCEL-TECTA,TECTAc.3718C>G (p.Leu1240Val)
c.1025C>G
n.283C>G
c.4675C>G (p.Leu1559Val)
 dbSNP
11g.121145729C>TCA477382826TBCEL-TECTA,TECTAc.3718C>T (p.Leu1240=)
c.1025C>T
n.283C>T
c.4675C>T (p.Leu1559=)
11g.121145730T>ACA383021991TBCEL-TECTA,TECTAc.3719T>A (p.Leu1240Gln)
c.1026T>A
n.284T>A
c.4676T>A (p.Leu1559Gln)
11g.121145730T>CCA383021993TBCEL-TECTA,TECTAc.3719T>C (p.Leu1240Pro)
c.1026T>C
n.284T>C
c.4676T>C (p.Leu1559Pro)
11g.121145730T>GCA383021997TBCEL-TECTA,TECTAc.3719T>G (p.Leu1240Arg)
c.1026T>G
n.284T>G
c.4676T>G (p.Leu1559Arg)
11g.121145731G>ACA477382828TBCEL-TECTA,TECTAc.3720G>A (p.Leu1240=)
c.1027G>A
n.285G>A
c.4677G>A (p.Leu1559=)
11g.121145731G>CCA477382829TBCEL-TECTA,TECTAc.3720G>C (p.Leu1240=)
c.1027G>C
n.285G>C
c.4677G>C (p.Leu1559=)
11g.121145731G>TCA477382830TBCEL-TECTA,TECTAc.3720G>T (p.Leu1240=)
c.1027G>T
n.285G>T
c.4677G>T (p.Leu1559=)
11g.121145732T>ACA383022000TBCEL-TECTA,TECTAc.3721T>A (p.Cys1241Ser)
c.1028T>A
n.286T>A
c.4678T>A (p.Cys1560Ser)
11g.121145732T>CCA383022006TBCEL-TECTA,TECTAc.3721T>C (p.Cys1241Arg)
c.1028T>C
n.286T>C
c.4678T>C (p.Cys1560Arg)
11g.121145732T>GCA383022002TBCEL-TECTA,TECTAc.3721T>G (p.Cys1241Gly)
c.1028T>G
n.286T>G
c.4678T>G (p.Cys1560Gly)
 dbSNP
11g.121145732T=CA2004737513TBCEL-TECTA,TECTAc.3721T= (p.Cys1241=)
c.1028T=
n.286T=
c.4678T= (p.Cys1560=)
11g.121145733G>ACA6327276TBCEL-TECTA,TECTAc.3722G>A (p.Cys1241Tyr)
c.1029G>A
n.287G>A
c.4679G>A (p.Cys1560Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121145733G>CCA383022016TBCEL-TECTA,TECTAc.3722G>C (p.Cys1241Ser)
c.1029G>C
n.287G>C
c.4679G>C (p.Cys1560Ser)
11g.121145733G=CA2004737514TBCEL-TECTA,TECTAc.3722G= (p.Cys1241=)
c.1029G=
n.287G=
c.4679G= (p.Cys1560=)
11g.121145733G>TCA383022018TBCEL-TECTA,TECTAc.3722G>T (p.Cys1241Phe)
c.1029G>T
n.287G>T
c.4679G>T (p.Cys1560Phe)
11g.121145734T>ACA383022020TBCEL-TECTA,TECTAc.3723T>A (p.Cys1241Ter)
c.1030T>A
n.288T>A
c.4680T>A (p.Cys1560Ter)
11g.121145734T>CCA477382832TBCEL-TECTA,TECTAc.3723T>C (p.Cys1241=)
c.1030T>C
n.288T>C
c.4680T>C (p.Cys1560=)
11g.121145734T>GCA383022022TBCEL-TECTA,TECTAc.3723T>G (p.Cys1241Trp)
c.1030T>G
n.288T>G
c.4680T>G (p.Cys1560Trp)
 dbSNP gnomAD v3 gnomAD v4
11g.121145734T=CA2004737515TBCEL-TECTA,TECTAc.3723T= (p.Cys1241=)
c.1030T=
n.288T=
c.4680T= (p.Cys1560=)
11g.121145735G>ACA383022028TBCEL-TECTA,TECTAc.3724G>A (p.Gly1242Ser)
c.1031G>A
n.289G>A
c.4681G>A (p.Gly1561Ser)
 COSMIC
11g.121145735G>CCA383022030TBCEL-TECTA,TECTAc.3724G>C (p.Gly1242Arg)
c.1031G>C
n.289G>C
c.4681G>C (p.Gly1561Arg)
11g.121145735G>TCA383022034TBCEL-TECTA,TECTAc.3724G>T (p.Gly1242Cys)
c.1031G>T
n.289G>T
c.4681G>T (p.Gly1561Cys)
11g.121145736G>ACA383022035TBCEL-TECTA,TECTAc.3725G>A (p.Gly1242Asp)
c.1032G>A
n.290G>A
c.4682G>A (p.Gly1561Asp)
 gnomAD v4
11g.121145736G>CCA6327277TBCEL-TECTA,TECTAc.3725G>C (p.Gly1242Ala)
c.1032G>C
n.290G>C
c.4682G>C (p.Gly1561Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121145736G=CA2004737516TBCEL-TECTA,TECTAc.3725G= (p.Gly1242=)
c.1032G=
n.290G=
c.4682G= (p.Gly1561=)
11g.121145736G>TCA383022038TBCEL-TECTA,TECTAc.3725G>T (p.Gly1242Val)
c.1032G>T
n.290G>T
c.4682G>T (p.Gly1561Val)
11g.121145737C>ACA477382836TBCEL-TECTA,TECTAc.3726C>A (p.Gly1242=)
c.1033C>A
n.291C>A
c.4683C>A (p.Gly1561=)
11g.121145737C>GCA477382838TBCEL-TECTA,TECTAc.3726C>G (p.Gly1242=)
c.1033C>G
n.291C>G
c.4683C>G (p.Gly1561=)
11g.121145737C>TCA477382837TBCEL-TECTA,TECTAc.3726C>T (p.Gly1242=)
c.1033C>T
n.291C>T
c.4683C>T (p.Gly1561=)
11g.121145738C>ACA383022047TBCEL-TECTA,TECTAc.3727C>A (p.Arg1243Ser)
c.1034C>A
n.292C>A
c.4684C>A (p.Arg1562Ser)
11g.121145738C=CA2004737517TBCEL-TECTA,TECTAc.3727C= (p.Arg1243=)
c.1034C=
n.292C=
c.4684C= (p.Arg1562=)
11g.121145738C>GCA383022042TBCEL-TECTA,TECTAc.3727C>G (p.Arg1243Gly)
c.1034C>G
n.292C>G
c.4684C>G (p.Arg1562Gly)
11g.121145738C>TCA6327278TBCEL-TECTA,TECTAc.3727C>T (p.Arg1243Cys)
c.1034C>T
n.292C>T
c.4684C>T (p.Arg1562Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.121145739G>ACA6327279TBCEL-TECTA,TECTAc.3728G>A (p.Arg1243His)
c.1035G>A
n.293G>A
c.4685G>A (p.Arg1562His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.121145739G>CCA383022052TBCEL-TECTA,TECTAc.3728G>C (p.Arg1243Pro)
c.1035G>C
n.293G>C
c.4685G>C (p.Arg1562Pro)
11g.121145739G=CA2004737518TBCEL-TECTA,TECTAc.3728G= (p.Arg1243=)
c.1035G=
n.293G=
c.4685G= (p.Arg1562=)
11g.121145739G>TCA383022055TBCEL-TECTA,TECTAc.3728G>T (p.Arg1243Leu)
c.1035G>T
n.293G>T
c.4685G>T (p.Arg1562Leu)
11g.121145740C>ACA477382840TBCEL-TECTA,TECTAc.3729C>A (p.Arg1243=)
c.1036C>A
n.294C>A
c.4686C>A (p.Arg1562=)
11g.121145740C>GCA477382842TBCEL-TECTA,TECTAc.3729C>G (p.Arg1243=)
c.1036C>G
n.294C>G
c.4686C>G (p.Arg1562=)
11g.121145740C>TCA477382844TBCEL-TECTA,TECTAc.3729C>T (p.Arg1243=)
c.1036C>T
n.294C>T
c.4686C>T (p.Arg1562=)
11g.121145741T>ACA383022058TBCEL-TECTA,TECTAc.3730T>A (p.Tyr1244Asn)
c.1037T>A
n.295T>A
c.4687T>A (p.Tyr1563Asn)
11g.121145741T>CCA383022061TBCEL-TECTA,TECTAc.3730T>C (p.Tyr1244His)
c.1037T>C
n.295T>C
c.4687T>C (p.Tyr1563His)
11g.121145741T>GCA383022062TBCEL-TECTA,TECTAc.3730T>G (p.Tyr1244Asp)
c.1037T>G
n.295T>G
c.4687T>G (p.Tyr1563Asp)
 gnomAD v4
11g.121145742A=CA2004737519TBCEL-TECTA,TECTAc.3731A= (p.Tyr1244=)
c.1038A=
n.296A=
c.4688A= (p.Tyr1563=)
11g.121145742A>CCA383022067TBCEL-TECTA,TECTAc.3731A>C (p.Tyr1244Ser)
c.1038A>C
n.296A>C
c.4688A>C (p.Tyr1563Ser)
11g.121145742A>GCA383022070TBCEL-TECTA,TECTAc.3731A>G (p.Tyr1244Cys)
c.1038A>G
n.296A>G
c.4688A>G (p.Tyr1563Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.121145742A>TCA383022074TBCEL-TECTA,TECTAc.3731A>T (p.Tyr1244Phe)
c.1038A>T
n.296A>T
c.4688A>T (p.Tyr1563Phe)
11g.121145743C>ACA383022076TBCEL-TECTA,TECTAc.3732C>A (p.Tyr1244Ter)
c.1039C>A
n.297C>A
c.4689C>A (p.Tyr1563Ter)
11g.121145743C=CA2004737520TBCEL-TECTA,TECTAc.3732C= (p.Tyr1244=)
c.1039C=
n.297C=
c.4689C= (p.Tyr1563=)
11g.121145743C>GCA383022081TBCEL-TECTA,TECTAc.3732C>G (p.Tyr1244Ter)
c.1039C>G
n.297C>G
c.4689C>G (p.Tyr1563Ter)
11g.121145743C>TCA477382846TBCEL-TECTA,TECTAc.3732C>T (p.Tyr1244=)
c.1039C>T
n.297C>T
c.4689C>T (p.Tyr1563=)
 dbSNP gnomAD v2 gnomAD v4
11g.121145744A>CCA383022088TBCEL-TECTA,TECTAc.3733A>C (p.Asn1245His)
c.1040A>C
n.298A>C
c.4690A>C (p.Asn1564His)
11g.121145744A>GCA383022090TBCEL-TECTA,TECTAc.3733A>G (p.Asn1245Asp)
c.1040A>G
n.298A>G
c.4690A>G (p.Asn1564Asp)
11g.121145744A>TCA383022084TBCEL-TECTA,TECTAc.3733A>T (p.Asn1245Tyr)
c.1040A>T
n.298A>T
c.4690A>T (p.Asn1564Tyr)
11g.121145745A=CA2004737521TBCEL-TECTA,TECTAc.3734A= (p.Asn1245=)
c.1041A=
n.299A=
c.4691A= (p.Asn1564=)
11g.121145745A>CCA383022095TBCEL-TECTA,TECTAc.3734A>C (p.Asn1245Thr)
c.1041A>C
n.299A>C
c.4691A>C (p.Asn1564Thr)
 dbSNP gnomAD v3 gnomAD v4
11g.121145745A>GCA6327280TBCEL-TECTA,TECTAc.3734A>G (p.Asn1245Ser)
c.1041A>G
n.299A>G
c.4691A>G (p.Asn1564Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.121145745A>TCA383022097TBCEL-TECTA,TECTAc.3734A>T (p.Asn1245Ile)
c.1041A>T
n.299A>T
c.4691A>T (p.Asn1564Ile)
11g.121145746C>ACA383022101TBCEL-TECTA,TECTAc.3735C>A (p.Asn1245Lys)
c.1042C>A
n.300C>A
c.4692C>A (p.Asn1564Lys)
11g.121145746C=CA2004737522TBCEL-TECTA,TECTAc.3735C= (p.Asn1245=)
c.1042C=
n.300C=
c.4692C= (p.Asn1564=)
11g.121145746C>GCA383022104TBCEL-TECTA,TECTAc.3735C>G (p.Asn1245Lys)
c.1042C>G
n.300C>G
c.4692C>G (p.Asn1564Lys)
 gnomAD v4
11g.121145746C>TCA6327281TBCEL-TECTA,TECTAc.3735C>T (p.Asn1245=)
c.1042C>T
n.300C>T
c.4692C>T (p.Asn1564=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145747G>ACA6327282TBCEL-TECTA,TECTAc.3736G>A (p.Gly1246Ser)
c.1043G>A
n.301G>A
c.4693G>A (p.Gly1565Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145747G>CCA383022107TBCEL-TECTA,TECTAc.3736G>C (p.Gly1246Arg)
c.1043G>C
n.301G>C
c.4693G>C (p.Gly1565Arg)
11g.121145747G=CA2004737523TBCEL-TECTA,TECTAc.3736G= (p.Gly1246=)
c.1043G=
n.301G=
c.4693G= (p.Gly1565=)
11g.121145747G>TCA383022108TBCEL-TECTA,TECTAc.3736G>T (p.Gly1246Cys)
c.1043G>T
n.301G>T
c.4693G>T (p.Gly1565Cys)
11g.121145748G>ACA383022109TBCEL-TECTA,TECTAc.3737G>A (p.Gly1246Asp)
c.1044G>A
n.302G>A
c.4694G>A (p.Gly1565Asp)
 gnomAD v4
11g.121145748G>CCA383022111TBCEL-TECTA,TECTAc.3737G>C (p.Gly1246Ala)
c.1044G>C
n.302G>C
c.4694G>C (p.Gly1565Ala)
11g.121145748G>TCA383022113TBCEL-TECTA,TECTAc.3737G>T (p.Gly1246Val)
c.1044G>T
n.302G>T
c.4694G>T (p.Gly1565Val)
11g.121145749C>ACA477382848TBCEL-TECTA,TECTAc.3738C>A (p.Gly1246=)
c.1045C>A
n.303C>A
c.4695C>A (p.Gly1565=)
11g.121145749C>GCA477382849TBCEL-TECTA,TECTAc.3738C>G (p.Gly1246=)
c.1045C>G
n.303C>G
c.4695C>G (p.Gly1565=)
11g.121145749C>TCA477382847TBCEL-TECTA,TECTAc.3738C>T (p.Gly1246=)
c.1045C>T
n.303C>T
c.4695C>T (p.Gly1565=)
11g.121145750A=CA2004737524TBCEL-TECTA,TECTAc.3739A= (p.Asn1247=)
c.1046A=
n.304A=
c.4696A= (p.Asn1566=)
11g.121145750A>CCA6327283TBCEL-TECTA,TECTAc.3739A>C (p.Asn1247His)
c.1046A>C
n.304A>C
c.4696A>C (p.Asn1566His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145750A>GCA383022122TBCEL-TECTA,TECTAc.3739A>G (p.Asn1247Asp)
c.1046A>G
n.304A>G
c.4696A>G (p.Asn1566Asp)
11g.121145750A>TCA383022118TBCEL-TECTA,TECTAc.3739A>T (p.Asn1247Tyr)
c.1046A>T
n.304A>T
c.4696A>T (p.Asn1566Tyr)
11g.121145751A>CCA383022127TBCEL-TECTA,TECTAc.3740A>C (p.Asn1247Thr)
c.1047A>C
n.305A>C
c.4697A>C (p.Asn1566Thr)
11g.121145751A>GCA383022130TBCEL-TECTA,TECTAc.3740A>G (p.Asn1247Ser)
c.1047A>G
n.305A>G
c.4697A>G (p.Asn1566Ser)
11g.121145751A>TCA383022131TBCEL-TECTA,TECTAc.3740A>T (p.Asn1247Ile)
c.1047A>T
n.305A>T
c.4697A>T (p.Asn1566Ile)
11g.121145751_121145752delinsACCA2004737525TBCEL-TECTA,TECTAc.3740_3741delinsAC (p.Asn1247=)
c.1047_1048delinsAC
n.305_306delinsAC
c.4697_4698delinsAC (p.Asn1566=)
11g.121145752C>ACA383022132TBCEL-TECTA,TECTAc.3741C>A (p.Asn1247Lys)
c.1048C>A
n.306C>A
c.4698C>A (p.Asn1566Lys)
 dbSNP gnomAD v2 gnomAD v4
11g.121145752C=CA2004737526TBCEL-TECTA,TECTAc.3741C= (p.Asn1247=)
c.1048C=
n.306C=
c.4698C= (p.Asn1566=)
11g.121145752C>GCA383022133TBCEL-TECTA,TECTAc.3741C>G (p.Asn1247Lys)
c.1048C>G
n.306C>G
c.4698C>G (p.Asn1566Lys)
 dbSNP
11g.121145752C>TCA477382850TBCEL-TECTA,TECTAc.3741C>T (p.Asn1247=)
c.1048C>T
n.306C>T
c.4698C>T (p.Asn1566=)
11g.121145754delCA477382851TBCEL-TECTA,TECTAc.3743del (p.Pro1248LeufsTer24)
c.1050del
n.308del
c.4700del (p.Pro1567LeufsTer24)
 dbSNP gnomAD v4
11g.121145753C>ACA383022136TBCEL-TECTA,TECTAc.3742C>A (p.Pro1248Thr)
c.1049C>A
n.307C>A
c.4699C>A (p.Pro1567Thr)
11g.121145753C=CA2004737527TBCEL-TECTA,TECTAc.3742C= (p.Pro1248=)
c.1049C=
n.307C=
c.4699C= (p.Pro1567=)
11g.121145753C>GCA383022137TBCEL-TECTA,TECTAc.3742C>G (p.Pro1248Ala)
c.1049C>G
n.307C>G
c.4699C>G (p.Pro1567Ala)
11g.121145753C>TCA6327284TBCEL-TECTA,TECTAc.3742C>T (p.Pro1248Ser)
c.1049C>T
n.307C>T
c.4699C>T (p.Pro1567Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145754C>ACA383022144TBCEL-TECTA,TECTAc.3743C>A (p.Pro1248His)
c.1050C>A
n.308C>A
c.4700C>A (p.Pro1567His)
11g.121145754C=CA2004737528TBCEL-TECTA,TECTAc.3743C= (p.Pro1248=)
c.1050C=
n.308C=
c.4700C= (p.Pro1567=)
11g.121145754C>GCA383022146TBCEL-TECTA,TECTAc.3743C>G (p.Pro1248Arg)
c.1050C>G
n.308C>G
c.4700C>G (p.Pro1567Arg)
11g.121145754C>TCA6327285TBCEL-TECTA,TECTAc.3743C>T (p.Pro1248Leu)
c.1050C>T
n.308C>T
c.4700C>T (p.Pro1567Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145755T>ACA477382852TBCEL-TECTA,TECTAc.3744T>A (p.Pro1248=)
c.1051T>A
n.309T>A
c.4701T>A (p.Pro1567=)
11g.121145755T>CCA477382853TBCEL-TECTA,TECTAc.3744T>C (p.Pro1248=)
c.1051T>C
n.309T>C
c.4701T>C (p.Pro1567=)
11g.121145755T>GCA477382854TBCEL-TECTA,TECTAc.3744T>G (p.Pro1248=)
c.1051T>G
n.309T>G
c.4701T>G (p.Pro1567=)
11g.121145756G>ACA383022152TBCEL-TECTA,TECTAc.3745G>A (p.Asp1249Asn)
c.1052G>A
n.310G>A
c.4702G>A (p.Asp1568Asn)
 gnomAD v4
11g.121145756G>CCA383022155TBCEL-TECTA,TECTAc.3745G>C (p.Asp1249His)
c.1052G>C
n.310G>C
c.4702G>C (p.Asp1568His)
11g.121145756G>TCA383022156TBCEL-TECTA,TECTAc.3745G>T (p.Asp1249Tyr)
c.1052G>T
n.310G>T
c.4702G>T (p.Asp1568Tyr)
11g.121145757A>CCA383022163TBCEL-TECTA,TECTAc.3746A>C (p.Asp1249Ala)
c.1053A>C
n.311A>C
c.4703A>C (p.Asp1568Ala)
11g.121145757A>GCA383022165TBCEL-TECTA,TECTAc.3746A>G (p.Asp1249Gly)
c.1053A>G
n.311A>G
c.4703A>G (p.Asp1568Gly)
11g.121145757A>TCA383022160TBCEL-TECTA,TECTAc.3746A>T (p.Asp1249Val)
c.1053A>T
n.311A>T
c.4703A>T (p.Asp1568Val)
 gnomAD v4
11g.121145758T>ACA383022169TBCEL-TECTA,TECTAc.3747T>A (p.Asp1249Glu)
c.1054T>A
n.312T>A
c.4704T>A (p.Asp1568Glu)
11g.121145758T>CCA477382855TBCEL-TECTA,TECTAc.3747T>C (p.Asp1249=)
c.1054T>C
n.312T>C
c.4704T>C (p.Asp1568=)
 gnomAD v4
11g.121145758T>GCA383022171TBCEL-TECTA,TECTAc.3747T>G (p.Asp1249Glu)
c.1054T>G
n.312T>G
c.4704T>G (p.Asp1568Glu)
11g.121145759G>ACA383022176TBCEL-TECTA,TECTAc.3748G>A (p.Asp1250Asn)
c.1055G>A
n.313G>A
c.4705G>A (p.Asp1569Asn)
11g.121145759G>CCA6327286TBCEL-TECTA,TECTAc.3748G>C (p.Asp1250His)
c.1055G>C
n.313G>C
c.4705G>C (p.Asp1569His)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121145759G=CA2004737529TBCEL-TECTA,TECTAc.3748G= (p.Asp1250=)
c.1055G=
n.313G=
c.4705G= (p.Asp1569=)
11g.121145759G>TCA383022179TBCEL-TECTA,TECTAc.3748G>T (p.Asp1250Tyr)
c.1055G>T
n.313G>T
c.4705G>T (p.Asp1569Tyr)
 gnomAD v4
11g.121145760A>CCA383022188TBCEL-TECTA,TECTAc.3749A>C (p.Asp1250Ala)
c.1056A>C
n.314A>C
c.4706A>C (p.Asp1569Ala)
11g.121145760A>GCA383022185TBCEL-TECTA,TECTAc.3749A>G (p.Asp1250Gly)
c.1056A>G
n.314A>G
c.4706A>G (p.Asp1569Gly)
11g.121145760A>TCA383022183TBCEL-TECTA,TECTAc.3749A>T (p.Asp1250Val)
c.1056A>T
n.314A>T
c.4706A>T (p.Asp1569Val)
11g.121145761T>ACA383022189TBCEL-TECTA,TECTAc.3750T>A (p.Asp1250Glu)
c.1057T>A
n.315T>A
c.4707T>A (p.Asp1569Glu)
 gnomAD v4
11g.121145761T>CCA6327287TBCEL-TECTA,TECTAc.3750T>C (p.Asp1250=)
c.1057T>C
n.315T>C
c.4707T>C (p.Asp1569=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145761T>GCA383022190TBCEL-TECTA,TECTAc.3750T>G (p.Asp1250Glu)
c.1057T>G
n.315T>G
c.4707T>G (p.Asp1569Glu)
11g.121145761T=CA2004737530TBCEL-TECTA,TECTAc.3750T= (p.Asp1250=)
c.1057T=
n.315T=
c.4707T= (p.Asp1569=)
11g.121145762G>ACA383022191TBCEL-TECTA,TECTAc.3751G>A (p.Asp1251Asn)
c.1058G>A
n.316G>A
c.4708G>A (p.Asp1570Asn)
11g.121145762G>CCA383022192TBCEL-TECTA,TECTAc.3751G>C (p.Asp1251His)
c.1058G>C
n.316G>C
c.4708G>C (p.Asp1570His)
11g.121145762G>TCA383022193TBCEL-TECTA,TECTAc.3751G>T (p.Asp1251Tyr)
c.1058G>T
n.316G>T
c.4708G>T (p.Asp1570Tyr)
11g.121145763A>CCA383022195TBCEL-TECTA,TECTAc.3752A>C (p.Asp1251Ala)
c.1059A>C
n.317A>C
c.4709A>C (p.Asp1570Ala)
11g.121145763A>GCA383022202TBCEL-TECTA,TECTAc.3752A>G (p.Asp1251Gly)
c.1059A>G
n.317A>G
c.4709A>G (p.Asp1570Gly)
 COSMIC
11g.121145763A>TCA383022197TBCEL-TECTA,TECTAc.3752A>T (p.Asp1251Val)
c.1059A>T
n.317A>T
c.4709A>T (p.Asp1570Val)
 gnomAD v4
11g.121145764C>ACA383022205TBCEL-TECTA,TECTAc.3753C>A (p.Asp1251Glu)
c.1060C>A
n.318C>A
c.4710C>A (p.Asp1570Glu)
11g.121145764C=CA2004737531TBCEL-TECTA,TECTAc.3753C= (p.Asp1251=)
c.1060C=
n.318C=
c.4710C= (p.Asp1570=)
11g.121145764C>GCA383022208TBCEL-TECTA,TECTAc.3753C>G (p.Asp1251Glu)
c.1060C>G
n.318C>G
c.4710C>G (p.Asp1570Glu)
11g.121145764C>TCA477382856TBCEL-TECTA,TECTAc.3753C>T (p.Asp1251=)
c.1060C>T
n.318C>T
c.4710C>T (p.Asp1570=)
 dbSNP gnomAD v2 gnomAD v4
11g.121145765C>ACA383022211TBCEL-TECTA,TECTAc.3754C>A (p.Leu1252Met)
c.1061C>A
n.319C>A
c.4711C>A (p.Leu1571Met)
11g.121145765C>GCA383022212TBCEL-TECTA,TECTAc.3754C>G (p.Leu1252Val)
c.1061C>G
n.319C>G
c.4711C>G (p.Leu1571Val)
11g.121145765C>TCA477382857TBCEL-TECTA,TECTAc.3754C>T (p.Leu1252=)
c.1061C>T
n.319C>T
c.4711C>T (p.Leu1571=)
11g.121145766T>ACA383022213TBCEL-TECTA,TECTAc.3755T>A (p.Leu1252Gln)
c.1062T>A
n.320T>A
c.4712T>A (p.Leu1571Gln)
 gnomAD v4
11g.121145766T>CCA383022214TBCEL-TECTA,TECTAc.3755T>C (p.Leu1252Pro)
c.1062T>C
n.320T>C
c.4712T>C (p.Leu1571Pro)
 gnomAD v4
11g.121145766T>GCA383022215TBCEL-TECTA,TECTAc.3755T>G (p.Leu1252Arg)
c.1062T>G
n.320T>G
c.4712T>G (p.Leu1571Arg)
11g.121145767G>ACA477382858TBCEL-TECTA,TECTAc.3756G>A (p.Leu1252=)
c.1063G>A
n.321G>A
c.4713G>A (p.Leu1571=)
11g.121145767G>CCA477382859TBCEL-TECTA,TECTAc.3756G>C (p.Leu1252=)
c.1063G>C
n.321G>C
c.4713G>C (p.Leu1571=)
11g.121145767G>TCA477382860TBCEL-TECTA,TECTAc.3756G>T (p.Leu1252=)
c.1063G>T
n.321G>T
c.4713G>T (p.Leu1571=)
11g.121145768G>ACA383022216TBCEL-TECTA,TECTAc.3757G>A (p.Glu1253Lys)
c.1064G>A
n.322G>A
c.4714G>A (p.Glu1572Lys)
11g.121145768G>CCA383022218TBCEL-TECTA,TECTAc.3757G>C (p.Glu1253Gln)
c.1064G>C
n.322G>C
c.4714G>C (p.Glu1572Gln)
 COSMIC
11g.121145768G>TCA383022221TBCEL-TECTA,TECTAc.3757G>T (p.Glu1253Ter)
c.1064G>T
n.322G>T
c.4714G>T (p.Glu1572Ter)
11g.121145769A>CCA383022234TBCEL-TECTA,TECTAc.3758A>C (p.Glu1253Ala)
c.1065A>C
n.323A>C
c.4715A>C (p.Glu1572Ala)
11g.121145769A>GCA383022230TBCEL-TECTA,TECTAc.3758A>G (p.Glu1253Gly)
c.1065A>G
n.323A>G
c.4715A>G (p.Glu1572Gly)
11g.121145769A>TCA383022228TBCEL-TECTA,TECTAc.3758A>T (p.Glu1253Val)
c.1065A>T
n.323A>T
c.4715A>T (p.Glu1572Val)
11g.121145770G>ACA477382861TBCEL-TECTA,TECTAc.3759G>A (p.Glu1253=)
c.1066G>A
n.324G>A
c.4716G>A (p.Glu1572=)
11g.121145770G>CCA383022237TBCEL-TECTA,TECTAc.3759G>C (p.Glu1253Asp)
c.1066G>C
n.324G>C
c.4716G>C (p.Glu1572Asp)
11g.121145770G>TCA383022240TBCEL-TECTA,TECTAc.3759G>T (p.Glu1253Asp)
c.1066G>T
n.324G>T
c.4716G>T (p.Glu1572Asp)
 COSMIC
11g.121145771A=CA2004737532TBCEL-TECTA,TECTAc.3760A= (p.Met1254=)
c.1067A=
n.325A=
c.4717A= (p.Met1573=)
11g.121145771A>CCA383022246TBCEL-TECTA,TECTAc.3760A>C (p.Met1254Leu)
c.1067A>C
n.325A>C
c.4717A>C (p.Met1573Leu)
 gnomAD v4
11g.121145771A>GCA10637529TBCEL-TECTA,TECTAc.3760A>G (p.Met1254Val)
c.1067A>G
n.325A>G
c.4717A>G (p.Met1573Val)
 ClinVar dbSNP
11g.121145771A>TCA383022248TBCEL-TECTA,TECTAc.3760A>T (p.Met1254Leu)
c.1067A>T
n.325A>T
c.4717A>T (p.Met1573Leu)
11g.121145772T>ACA383022252TBCEL-TECTA,TECTAc.3761T>A (p.Met1254Lys)
c.1068T>A
n.326T>A
c.4718T>A (p.Met1573Lys)
11g.121145772T>CCA383022254TBCEL-TECTA,TECTAc.3761T>C (p.Met1254Thr)
c.1068T>C
n.326T>C
c.4718T>C (p.Met1573Thr)
 gnomAD v4
11g.121145772T>GCA383022257TBCEL-TECTA,TECTAc.3761T>G (p.Met1254Arg)
c.1068T>G
n.326T>G
c.4718T>G (p.Met1573Arg)
11g.121145773G>ACA10638056TBCEL-TECTA,TECTAc.3762G>A (p.Met1254Ile)
c.1069G>A
n.327G>A
c.4719G>A (p.Met1573Ile)
 ClinVar dbSNP
11g.121145773G>CCA383022264TBCEL-TECTA,TECTAc.3762G>C (p.Met1254Ile)
c.1069G>C
n.327G>C
c.4719G>C (p.Met1573Ile)
11g.121145773G=CA2004737533TBCEL-TECTA,TECTAc.3762G= (p.Met1254=)
c.1069G=
n.327G=
c.4719G= (p.Met1573=)
11g.121145773G>TCA383022271TBCEL-TECTA,TECTAc.3762G>T (p.Met1254Ile)
c.1069G>T
n.327G>T
c.4719G>T (p.Met1573Ile)
11g.121145774C>ACA383022273TBCEL-TECTA,TECTAc.3763C>A (p.Pro1255Thr)
c.1070C>A
n.328C>A
c.4720C>A (p.Pro1574Thr)
11g.121145774C=CA2004737534TBCEL-TECTA,TECTAc.3763C= (p.Pro1255=)
c.1070C=
n.328C=
c.4720C= (p.Pro1574=)
11g.121145774C>GCA383022275TBCEL-TECTA,TECTAc.3763C>G (p.Pro1255Ala)
c.1070C>G
n.328C>G
c.4720C>G (p.Pro1574Ala)
11g.121145774C>TCA383022277TBCEL-TECTA,TECTAc.3763C>T (p.Pro1255Ser)
c.1070C>T
n.328C>T
c.4720C>T (p.Pro1574Ser)
 dbSNP gnomAD v2
11g.121145775C>ACA383022280TBCEL-TECTA,TECTAc.3764C>A (p.Pro1255His)
c.1071C>A
n.329C>A
c.4721C>A (p.Pro1574His)
11g.121145775C>GCA383022283TBCEL-TECTA,TECTAc.3764C>G (p.Pro1255Arg)
c.1071C>G
n.329C>G
c.4721C>G (p.Pro1574Arg)
11g.121145775C>TCA383022287TBCEL-TECTA,TECTAc.3764C>T (p.Pro1255Leu)
c.1071C>T
n.329C>T
c.4721C>T (p.Pro1574Leu)
 gnomAD v4
11g.121145776C>ACA477382862TBCEL-TECTA,TECTAc.3765C>A (p.Pro1255=)
c.1072C>A
n.330C>A
c.4722C>A (p.Pro1574=)
11g.121145776C>GCA477382863TBCEL-TECTA,TECTAc.3765C>G (p.Pro1255=)
c.1072C>G
n.330C>G
c.4722C>G (p.Pro1574=)
11g.121145776C>TCA477382864TBCEL-TECTA,TECTAc.3765C>T (p.Pro1255=)
c.1072C>T
n.330C>T
c.4722C>T (p.Pro1574=)
11g.121145777A=CA2004737535TBCEL-TECTA,TECTAc.3766A= (p.Met1256=)
c.1073A=
n.331A=
c.4723A= (p.Met1575=)
11g.121145777A>CCA383022295TBCEL-TECTA,TECTAc.3766A>C (p.Met1256Leu)
c.1073A>C
n.331A>C
c.4723A>C (p.Met1575Leu)
11g.121145777A>GCA229831455TBCEL-TECTA,TECTAc.3766A>G (p.Met1256Val)
c.1073A>G
n.331A>G
c.4723A>G (p.Met1575Val)
 dbSNP gnomAD v4
11g.121145777A>TCA383022293TBCEL-TECTA,TECTAc.3766A>T (p.Met1256Leu)
c.1073A>T
n.331A>T
c.4723A>T (p.Met1575Leu)
11g.121145778T>ACA383022297TBCEL-TECTA,TECTAc.3767T>A (p.Met1256Lys)
c.1074T>A
n.332T>A
c.4724T>A (p.Met1575Lys)
 dbSNP gnomAD v3 gnomAD v4
11g.121145778T>CCA383022298TBCEL-TECTA,TECTAc.3767T>C (p.Met1256Thr)
c.1074T>C
n.332T>C
c.4724T>C (p.Met1575Thr)
11g.121145778T>GCA383022301TBCEL-TECTA,TECTAc.3767T>G (p.Met1256Arg)
c.1074T>G
n.332T>G
c.4724T>G (p.Met1575Arg)
11g.121145778T=CA2004737536TBCEL-TECTA,TECTAc.3767T= (p.Met1256=)
c.1074T=
n.332T=
c.4724T= (p.Met1575=)
11g.121145779G>ACA383022304TBCEL-TECTA,TECTAc.3768G>A (p.Met1256Ile)
c.1075G>A
n.333G>A
c.4725G>A (p.Met1575Ile)
 dbSNP gnomAD v3 gnomAD v4
11g.121145779G>CCA383022305TBCEL-TECTA,TECTAc.3768G>C (p.Met1256Ile)
c.1075G>C
n.333G>C
c.4725G>C (p.Met1575Ile)
11g.121145779G=CA2004737537TBCEL-TECTA,TECTAc.3768G= (p.Met1256=)
c.1075G=
n.333G=
c.4725G= (p.Met1575=)
11g.121145779G>TCA383022306TBCEL-TECTA,TECTAc.3768G>T (p.Met1256Ile)
c.1075G>T
n.333G>T
c.4725G>T (p.Met1575Ile)
11g.121145780G>ACA183103TBCEL-TECTA,TECTAc.3769G>A (p.Gly1257Ser)
c.1076G>A
n.334G>A
c.4726G>A (p.Gly1576Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145780G>CCA383022309TBCEL-TECTA,TECTAc.3769G>C (p.Gly1257Arg)
c.1076G>C
n.334G>C
c.4726G>C (p.Gly1576Arg)
11g.121145780G=CA2004737538TBCEL-TECTA,TECTAc.3769G= (p.Gly1257=)
c.1076G=
n.334G=
c.4726G= (p.Gly1576=)
11g.121145780G>TCA383022312TBCEL-TECTA,TECTAc.3769G>T (p.Gly1257Cys)
c.1076G>T
n.334G>T
c.4726G>T (p.Gly1576Cys)
11g.121145781G>ACA383022316TBCEL-TECTA,TECTAc.3770G>A (p.Gly1257Asp)
c.1077G>A
n.335G>A
c.4727G>A (p.Gly1576Asp)
11g.121145781G>CCA383022319TBCEL-TECTA,TECTAc.3770G>C (p.Gly1257Ala)
c.1077G>C
n.335G>C
c.4727G>C (p.Gly1576Ala)
11g.121145781G>TCA383022323TBCEL-TECTA,TECTAc.3770G>T (p.Gly1257Val)
c.1077G>T
n.335G>T
c.4727G>T (p.Gly1576Val)
11g.121145782T>ACA477382867TBCEL-TECTA,TECTAc.3771T>A (p.Gly1257=)
c.1078T>A
n.336T>A
c.4728T>A (p.Gly1576=)
11g.121145782T>CCA477382865TBCEL-TECTA,TECTAc.3771T>C (p.Gly1257=)
c.1078T>C
n.336T>C
c.4728T>C (p.Gly1576=)
 gnomAD v4
11g.121145782T>GCA477382866TBCEL-TECTA,TECTAc.3771T>G (p.Gly1257=)
c.1078T>G
n.336T>G
c.4728T>G (p.Gly1576=)
11g.121145783C>ACA383022325TBCEL-TECTA,TECTAc.3772C>A (p.Leu1258Met)
c.1079C>A
n.337C>A
c.4729C>A (p.Leu1577Met)
11g.121145783C>GCA383022324TBCEL-TECTA,TECTAc.3772C>G (p.Leu1258Val)
c.1079C>G
n.337C>G
c.4729C>G (p.Leu1577Val)
11g.121145783C>TCA477382868TBCEL-TECTA,TECTAc.3772C>T (p.Leu1258=)
c.1079C>T
n.337C>T
c.4729C>T (p.Leu1577=)
11g.121145784T>ACA383022326TBCEL-TECTA,TECTAc.3773T>A (p.Leu1258Gln)
c.1080T>A
n.338T>A
c.4730T>A (p.Leu1577Gln)
 ClinVar gnomAD v4
11g.121145784T>CCA383022328TBCEL-TECTA,TECTAc.3773T>C (p.Leu1258Pro)
c.1080T>C
n.338T>C
c.4730T>C (p.Leu1577Pro)
11g.121145784T>GCA383022330TBCEL-TECTA,TECTAc.3773T>G (p.Leu1258Arg)
c.1080T>G
n.338T>G
c.4730T>G (p.Leu1577Arg)
11g.121145785G>ACA477382869TBCEL-TECTA,TECTAc.3774G>A (p.Leu1258=)
c.1081G>A
n.339G>A
c.4731G>A (p.Leu1577=)
11g.121145785G>CCA477382870TBCEL-TECTA,TECTAc.3774G>C (p.Leu1258=)
c.1081G>C
n.339G>C
c.4731G>C (p.Leu1577=)
11g.121145785G>TCA477382871TBCEL-TECTA,TECTAc.3774G>T (p.Leu1258=)
c.1081G>T
n.339G>T
c.4731G>T (p.Leu1577=)
 COSMIC
11g.121145786C>ACA383022333TBCEL-TECTA,TECTAc.3775C>A (p.Leu1259Ile)
c.1082C>A
n.340C>A
c.4732C>A (p.Leu1578Ile)
11g.121145786C>GCA383022335TBCEL-TECTA,TECTAc.3775C>G (p.Leu1259Val)
c.1082C>G
n.340C>G
c.4732C>G (p.Leu1578Val)
11g.121145786C>TCA383022339TBCEL-TECTA,TECTAc.3775C>T (p.Leu1259Phe)
c.1082C>T
n.340C>T
c.4732C>T (p.Leu1578Phe)
11g.121145787T>ACA383022343TBCEL-TECTA,TECTAc.3776T>A (p.Leu1259His)
c.1083T>A
n.341T>A
c.4733T>A (p.Leu1578His)
11g.121145787T>CCA6327288TBCEL-TECTA,TECTAc.3776T>C (p.Leu1259Pro)
c.1083T>C
n.341T>C
c.4733T>C (p.Leu1578Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121145787T>GCA383022341TBCEL-TECTA,TECTAc.3776T>G (p.Leu1259Arg)
c.1083T>G
n.341T>G
c.4733T>G (p.Leu1578Arg)
11g.121145787T=CA2004737539TBCEL-TECTA,TECTAc.3776T= (p.Leu1259=)
c.1083T=
n.341T=
c.4733T= (p.Leu1578=)
11g.121145788T>ACA477382872TBCEL-TECTA,TECTAc.3777T>A (p.Leu1259=)
c.1084T>A
n.342T>A
c.4734T>A (p.Leu1578=)
11g.121145788T>CCA477382873TBCEL-TECTA,TECTAc.3777T>C (p.Leu1259=)
c.1084T>C
n.342T>C
c.4734T>C (p.Leu1578=)
11g.121145788T>GCA477382874TBCEL-TECTA,TECTAc.3777T>G (p.Leu1259=)
c.1084T>G
n.342T>G
c.4734T>G (p.Leu1578=)
11g.121145789G>ACA6327289TBCEL-TECTA,TECTAc.3778G>A (p.Ala1260Thr)
c.1085G>A
n.343G>A
c.4735G>A (p.Ala1579Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121145789G>CCA383022358TBCEL-TECTA,TECTAc.3778G>C (p.Ala1260Pro)
c.1085G>C
n.343G>C
c.4735G>C (p.Ala1579Pro)
 dbSNP
11g.121145789G=CA2004737540TBCEL-TECTA,TECTAc.3778G= (p.Ala1260=)
c.1085G=
n.343G=
c.4735G= (p.Ala1579=)
11g.121145789G>TCA383022363TBCEL-TECTA,TECTAc.3778G>T (p.Ala1260Ser)
c.1085G>T
n.343G>T
c.4735G>T (p.Ala1579Ser)
 gnomAD v4

Number of alleles fetched