Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
11g.121145790C>ACA383022368TBCEL-TECTA,TECTAc.3779C>A (p.Ala1260Glu)
c.1086C>A
n.344C>A
c.4736C>A (p.Ala1579Glu)
11g.121145790C>GCA383022372TBCEL-TECTA,TECTAc.3779C>G (p.Ala1260Gly)
c.1086C>G
n.344C>G
c.4736C>G (p.Ala1579Gly)
11g.121145790C>TCA383022374TBCEL-TECTA,TECTAc.3779C>T (p.Ala1260Val)
c.1086C>T
n.344C>T
c.4736C>T (p.Ala1579Val)
11g.121145791A=CA2004737541TBCEL-TECTA,TECTAc.3780A= (p.Ala1260=)
c.1087A=
n.345A=
c.4737A= (p.Ala1579=)
11g.121145791A>CCA477382877TBCEL-TECTA,TECTAc.3780A>C (p.Ala1260=)
c.1087A>C
n.345A>C
c.4737A>C (p.Ala1579=)
11g.121145791A>GCA477382876TBCEL-TECTA,TECTAc.3780A>G (p.Ala1260=)
c.1087A>G
n.345A>G
c.4737A>G (p.Ala1579=)
 gnomAD v4
11g.121145791A>TCA477382875TBCEL-TECTA,TECTAc.3780A>T (p.Ala1260=)
c.1087A>T
n.345A>T
c.4737A>T (p.Ala1579=)
11g.121145792T>ACA383022375TBCEL-TECTA,TECTAc.3781T>A (p.Ser1261Thr)
c.1088T>A
n.346T>A
c.4738T>A (p.Ser1580Thr)
11g.121145792T>CCA383022377TBCEL-TECTA,TECTAc.3781T>C (p.Ser1261Pro)
c.1088T>C
n.346T>C
c.4738T>C (p.Ser1580Pro)
11g.121145792T>GCA383022376TBCEL-TECTA,TECTAc.3781T>G (p.Ser1261Ala)
c.1088T>G
n.346T>G
c.4738T>G (p.Ser1580Ala)
11g.121145793_121145797dupCA672607265TBCEL-TECTA,TECTAc.3782_3786dup (p.Val1263ArgfsTer11)
c.1089_1093dup
n.347_351dup
c.4739_4743dup (p.Val1582ArgfsTer11)
 dbSNP gnomAD v3 gnomAD v4
11g.121145793C>ACA383022380TBCEL-TECTA,TECTAc.3782C>A (p.Ser1261Ter)
c.1089C>A
n.347C>A
c.4739C>A (p.Ser1580Ter)
11g.121145793C=CA2004737542TBCEL-TECTA,TECTAc.3782C= (p.Ser1261=)
c.1089C=
n.347C=
c.4739C= (p.Ser1580=)
11g.121145793C>GCA383022382TBCEL-TECTA,TECTAc.3782C>G (p.Ser1261Trp)
c.1089C>G
n.347C>G
c.4739C>G (p.Ser1580Trp)
11g.121145793C>TCA383022383TBCEL-TECTA,TECTAc.3782C>T (p.Ser1261Leu)
c.1089C>T
n.347C>T
c.4739C>T (p.Ser1580Leu)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.121145794G>ACA477382878TBCEL-TECTA,TECTAc.3783G>A (p.Ser1261=)
c.1090G>A
n.348G>A
c.4740G>A (p.Ser1580=)
 dbSNP gnomAD v2 gnomAD v4
11g.121145794G>CCA477382879TBCEL-TECTA,TECTAc.3783G>C (p.Ser1261=)
c.1090G>C
n.348G>C
c.4740G>C (p.Ser1580=)
11g.121145794G=CA2004737543TBCEL-TECTA,TECTAc.3783G= (p.Ser1261=)
c.1090G=
n.348G=
c.4740G= (p.Ser1580=)
11g.121145794G>TCA477382880TBCEL-TECTA,TECTAc.3783G>T (p.Ser1261=)
c.1090G>T
n.348G>T
c.4740G>T (p.Ser1580=)
 dbSNP gnomAD v2 gnomAD v4
11g.121145795A>CCA383022387TBCEL-TECTA,TECTAc.3784A>C (p.Ser1262Arg)
c.1091A>C
n.349A>C
c.4741A>C (p.Ser1581Arg)
11g.121145795A>GCA383022389TBCEL-TECTA,TECTAc.3784A>G (p.Ser1262Gly)
c.1091A>G
n.349A>G
c.4741A>G (p.Ser1581Gly)
11g.121145795A>TCA383022391TBCEL-TECTA,TECTAc.3784A>T (p.Ser1262Cys)
c.1091A>T
n.349A>T
c.4741A>T (p.Ser1581Cys)
11g.121145796G>ACA383022393TBCEL-TECTA,TECTAc.3785G>A (p.Ser1262Asn)
c.1092G>A
n.350G>A
c.4742G>A (p.Ser1581Asn)
11g.121145796G>CCA383022395TBCEL-TECTA,TECTAc.3785G>C (p.Ser1262Thr)
c.1092G>C
n.350G>C
c.4742G>C (p.Ser1581Thr)
11g.121145796G=CA2004737544TBCEL-TECTA,TECTAc.3785G= (p.Ser1262=)
c.1092G=
n.350G=
c.4742G= (p.Ser1581=)
11g.121145796G>TCA6327290TBCEL-TECTA,TECTAc.3785G>T (p.Ser1262Ile)
c.1092G>T
n.350G>T
c.4742G>T (p.Ser1581Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121145797T>ACA383022399TBCEL-TECTA,TECTAc.3786T>A (p.Ser1262Arg)
c.1093T>A
n.351T>A
c.4743T>A (p.Ser1581Arg)
11g.121145797T>CCA477382881TBCEL-TECTA,TECTAc.3786T>C (p.Ser1262=)
c.1093T>C
n.351T>C
c.4743T>C (p.Ser1581=)
 gnomAD v4
11g.121145797T>GCA383022401TBCEL-TECTA,TECTAc.3786T>G (p.Ser1262Arg)
c.1093T>G
n.351T>G
c.4743T>G (p.Ser1581Arg)
11g.121145798G>ACA383022403TBCEL-TECTA,TECTAc.3787G>A (p.Val1263Ile)
c.1094G>A
n.352G>A
c.4744G>A (p.Val1582Ile)
 dbSNP
11g.121145798G>CCA383022407TBCEL-TECTA,TECTAc.3787G>C (p.Val1263Leu)
c.1094G>C
n.352G>C
c.4744G>C (p.Val1582Leu)
11g.121145798G=CA2004737545TBCEL-TECTA,TECTAc.3787G= (p.Val1263=)
c.1094G=
n.352G=
c.4744G= (p.Val1582=)
11g.121145798G>TCA383022405TBCEL-TECTA,TECTAc.3787G>T (p.Val1263Phe)
c.1094G>T
n.352G>T
c.4744G>T (p.Val1582Phe)
 dbSNP gnomAD v4
11g.121145799T>ACA383022409TBCEL-TECTA,TECTAc.3788T>A (p.Val1263Asp)
c.1095T>A
n.353T>A
c.4745T>A (p.Val1582Asp)
11g.121145799T>CCA383022414TBCEL-TECTA,TECTAc.3788T>C (p.Val1263Ala)
c.1095T>C
n.353T>C
c.4745T>C (p.Val1582Ala)
11g.121145799T>GCA383022412TBCEL-TECTA,TECTAc.3788T>G (p.Val1263Gly)
c.1095T>G
n.353T>G
c.4745T>G (p.Val1582Gly)
11g.121145800C>ACA477382882TBCEL-TECTA,TECTAc.3789C>A (p.Val1263=)
c.1096C>A
n.354C>A
c.4746C>A (p.Val1582=)
11g.121145800C>GCA477382883TBCEL-TECTA,TECTAc.3789C>G (p.Val1263=)
c.1096C>G
n.354C>G
c.4746C>G (p.Val1582=)
11g.121145800C>TCA477382884TBCEL-TECTA,TECTAc.3789C>T (p.Val1263=)
c.1096C>T
n.354C>T
c.4746C>T (p.Val1582=)
11g.121145801A=CA2004737546TBCEL-TECTA,TECTAc.3790A= (p.Asn1264=)
c.1097A=
n.355A=
c.4747A= (p.Asn1583=)
11g.121145801A>CCA383022416TBCEL-TECTA,TECTAc.3790A>C (p.Asn1264His)
c.1097A>C
n.355A>C
c.4747A>C (p.Asn1583His)
 dbSNP
11g.121145801A>GCA383022418TBCEL-TECTA,TECTAc.3790A>G (p.Asn1264Asp)
c.1097A>G
n.355A>G
c.4747A>G (p.Asn1583Asp)
 dbSNP gnomAD v2 gnomAD v4
11g.121145801A>TCA383022420TBCEL-TECTA,TECTAc.3790A>T (p.Asn1264Tyr)
c.1097A>T
n.355A>T
c.4747A>T (p.Asn1583Tyr)
11g.121145802A=CA2004737547TBCEL-TECTA,TECTAc.3791A= (p.Asn1264=)
c.1098A=
n.356A=
c.4748A= (p.Asn1583=)
11g.121145802A>CCA383022423TBCEL-TECTA,TECTAc.3791A>C (p.Asn1264Thr)
c.1098A>C
n.356A>C
c.4748A>C (p.Asn1583Thr)
11g.121145802A>GCA6327291TBCEL-TECTA,TECTAc.3791A>G (p.Asn1264Ser)
c.1098A>G
n.356A>G
c.4748A>G (p.Asn1583Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145802A>TCA383022426TBCEL-TECTA,TECTAc.3791A>T (p.Asn1264Ile)
c.1098A>T
n.356A>T
c.4748A>T (p.Asn1583Ile)
11g.121145803T>ACA383022429TBCEL-TECTA,TECTAc.3792T>A (p.Asn1264Lys)
c.1099T>A
n.357T>A
c.4749T>A (p.Asn1583Lys)
11g.121145803T>CCA477382887TBCEL-TECTA,TECTAc.3792T>C (p.Asn1264=)
c.1099T>C
n.357T>C
c.4749T>C (p.Asn1583=)
11g.121145803T>GCA383022431TBCEL-TECTA,TECTAc.3792T>G (p.Asn1264Lys)
c.1099T>G
n.357T>G
c.4749T>G (p.Asn1583Lys)
 gnomAD v4
11g.121145804G>ACA383022435TBCEL-TECTA,TECTAc.3793G>A (p.Glu1265Lys)
c.1100G>A
n.358G>A
c.4750G>A (p.Glu1584Lys)
 gnomAD v4
11g.121145804G>CCA383022436TBCEL-TECTA,TECTAc.3793G>C (p.Glu1265Gln)
c.1100G>C
n.358G>C
c.4750G>C (p.Glu1584Gln)
11g.121145804G>TCA383022438TBCEL-TECTA,TECTAc.3793G>T (p.Glu1265Ter)
c.1100G>T
n.358G>T
c.4750G>T (p.Glu1584Ter)
11g.121145805A>CCA383022444TBCEL-TECTA,TECTAc.3794A>C (p.Glu1265Ala)
c.1101A>C
n.359A>C
c.4751A>C (p.Glu1584Ala)
11g.121145805A>GCA383022440TBCEL-TECTA,TECTAc.3794A>G (p.Glu1265Gly)
c.1101A>G
n.359A>G
c.4751A>G (p.Glu1584Gly)
11g.121145805A>TCA383022442TBCEL-TECTA,TECTAc.3794A>T (p.Glu1265Val)
c.1101A>T
n.359A>T
c.4751A>T (p.Glu1584Val)
11g.121145806G>ACA477382888TBCEL-TECTA,TECTAc.3795G>A (p.Glu1265=)
c.1102G>A
n.360G>A
c.4752G>A (p.Glu1584=)
11g.121145806G>CCA383022447TBCEL-TECTA,TECTAc.3795G>C (p.Glu1265Asp)
c.1102G>C
n.360G>C
c.4752G>C (p.Glu1584Asp)
 gnomAD v4
11g.121145806G>TCA383022449TBCEL-TECTA,TECTAc.3795G>T (p.Glu1265Asp)
c.1102G>T
n.360G>T
c.4752G>T (p.Glu1584Asp)
11g.121145807T>ACA383022451TBCEL-TECTA,TECTAc.3796T>A (p.Phe1266Ile)
c.1103T>A
n.361T>A
c.4753T>A (p.Phe1585Ile)
11g.121145807T>CCA383022452TBCEL-TECTA,TECTAc.3796T>C (p.Phe1266Leu)
c.1103T>C
n.361T>C
c.4753T>C (p.Phe1585Leu)
11g.121145807T>GCA383022453TBCEL-TECTA,TECTAc.3796T>G (p.Phe1266Val)
c.1103T>G
n.361T>G
c.4753T>G (p.Phe1585Val)
11g.121145809dupCA645593863TBCEL-TECTA,TECTAc.3798dup (p.Gly1267TrpfsTer?)
c.1105dup
n.363dup
c.4755dup (p.Gly1586TrpfsTer?)
 COSMIC
11g.121145808T>ACA383022454TBCEL-TECTA,TECTAc.3797T>A (p.Phe1266Tyr)
c.1104T>A
n.362T>A
c.4754T>A (p.Phe1585Tyr)
11g.121145808T>CCA383022455TBCEL-TECTA,TECTAc.3797T>C (p.Phe1266Ser)
c.1104T>C
n.362T>C
c.4754T>C (p.Phe1585Ser)
 gnomAD v4
11g.121145808T>GCA383022457TBCEL-TECTA,TECTAc.3797T>G (p.Phe1266Cys)
c.1104T>G
n.362T>G
c.4754T>G (p.Phe1585Cys)
11g.121145809T>ACA383022459TBCEL-TECTA,TECTAc.3798T>A (p.Phe1266Leu)
c.1105T>A
n.363T>A
c.4755T>A (p.Phe1585Leu)
11g.121145809T>CCA477382890TBCEL-TECTA,TECTAc.3798T>C (p.Phe1266=)
c.1105T>C
n.363T>C
c.4755T>C (p.Phe1585=)
11g.121145809T>GCA383022460TBCEL-TECTA,TECTAc.3798T>G (p.Phe1266Leu)
c.1105T>G
n.363T>G
c.4755T>G (p.Phe1585Leu)
11g.121145810G>ACA383022465TBCEL-TECTA,TECTAc.3799G>A (p.Gly1267Arg)
c.1106G>A
n.364G>A
c.4756G>A (p.Gly1586Arg)
 gnomAD v4
11g.121145810G>CCA383022467TBCEL-TECTA,TECTAc.3799G>C (p.Gly1267Arg)
c.1106G>C
n.364G>C
c.4756G>C (p.Gly1586Arg)
11g.121145810G>TCA383022461TBCEL-TECTA,TECTAc.3799G>T (p.Gly1267Trp)
c.1106G>T
n.364G>T
c.4756G>T (p.Gly1586Trp)
 dbSNP
11g.121145811G>ACA383022471TBCEL-TECTA,TECTAc.3800G>A (p.Gly1267Glu)
c.1107G>A
n.365G>A
c.4757G>A (p.Gly1586Glu)
 gnomAD v4
11g.121145811G>CCA383022473TBCEL-TECTA,TECTAc.3800G>C (p.Gly1267Ala)
c.1107G>C
n.365G>C
c.4757G>C (p.Gly1586Ala)
11g.121145811G>TCA383022474TBCEL-TECTA,TECTAc.3800G>T (p.Gly1267Val)
c.1107G>T
n.365G>T
c.4757G>T (p.Gly1586Val)
11g.121145812G>ACA477382892TBCEL-TECTA,TECTAc.3801G>A (p.Gly1267=)
c.1108G>A
n.366G>A
c.4758G>A (p.Gly1586=)
11g.121145812G>CCA477382894TBCEL-TECTA,TECTAc.3801G>C (p.Gly1267=)
c.1108G>C
n.366G>C
c.4758G>C (p.Gly1586=)
11g.121145812G>TCA477382895TBCEL-TECTA,TECTAc.3801G>T (p.Gly1267=)
c.1108G>T
n.366G>T
c.4758G>T (p.Gly1586=)
11g.121145813C>ACA383022477TBCEL-TECTA,TECTAc.3802C>A (p.Gln1268Lys)
c.1109C>A
n.367C>A
c.4759C>A (p.Gln1587Lys)
11g.121145813C>GCA383022479TBCEL-TECTA,TECTAc.3802C>G (p.Gln1268Glu)
c.1109C>G
n.367C>G
c.4759C>G (p.Gln1587Glu)
11g.121145813C>TCA383022480TBCEL-TECTA,TECTAc.3802C>T (p.Gln1268Ter)
c.1109C>T
n.367C>T
c.4759C>T (p.Gln1587Ter)
11g.121145814A=CA2004737548TBCEL-TECTA,TECTAc.3803A= (p.Gln1268=)
c.1110A=
n.368A=
c.4760A= (p.Gln1587=)
11g.121145814A>CCA383022481TBCEL-TECTA,TECTAc.3803A>C (p.Gln1268Pro)
c.1110A>C
n.368A>C
c.4760A>C (p.Gln1587Pro)
11g.121145814A>GCA383022483TBCEL-TECTA,TECTAc.3803A>G (p.Gln1268Arg)
c.1110A>G
n.368A>G
c.4760A>G (p.Gln1587Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121145814A>TCA383022485TBCEL-TECTA,TECTAc.3803A>T (p.Gln1268Leu)
c.1110A>T
n.368A>T
c.4760A>T (p.Gln1587Leu)

Number of alleles fetched