Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.132962946A>CCA2688652458TGc.5468-48A>C (n.5468-48A>C)
c.834-48A>C
c.2123-48A>C
c.5276-48A>C (n.5276-48A>C)
c.5402-48A>C (n.5402-48A>C)
c.5297-48A>C (n.5297-48A>C)
c.5249-48A>C (n.5249-48A>C)
c.5207-48A>C (n.5207-48A>C)
 gnomAD v4
8g.132962947C>TCA2688652459TGc.5468-47C>T (n.5468-47C>T)
c.834-47C>T
c.2123-47C>T
c.5276-47C>T (n.5276-47C>T)
c.5402-47C>T (n.5402-47C>T)
c.5297-47C>T (n.5297-47C>T)
c.5249-47C>T (n.5249-47C>T)
c.5207-47C>T (n.5207-47C>T)
 gnomAD v4
8g.132962948T>CCA584923267TGc.5468-46T>C (n.5468-46T>C)
c.834-46T>C
c.2123-46T>C
c.5276-46T>C (n.5276-46T>C)
c.5402-46T>C (n.5402-46T>C)
c.5297-46T>C (n.5297-46T>C)
c.5249-46T>C (n.5249-46T>C)
c.5207-46T>C (n.5207-46T>C)
 dbSNP gnomAD v2 gnomAD v4
8g.132962948T=CA1821029208TGc.5468-46T= (n.5468-46T=)
c.834-46T=
c.2123-46T=
c.5276-46T= (n.5276-46T=)
c.5402-46T= (n.5402-46T=)
c.5297-46T= (n.5297-46T=)
c.5249-46T= (n.5249-46T=)
c.5207-46T= (n.5207-46T=)
8g.132962949A=CA1821029209TGc.5468-45A= (n.5468-45A=)
c.834-45A=
c.2123-45A=
c.5276-45A= (n.5276-45A=)
c.5402-45A= (n.5402-45A=)
c.5297-45A= (n.5297-45A=)
c.5249-45A= (n.5249-45A=)
c.5207-45A= (n.5207-45A=)
8g.132962949A>CCA2688652460TGc.5468-45A>C (n.5468-45A>C)
c.834-45A>C
c.2123-45A>C
c.5276-45A>C (n.5276-45A>C)
c.5402-45A>C (n.5402-45A>C)
c.5297-45A>C (n.5297-45A>C)
c.5249-45A>C (n.5249-45A>C)
c.5207-45A>C (n.5207-45A>C)
 gnomAD v4
8g.132962949A>GCA1821029210TGc.5468-45A>G (n.5468-45A>G)
c.834-45A>G
c.2123-45A>G
c.5276-45A>G (n.5276-45A>G)
c.5402-45A>G (n.5402-45A>G)
c.5297-45A>G (n.5297-45A>G)
c.5249-45A>G (n.5249-45A>G)
c.5207-45A>G (n.5207-45A>G)
 dbSNP
8g.132962949A>TCA2579254441TGc.5468-45A>T (n.5468-45A>T)
c.834-45A>T
c.2123-45A>T
c.5276-45A>T (n.5276-45A>T)
c.5402-45A>T (n.5402-45A>T)
c.5297-45A>T (n.5297-45A>T)
c.5249-45A>T (n.5249-45A>T)
c.5207-45A>T (n.5207-45A>T)
 gnomAD v4
8g.132962950C>ACA2688652461TGc.5468-44C>A (n.5468-44C>A)
c.834-44C>A
c.2123-44C>A
c.5276-44C>A (n.5276-44C>A)
c.5402-44C>A (n.5402-44C>A)
c.5297-44C>A (n.5297-44C>A)
c.5249-44C>A (n.5249-44C>A)
c.5207-44C>A (n.5207-44C>A)
 gnomAD v4
8g.132962951C>ACA2688652462TGc.5468-43C>A (n.5468-43C>A)
c.834-43C>A
c.2123-43C>A
c.5276-43C>A (n.5276-43C>A)
c.5402-43C>A (n.5402-43C>A)
c.5297-43C>A (n.5297-43C>A)
c.5249-43C>A (n.5249-43C>A)
c.5207-43C>A (n.5207-43C>A)
 gnomAD v4
8g.132962952C>ACA2688652463TGc.5468-42C>A (n.5468-42C>A)
c.834-42C>A
c.2123-42C>A
c.5276-42C>A (n.5276-42C>A)
c.5402-42C>A (n.5402-42C>A)
c.5297-42C>A (n.5297-42C>A)
c.5249-42C>A (n.5249-42C>A)
c.5207-42C>A (n.5207-42C>A)
 gnomAD v4
8g.132962952C>TCA2688652464TGc.5468-42C>T (n.5468-42C>T)
c.834-42C>T
c.2123-42C>T
c.5276-42C>T (n.5276-42C>T)
c.5402-42C>T (n.5402-42C>T)
c.5297-42C>T (n.5297-42C>T)
c.5249-42C>T (n.5249-42C>T)
c.5207-42C>T (n.5207-42C>T)
 gnomAD v4
8g.132962953A=CA1821029212TGc.5468-41A= (n.5468-41A=)
c.834-41A=
c.2123-41A=
c.5276-41A= (n.5276-41A=)
c.5402-41A= (n.5402-41A=)
c.5297-41A= (n.5297-41A=)
c.5249-41A= (n.5249-41A=)
c.5207-41A= (n.5207-41A=)
8g.132962953A>CCA2718156005TGc.5468-41A>C (n.5468-41A>C)
c.834-41A>C
c.2123-41A>C
c.5276-41A>C (n.5276-41A>C)
c.5402-41A>C (n.5402-41A>C)
c.5297-41A>C (n.5297-41A>C)
c.5249-41A>C (n.5249-41A>C)
c.5207-41A>C (n.5207-41A>C)
 dbSNP
8g.132962953A>GCA1821029211TGc.5468-41A>G (n.5468-41A>G)
c.834-41A>G
c.2123-41A>G
c.5276-41A>G (n.5276-41A>G)
c.5402-41A>G (n.5402-41A>G)
c.5297-41A>G (n.5297-41A>G)
c.5249-41A>G (n.5249-41A>G)
c.5207-41A>G (n.5207-41A>G)
 dbSNP
8g.132962953_132962955delinsATTCA1821029213TGc.5468-41_5468-39delinsATT (n.5468-41_5468-39delinsATT)
c.834-41_834-39delinsATT
c.2123-41_2123-39delinsATT
c.5276-41_5276-39delinsATT (n.5276-41_5276-39delinsATT)
c.5402-41_5402-39delinsATT (n.5402-41_5402-39delinsATT)
c.5297-41_5297-39delinsATT (n.5297-41_5297-39delinsATT)
c.5249-41_5249-39delinsATT (n.5249-41_5249-39delinsATT)
c.5207-41_5207-39delinsATT (n.5207-41_5207-39delinsATT)
8g.132962954T>GCA2688652465TGc.5468-40T>G (n.5468-40T>G)
c.834-40T>G
c.2123-40T>G
c.5276-40T>G (n.5276-40T>G)
c.5402-40T>G (n.5402-40T>G)
c.5297-40T>G (n.5297-40T>G)
c.5249-40T>G (n.5249-40T>G)
c.5207-40T>G (n.5207-40T>G)
 gnomAD v4
8g.132962954_132962955delCA4884525TGc.5468-40_5468-39del (n.5468-40_5468-39del)
c.834-40_834-39del
c.2123-40_2123-39del
c.5276-40_5276-39del (n.5276-40_5276-39del)
c.5402-40_5402-39del (n.5402-40_5402-39del)
c.5297-40_5297-39del (n.5297-40_5297-39del)
c.5249-40_5249-39del (n.5249-40_5249-39del)
c.5207-40_5207-39del (n.5207-40_5207-39del)
 dbSNP ExAC gnomAD v2
8g.132962956C>ACA2688652466TGc.5468-38C>A (n.5468-38C>A)
c.834-38C>A
c.2123-38C>A
c.5276-38C>A (n.5276-38C>A)
c.5402-38C>A (n.5402-38C>A)
c.5297-38C>A (n.5297-38C>A)
c.5249-38C>A (n.5249-38C>A)
c.5207-38C>A (n.5207-38C>A)
 gnomAD v4
8g.132962956C=CA1821029214TGc.5468-38C= (n.5468-38C=)
c.834-38C=
c.2123-38C=
c.5276-38C= (n.5276-38C=)
c.5402-38C= (n.5402-38C=)
c.5297-38C= (n.5297-38C=)
c.5249-38C= (n.5249-38C=)
c.5207-38C= (n.5207-38C=)
8g.132962956C>TCA186288611TGc.5468-38C>T (n.5468-38C>T)
c.834-38C>T
c.2123-38C>T
c.5276-38C>T (n.5276-38C>T)
c.5402-38C>T (n.5402-38C>T)
c.5297-38C>T (n.5297-38C>T)
c.5249-38C>T (n.5249-38C>T)
c.5207-38C>T (n.5207-38C>T)
 dbSNP gnomAD v3 gnomAD v4
8g.132962958C=CA1821029215TGc.5468-36C= (n.5468-36C=)
c.834-36C=
c.2123-36C=
c.5276-36C= (n.5276-36C=)
c.5402-36C= (n.5402-36C=)
c.5297-36C= (n.5297-36C=)
c.5249-36C= (n.5249-36C=)
c.5207-36C= (n.5207-36C=)
8g.132962958C>TCA1821029216TGc.5468-36C>T (n.5468-36C>T)
c.834-36C>T
c.2123-36C>T
c.5276-36C>T (n.5276-36C>T)
c.5402-36C>T (n.5402-36C>T)
c.5297-36C>T (n.5297-36C>T)
c.5249-36C>T (n.5249-36C>T)
c.5207-36C>T (n.5207-36C>T)
 dbSNP
8g.132962959C=CA1821029217TGc.5468-35C= (n.5468-35C=)
c.834-35C=
c.2123-35C=
c.5276-35C= (n.5276-35C=)
c.5402-35C= (n.5402-35C=)
c.5297-35C= (n.5297-35C=)
c.5249-35C= (n.5249-35C=)
c.5207-35C= (n.5207-35C=)
8g.132962959C>GCA4884526TGc.5468-35C>G (n.5468-35C>G)
c.834-35C>G
c.2123-35C>G
c.5276-35C>G (n.5276-35C>G)
c.5402-35C>G (n.5402-35C>G)
c.5297-35C>G (n.5297-35C>G)
c.5249-35C>G (n.5249-35C>G)
c.5207-35C>G (n.5207-35C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132962961C>ACA1821029219TGc.5468-33C>A (n.5468-33C>A)
c.834-33C>A
c.2123-33C>A
c.5276-33C>A (n.5276-33C>A)
c.5402-33C>A (n.5402-33C>A)
c.5297-33C>A (n.5297-33C>A)
c.5249-33C>A (n.5249-33C>A)
c.5207-33C>A (n.5207-33C>A)
 dbSNP gnomAD v4
8g.132962961C=CA1821029218TGc.5468-33C= (n.5468-33C=)
c.834-33C=
c.2123-33C=
c.5276-33C= (n.5276-33C=)
c.5402-33C= (n.5402-33C=)
c.5297-33C= (n.5297-33C=)
c.5249-33C= (n.5249-33C=)
c.5207-33C= (n.5207-33C=)
8g.132962962A>GCA2688652467TGc.5468-32A>G (n.5468-32A>G)
c.834-32A>G
c.2123-32A>G
c.5276-32A>G (n.5276-32A>G)
c.5402-32A>G (n.5402-32A>G)
c.5297-32A>G (n.5297-32A>G)
c.5249-32A>G (n.5249-32A>G)
c.5207-32A>G (n.5207-32A>G)
 gnomAD v4
8g.132962963A=CA1821029220TGc.5468-31A= (n.5468-31A=)
c.834-31A=
c.2123-31A=
c.5276-31A= (n.5276-31A=)
c.5402-31A= (n.5402-31A=)
c.5297-31A= (n.5297-31A=)
c.5249-31A= (n.5249-31A=)
c.5207-31A= (n.5207-31A=)
8g.132962963A>GCA4884527TGc.5468-31A>G (n.5468-31A>G)
c.834-31A>G
c.2123-31A>G
c.5276-31A>G (n.5276-31A>G)
c.5402-31A>G (n.5402-31A>G)
c.5297-31A>G (n.5297-31A>G)
c.5249-31A>G (n.5249-31A>G)
c.5207-31A>G (n.5207-31A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132962964C=CA1821029221TGc.5468-30C= (n.5468-30C=)
c.834-30C=
c.2123-30C=
c.5276-30C= (n.5276-30C=)
c.5402-30C= (n.5402-30C=)
c.5297-30C= (n.5297-30C=)
c.5249-30C= (n.5249-30C=)
c.5207-30C= (n.5207-30C=)
8g.132962964C>TCA584923268TGc.5468-30C>T (n.5468-30C>T)
c.834-30C>T
c.2123-30C>T
c.5276-30C>T (n.5276-30C>T)
c.5402-30C>T (n.5402-30C>T)
c.5297-30C>T (n.5297-30C>T)
c.5249-30C>T (n.5249-30C>T)
c.5207-30C>T (n.5207-30C>T)
 dbSNP gnomAD v2
8g.132962965A>GCA2688652468TGc.5468-29A>G (n.5468-29A>G)
c.834-29A>G
c.2123-29A>G
c.5276-29A>G (n.5276-29A>G)
c.5402-29A>G (n.5402-29A>G)
c.5297-29A>G (n.5297-29A>G)
c.5249-29A>G (n.5249-29A>G)
c.5207-29A>G (n.5207-29A>G)
 gnomAD v4
8g.132962966T>CCA2688652469TGc.5468-28T>C (n.5468-28T>C)
c.834-28T>C
c.2123-28T>C
c.5276-28T>C (n.5276-28T>C)
c.5402-28T>C (n.5402-28T>C)
c.5297-28T>C (n.5297-28T>C)
c.5249-28T>C (n.5249-28T>C)
c.5207-28T>C (n.5207-28T>C)
 gnomAD v4
8g.132962967T>ACA2688652470TGc.5468-27T>A (n.5468-27T>A)
c.834-27T>A
c.2123-27T>A
c.5276-27T>A (n.5276-27T>A)
c.5402-27T>A (n.5402-27T>A)
c.5297-27T>A (n.5297-27T>A)
c.5249-27T>A (n.5249-27T>A)
c.5207-27T>A (n.5207-27T>A)
 gnomAD v4
8g.132962967T>GCA584923269TGc.5468-27T>G (n.5468-27T>G)
c.834-27T>G
c.2123-27T>G
c.5276-27T>G (n.5276-27T>G)
c.5402-27T>G (n.5402-27T>G)
c.5297-27T>G (n.5297-27T>G)
c.5249-27T>G (n.5249-27T>G)
c.5207-27T>G (n.5207-27T>G)
 dbSNP gnomAD v2 gnomAD v4
8g.132962967T=CA1821029222TGc.5468-27T= (n.5468-27T=)
c.834-27T=
c.2123-27T=
c.5276-27T= (n.5276-27T=)
c.5402-27T= (n.5402-27T=)
c.5297-27T= (n.5297-27T=)
c.5249-27T= (n.5249-27T=)
c.5207-27T= (n.5207-27T=)
8g.132962968G>ACA2782272867TGc.5468-26G>A (n.5468-26G>A)
c.834-26G>A
c.2123-26G>A
c.5276-26G>A (n.5276-26G>A)
c.5402-26G>A (n.5402-26G>A)
c.5297-26G>A (n.5297-26G>A)
c.5249-26G>A (n.5249-26G>A)
c.5207-26G>A (n.5207-26G>A)
8g.132962968G=CA1821029223TGc.5468-26G= (n.5468-26G=)
c.834-26G=
c.2123-26G=
c.5276-26G= (n.5276-26G=)
c.5402-26G= (n.5402-26G=)
c.5297-26G= (n.5297-26G=)
c.5249-26G= (n.5249-26G=)
c.5207-26G= (n.5207-26G=)
8g.132962968G>TCA1119386683TGc.5468-26G>T (n.5468-26G>T)
c.834-26G>T
c.2123-26G>T
c.5276-26G>T (n.5276-26G>T)
c.5402-26G>T (n.5402-26G>T)
c.5297-26G>T (n.5297-26G>T)
c.5249-26G>T (n.5249-26G>T)
c.5207-26G>T (n.5207-26G>T)
 dbSNP gnomAD v3 gnomAD v4
8g.132962969C=CA1821029224TGc.5468-25C= (n.5468-25C=)
c.834-25C=
c.2123-25C=
c.5276-25C= (n.5276-25C=)
c.5402-25C= (n.5402-25C=)
c.5297-25C= (n.5297-25C=)
c.5249-25C= (n.5249-25C=)
c.5207-25C= (n.5207-25C=)
8g.132962969C>TCA186288621TGc.5468-25C>T (n.5468-25C>T)
c.834-25C>T
c.2123-25C>T
c.5276-25C>T (n.5276-25C>T)
c.5402-25C>T (n.5402-25C>T)
c.5297-25C>T (n.5297-25C>T)
c.5249-25C>T (n.5249-25C>T)
c.5207-25C>T (n.5207-25C>T)
 dbSNP
8g.132962970A>CCA2688652471TGc.5468-24A>C (n.5468-24A>C)
c.834-24A>C
c.2123-24A>C
c.5276-24A>C (n.5276-24A>C)
c.5402-24A>C (n.5402-24A>C)
c.5297-24A>C (n.5297-24A>C)
c.5249-24A>C (n.5249-24A>C)
c.5207-24A>C (n.5207-24A>C)
 gnomAD v4
8g.132962973A>GCA2579254442TGc.5468-21A>G (n.5468-21A>G)
c.834-21A>G
c.2123-21A>G
c.5276-21A>G (n.5276-21A>G)
c.5402-21A>G (n.5402-21A>G)
c.5297-21A>G (n.5297-21A>G)
c.5249-21A>G (n.5249-21A>G)
c.5207-21A>G (n.5207-21A>G)
8g.132962974A=CA1821029225TGc.5468-20A= (n.5468-20A=)
c.834-20A=
c.2123-20A=
c.5276-20A= (n.5276-20A=)
c.5402-20A= (n.5402-20A=)
c.5297-20A= (n.5297-20A=)
c.5249-20A= (n.5249-20A=)
c.5207-20A= (n.5207-20A=)
8g.132962974A>GCA4884528TGc.5468-20A>G (n.5468-20A>G)
c.834-20A>G
c.2123-20A>G
c.5276-20A>G (n.5276-20A>G)
c.5402-20A>G (n.5402-20A>G)
c.5297-20A>G (n.5297-20A>G)
c.5249-20A>G (n.5249-20A>G)
c.5207-20A>G (n.5207-20A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132962975C>ACA1821029227TGc.5468-19C>A (n.5468-19C>A)
c.834-19C>A
c.2123-19C>A
c.5276-19C>A (n.5276-19C>A)
c.5402-19C>A (n.5402-19C>A)
c.5297-19C>A (n.5297-19C>A)
c.5249-19C>A (n.5249-19C>A)
c.5207-19C>A (n.5207-19C>A)
 dbSNP gnomAD v4
8g.132962975C=CA1821029226TGc.5468-19C= (n.5468-19C=)
c.834-19C=
c.2123-19C=
c.5276-19C= (n.5276-19C=)
c.5402-19C= (n.5402-19C=)
c.5297-19C= (n.5297-19C=)
c.5249-19C= (n.5249-19C=)
c.5207-19C= (n.5207-19C=)
8g.132962976T>CCA2688652472TGc.5468-18T>C (n.5468-18T>C)
c.834-18T>C
c.2123-18T>C
c.5276-18T>C (n.5276-18T>C)
c.5402-18T>C (n.5402-18T>C)
c.5297-18T>C (n.5297-18T>C)
c.5249-18T>C (n.5249-18T>C)
c.5207-18T>C (n.5207-18T>C)
 gnomAD v4
8g.132962977C>GCA2688652473TGc.5468-17C>G (n.5468-17C>G)
c.834-17C>G
c.2123-17C>G
c.5276-17C>G (n.5276-17C>G)
c.5402-17C>G (n.5402-17C>G)
c.5297-17C>G (n.5297-17C>G)
c.5249-17C>G (n.5249-17C>G)
c.5207-17C>G (n.5207-17C>G)
 gnomAD v4
8g.132962977_132962979delinsCTTCA1821029228TGc.5468-17_5468-15delinsCTT (n.5468-17_5468-15delinsCTT)
c.834-17_834-15delinsCTT
c.2123-17_2123-15delinsCTT
c.5276-17_5276-15delinsCTT (n.5276-17_5276-15delinsCTT)
c.5402-17_5402-15delinsCTT (n.5402-17_5402-15delinsCTT)
c.5297-17_5297-15delinsCTT (n.5297-17_5297-15delinsCTT)
c.5249-17_5249-15delinsCTT (n.5249-17_5249-15delinsCTT)
c.5207-17_5207-15delinsCTT (n.5207-17_5207-15delinsCTT)
8g.132962978T>CCA584923271TGc.5468-16T>C (n.5468-16T>C)
c.834-16T>C
c.2123-16T>C
c.5276-16T>C (n.5276-16T>C)
c.5402-16T>C (n.5402-16T>C)
c.5297-16T>C (n.5297-16T>C)
c.5249-16T>C (n.5249-16T>C)
c.5207-16T>C (n.5207-16T>C)
 dbSNP gnomAD v2 gnomAD v4
8g.132962978T=CA1821029229TGc.5468-16T= (n.5468-16T=)
c.834-16T=
c.2123-16T=
c.5276-16T= (n.5276-16T=)
c.5402-16T= (n.5402-16T=)
c.5297-16T= (n.5297-16T=)
c.5249-16T= (n.5249-16T=)
c.5207-16T= (n.5207-16T=)
8g.132962985dupCA4884529TGc.5468-9dup (n.5468-9dup)
c.834-9dup
c.2123-9dup
c.5276-9dup (n.5276-9dup)
c.5402-9dup (n.5402-9dup)
c.5297-9dup (n.5297-9dup)
c.5249-9dup (n.5249-9dup)
c.5207-9dup (n.5207-9dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132962985delCA652840508TGc.5468-9del (n.5468-9del)
c.834-9del
c.2123-9del
c.5276-9del (n.5276-9del)
c.5402-9del (n.5402-9del)
c.5297-9del (n.5297-9del)
c.5249-9del (n.5249-9del)
c.5207-9del (n.5207-9del)
 gnomAD v4 COSMIC COSMIC
8g.132962984_132962985delCA584923270TGc.5468-10_5468-9del (n.5468-10_5468-9del)
c.834-10_834-9del
c.2123-10_2123-9del
c.5276-10_5276-9del (n.5276-10_5276-9del)
c.5402-10_5402-9del (n.5402-10_5402-9del)
c.5297-10_5297-9del (n.5297-10_5297-9del)
c.5249-10_5249-9del (n.5249-10_5249-9del)
c.5207-10_5207-9del (n.5207-10_5207-9del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.132962980T>CCA847717058TGc.5468-14T>C (n.5468-14T>C)
c.834-14T>C
c.2123-14T>C
c.5276-14T>C (n.5276-14T>C)
c.5402-14T>C (n.5402-14T>C)
c.5297-14T>C (n.5297-14T>C)
c.5249-14T>C (n.5249-14T>C)
c.5207-14T>C (n.5207-14T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.132962980T=CA1821029230TGc.5468-14T= (n.5468-14T=)
c.834-14T=
c.2123-14T=
c.5276-14T= (n.5276-14T=)
c.5402-14T= (n.5402-14T=)
c.5297-14T= (n.5297-14T=)
c.5249-14T= (n.5249-14T=)
c.5207-14T= (n.5207-14T=)
8g.132962981T>ACA1821029232TGc.5468-13T>A (n.5468-13T>A)
c.834-13T>A
c.2123-13T>A
c.5276-13T>A (n.5276-13T>A)
c.5402-13T>A (n.5402-13T>A)
c.5297-13T>A (n.5297-13T>A)
c.5249-13T>A (n.5249-13T>A)
c.5207-13T>A (n.5207-13T>A)
 dbSNP
8g.132962981T=CA1821029231TGc.5468-13T= (n.5468-13T=)
c.834-13T=
c.2123-13T=
c.5276-13T= (n.5276-13T=)
c.5402-13T= (n.5402-13T=)
c.5297-13T= (n.5297-13T=)
c.5249-13T= (n.5249-13T=)
c.5207-13T= (n.5207-13T=)
8g.132962982T>CCA847717059TGc.5468-12T>C (n.5468-12T>C)
c.834-12T>C
c.2123-12T>C
c.5276-12T>C (n.5276-12T>C)
c.5402-12T>C (n.5402-12T>C)
c.5297-12T>C (n.5297-12T>C)
c.5249-12T>C (n.5249-12T>C)
c.5207-12T>C (n.5207-12T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.132962982T>GCA2688652474TGc.5468-12T>G (n.5468-12T>G)
c.834-12T>G
c.2123-12T>G
c.5276-12T>G (n.5276-12T>G)
c.5402-12T>G (n.5402-12T>G)
c.5297-12T>G (n.5297-12T>G)
c.5249-12T>G (n.5249-12T>G)
c.5207-12T>G (n.5207-12T>G)
 gnomAD v4
8g.132962982T=CA1821029233TGc.5468-12T= (n.5468-12T=)
c.834-12T=
c.2123-12T=
c.5276-12T= (n.5276-12T=)
c.5402-12T= (n.5402-12T=)
c.5297-12T= (n.5297-12T=)
c.5249-12T= (n.5249-12T=)
c.5207-12T= (n.5207-12T=)
8g.132962983T>ACA584923272TGc.5468-11T>A (n.5468-11T>A)
c.834-11T>A
c.2123-11T>A
c.5276-11T>A (n.5276-11T>A)
c.5402-11T>A (n.5402-11T>A)
c.5297-11T>A (n.5297-11T>A)
c.5249-11T>A (n.5249-11T>A)
c.5207-11T>A (n.5207-11T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.132962983T=CA1821029234TGc.5468-11T= (n.5468-11T=)
c.834-11T=
c.2123-11T=
c.5276-11T= (n.5276-11T=)
c.5402-11T= (n.5402-11T=)
c.5297-11T= (n.5297-11T=)
c.5249-11T= (n.5249-11T=)
c.5207-11T= (n.5207-11T=)
8g.132962985T>ACA2688652475TGc.5468-9T>A (n.5468-9T>A)
c.834-9T>A
c.2123-9T>A
c.5276-9T>A (n.5276-9T>A)
c.5402-9T>A (n.5402-9T>A)
c.5297-9T>A (n.5297-9T>A)
c.5249-9T>A (n.5249-9T>A)
c.5207-9T>A (n.5207-9T>A)
 gnomAD v4
8g.132962985T>CCA4884530TGc.5468-9T>C (n.5468-9T>C)
c.834-9T>C
c.2123-9T>C
c.5276-9T>C (n.5276-9T>C)
c.5402-9T>C (n.5402-9T>C)
c.5297-9T>C (n.5297-9T>C)
c.5249-9T>C (n.5249-9T>C)
c.5207-9T>C (n.5207-9T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.132962985T=CA1821029235TGc.5468-9T= (n.5468-9T=)
c.834-9T=
c.2123-9T=
c.5276-9T= (n.5276-9T=)
c.5402-9T= (n.5402-9T=)
c.5297-9T= (n.5297-9T=)
c.5249-9T= (n.5249-9T=)
c.5207-9T= (n.5207-9T=)
8g.132962985_132962986delinsTCCA1821029236TGc.5468-9_5468-8delinsTC (n.5468-9_5468-8delinsTC)
c.834-9_834-8delinsTC
c.2123-9_2123-8delinsTC
c.5276-9_5276-8delinsTC (n.5276-9_5276-8delinsTC)
c.5402-9_5402-8delinsTC (n.5402-9_5402-8delinsTC)
c.5297-9_5297-8delinsTC (n.5297-9_5297-8delinsTC)
c.5249-9_5249-8delinsTC (n.5249-9_5249-8delinsTC)
c.5207-9_5207-8delinsTC (n.5207-9_5207-8delinsTC)
8g.132962986C>TCA2688652477TGc.5468-8C>T (n.5468-8C>T)
c.834-8C>T
c.2123-8C>T
c.5276-8C>T (n.5276-8C>T)
c.5402-8C>T (n.5402-8C>T)
c.5297-8C>T (n.5297-8C>T)
c.5249-8C>T (n.5249-8C>T)
c.5207-8C>T (n.5207-8C>T)
 ClinVar gnomAD v4
8g.132962987dupCA2688652476TGc.5468-7dup (n.5468-7dup)
c.834-7dup
c.2123-7dup
c.5276-7dup (n.5276-7dup)
c.5402-7dup (n.5402-7dup)
c.5297-7dup (n.5297-7dup)
c.5249-7dup (n.5249-7dup)
c.5207-7dup (n.5207-7dup)
 gnomAD v4
8g.132962987delCA1821029237TGc.5468-7del (n.5468-7del)
c.834-7del
c.2123-7del
c.5276-7del (n.5276-7del)
c.5402-7del (n.5402-7del)
c.5297-7del (n.5297-7del)
c.5249-7del (n.5249-7del)
c.5207-7del (n.5207-7del)
 ClinVar dbSNP gnomAD v4
8g.132962988T>ACA2688652478TGc.5468-6T>A (n.5468-6T>A)
c.834-6T>A
c.2123-6T>A
c.5276-6T>A (n.5276-6T>A)
c.5402-6T>A (n.5402-6T>A)
c.5297-6T>A (n.5297-6T>A)
c.5249-6T>A (n.5249-6T>A)
c.5207-6T>A (n.5207-6T>A)
 gnomAD v4
8g.132962988T>CCA2697550140TGc.5468-6T>C (n.5468-6T>C)
c.834-6T>C
c.2123-6T>C
c.5276-6T>C (n.5276-6T>C)
c.5402-6T>C (n.5402-6T>C)
c.5297-6T>C (n.5297-6T>C)
c.5249-6T>C (n.5249-6T>C)
c.5207-6T>C (n.5207-6T>C)
 ClinVar
8g.132962988T>GCA1821029238TGc.5468-6T>G (n.5468-6T>G)
c.834-6T>G
c.2123-6T>G
c.5276-6T>G (n.5276-6T>G)
c.5402-6T>G (n.5402-6T>G)
c.5297-6T>G (n.5297-6T>G)
c.5249-6T>G (n.5249-6T>G)
c.5207-6T>G (n.5207-6T>G)
 dbSNP
8g.132962988T=CA1821029239TGc.5468-6T= (n.5468-6T=)
c.834-6T=
c.2123-6T=
c.5276-6T= (n.5276-6T=)
c.5402-6T= (n.5402-6T=)
c.5297-6T= (n.5297-6T=)
c.5249-6T= (n.5249-6T=)
c.5207-6T= (n.5207-6T=)
8g.132962989C=CA1821029240TGc.5468-5C= (n.5468-5C=)
c.834-5C=
c.2123-5C=
c.5276-5C= (n.5276-5C=)
c.5402-5C= (n.5402-5C=)
c.5297-5C= (n.5297-5C=)
c.5249-5C= (n.5249-5C=)
c.5207-5C= (n.5207-5C=)
8g.132962989C>TCA4884531TGc.5468-5C>T (n.5468-5C>T)
c.834-5C>T
c.2123-5C>T
c.5276-5C>T (n.5276-5C>T)
c.5402-5C>T (n.5402-5C>T)
c.5297-5C>T (n.5297-5C>T)
c.5249-5C>T (n.5249-5C>T)
c.5207-5C>T (n.5207-5C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132962990C=CA1821029241TGc.5468-4C= (n.5468-4C=)
c.834-4C=
c.2123-4C=
c.5276-4C= (n.5276-4C=)
c.5402-4C= (n.5402-4C=)
c.5297-4C= (n.5297-4C=)
c.5249-4C= (n.5249-4C=)
c.5207-4C= (n.5207-4C=)
8g.132962990C>GCA1119386684TGc.5468-4C>G (n.5468-4C>G)
c.834-4C>G
c.2123-4C>G
c.5276-4C>G (n.5276-4C>G)
c.5402-4C>G (n.5402-4C>G)
c.5297-4C>G (n.5297-4C>G)
c.5249-4C>G (n.5249-4C>G)
c.5207-4C>G (n.5207-4C>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.132962990C>TCA1821029242TGc.5468-4C>T (n.5468-4C>T)
c.834-4C>T
c.2123-4C>T
c.5276-4C>T (n.5276-4C>T)
c.5402-4C>T (n.5402-4C>T)
c.5297-4C>T (n.5297-4C>T)
c.5249-4C>T (n.5249-4C>T)
c.5207-4C>T (n.5207-4C>T)
 ClinVar dbSNP gnomAD v4
8g.132962991delCA2579254443TGc.5468-3del (n.5468-3del)
c.834-3del
c.2123-3del
c.5276-3del (n.5276-3del)
c.5402-3del (n.5402-3del)
c.5297-3del (n.5297-3del)
c.5249-3del (n.5249-3del)
c.5207-3del (n.5207-3del)
8g.132962991T>CCA584923273TGc.5468-3T>C (n.5468-3T>C)
c.834-3T>C
c.2123-3T>C
c.5276-3T>C (n.5276-3T>C)
c.5402-3T>C (n.5402-3T>C)
c.5297-3T>C (n.5297-3T>C)
c.5249-3T>C (n.5249-3T>C)
c.5207-3T>C (n.5207-3T>C)
 dbSNP gnomAD v2 gnomAD v4
8g.132962991T=CA1821029243TGc.5468-3T= (n.5468-3T=)
c.834-3T=
c.2123-3T=
c.5276-3T= (n.5276-3T=)
c.5402-3T= (n.5402-3T=)
c.5297-3T= (n.5297-3T=)
c.5249-3T= (n.5249-3T=)
c.5207-3T= (n.5207-3T=)
8g.132962992A=CA1821029244TGc.5468-2A= (n.5468-2A=)
c.834-2A=
c.2123-2A=
c.5276-2A= (n.5276-2A=)
c.5402-2A= (n.5402-2A=)
c.5297-2A= (n.5297-2A=)
c.5249-2A= (n.5249-2A=)
c.5207-2A= (n.5207-2A=)
8g.132962992A>CCA372231131TGc.5468-2A>C (n.5468-2A>C)
c.834-2A>C
c.2123-2A>C
c.5276-2A>C (n.5276-2A>C)
c.5402-2A>C (n.5402-2A>C)
c.5297-2A>C (n.5297-2A>C)
c.5249-2A>C (n.5249-2A>C)
c.5207-2A>C (n.5207-2A>C)
8g.132962992A>GCA186288647TGc.5468-2A>G (n.5468-2A>G)
c.834-2A>G
c.2123-2A>G
c.5276-2A>G (n.5276-2A>G)
c.5402-2A>G (n.5402-2A>G)
c.5297-2A>G (n.5297-2A>G)
c.5249-2A>G (n.5249-2A>G)
c.5207-2A>G (n.5207-2A>G)
 ClinVar dbSNP gnomAD v4
8g.132962992A>TCA372231136TGc.5468-2A>T (n.5468-2A>T)
c.834-2A>T
c.2123-2A>T
c.5276-2A>T (n.5276-2A>T)
c.5402-2A>T (n.5402-2A>T)
c.5297-2A>T (n.5297-2A>T)
c.5249-2A>T (n.5249-2A>T)
c.5207-2A>T (n.5207-2A>T)
8g.132962993G>ACA186288656TGc.5468-1G>A (n.5468-1G>A)
c.834-1G>A
c.2123-1G>A
c.5276-1G>A (n.5276-1G>A)
c.5402-1G>A (n.5402-1G>A)
c.5297-1G>A (n.5297-1G>A)
c.5249-1G>A (n.5249-1G>A)
c.5207-1G>A (n.5207-1G>A)
 dbSNP
8g.132962993G>CCA4884532TGc.5468-1G>C (n.5468-1G>C)
c.834-1G>C
c.2123-1G>C
c.5276-1G>C (n.5276-1G>C)
c.5402-1G>C (n.5402-1G>C)
c.5297-1G>C (n.5297-1G>C)
c.5249-1G>C (n.5249-1G>C)
c.5207-1G>C (n.5207-1G>C)
 dbSNP ExAC gnomAD v2
8g.132962993G=CA1821029245TGc.5468-1G= (n.5468-1G=)
c.834-1G=
c.2123-1G=
c.5276-1G= (n.5276-1G=)
c.5402-1G= (n.5402-1G=)
c.5297-1G= (n.5297-1G=)
c.5249-1G= (n.5249-1G=)
c.5207-1G= (n.5207-1G=)
8g.132962993G>TCA372231141TGc.5468-1G>T (n.5468-1G>T)
c.834-1G>T
c.2123-1G>T
c.5276-1G>T (n.5276-1G>T)
c.5402-1G>T (n.5402-1G>T)
c.5297-1G>T (n.5297-1G>T)
c.5249-1G>T (n.5249-1G>T)
c.5207-1G>T (n.5207-1G>T)
 COSMIC
8g.132962994A>CCA372231145TGc.5468A>C (p.Asp1823Ala)
c.1A>C
c.834A>C
c.2123A>C
c.5276A>C (p.Asp1759Ala)
c.5402A>C (p.Asn1801Thr)
c.5297A>C (p.Asp1766Ala)
c.5249A>C (p.Asp1750Ala)
c.5207A>C (p.Asp1736Ala)
 gnomAD v4
8g.132962994A>GCA372231147TGc.5468A>G (p.Asp1823Gly)
c.1A>G
c.834A>G
c.2123A>G
c.5276A>G (p.Asp1759Gly)
c.5402A>G (p.Asn1801Ser)
c.5297A>G (p.Asp1766Gly)
c.5249A>G (p.Asp1750Gly)
c.5207A>G (p.Asp1736Gly)
8g.132962994A>TCA372231152TGc.5468A>T (p.Asp1823Val)
c.1A>T
c.834A>T
c.2123A>T
c.5276A>T (p.Asp1759Val)
c.5402A>T (p.Asn1801Ile)
c.5297A>T (p.Asp1766Val)
c.5249A>T (p.Asp1750Val)
c.5207A>T (p.Asp1736Val)
8g.132962995T>ACA372231155TGc.5469T>A (p.Asp1823Glu)
c.2T>A
c.835T>A
c.2124T>A
c.5277T>A (p.Asp1759Glu)
c.5403T>A (p.Asn1801Lys)
c.5298T>A (p.Asp1766Glu)
c.5250T>A (p.Asp1750Glu)
c.5208T>A (p.Asp1736Glu)
8g.132962995T>CCA463012035TGc.5469T>C (p.Asp1823=)
c.2T>C
c.835T>C
c.2124T>C
c.5277T>C (p.Asp1759=)
c.5403T>C (p.Asn1801=)
c.5298T>C (p.Asp1766=)
c.5250T>C (p.Asp1750=)
c.5208T>C (p.Asp1736=)
8g.132962995T>GCA372231157TGc.5469T>G (p.Asp1823Glu)
c.2T>G
c.835T>G
c.2124T>G
c.5277T>G (p.Asp1759Glu)
c.5403T>G (p.Asn1801Lys)
c.5298T>G (p.Asp1766Glu)
c.5250T>G (p.Asp1750Glu)
c.5208T>G (p.Asp1736Glu)
8g.132962996T>ACA372231160TGc.5470T>A (p.Ser1824Thr)
c.3T>A
c.836T>A
c.2125T>A
c.5278T>A (p.Ser1760Thr)
c.5404T>A (p.Ser1802Thr)
c.5299T>A (p.Ser1767Thr)
c.5251T>A (p.Ser1751Thr)
c.5209T>A (p.Ser1737Thr)
8g.132962996T>CCA372231162TGc.5470T>C (p.Ser1824Pro)
c.3T>C
c.836T>C
c.2125T>C
c.5278T>C (p.Ser1760Pro)
c.5404T>C (p.Ser1802Pro)
c.5299T>C (p.Ser1767Pro)
c.5251T>C (p.Ser1751Pro)
c.5209T>C (p.Ser1737Pro)
8g.132962996T>GCA372231165TGc.5470T>G (p.Ser1824Ala)
c.3T>G
c.836T>G
c.2125T>G
c.5278T>G (p.Ser1760Ala)
c.5404T>G (p.Ser1802Ala)
c.5299T>G (p.Ser1767Ala)
c.5251T>G (p.Ser1751Ala)
c.5209T>G (p.Ser1737Ala)
8g.132962997C>ACA372231168TGc.5471C>A (p.Ser1824Tyr)
c.4C>A
c.837C>A
c.2126C>A
c.5279C>A (p.Ser1760Tyr)
c.5405C>A (p.Ser1802Tyr)
c.5300C>A (p.Ser1767Tyr)
c.5252C>A (p.Ser1751Tyr)
c.5210C>A (p.Ser1737Tyr)
8g.132962997C>GCA372231171TGc.5471C>G (p.Ser1824Cys)
c.4C>G
c.837C>G
c.2126C>G
c.5279C>G (p.Ser1760Cys)
c.5405C>G (p.Ser1802Cys)
c.5300C>G (p.Ser1767Cys)
c.5252C>G (p.Ser1751Cys)
c.5210C>G (p.Ser1737Cys)
8g.132962997C>TCA372231174TGc.5471C>T (p.Ser1824Phe)
c.4C>T
c.837C>T
c.2126C>T
c.5279C>T (p.Ser1760Phe)
c.5405C>T (p.Ser1802Phe)
c.5300C>T (p.Ser1767Phe)
c.5252C>T (p.Ser1751Phe)
c.5210C>T (p.Ser1737Phe)
8g.132962998T>ACA463012038TGc.5472T>A (p.Ser1824=)
c.5T>A
c.838T>A
c.2127T>A
c.5280T>A (p.Ser1760=)
c.5406T>A (p.Ser1802=)
c.5301T>A (p.Ser1767=)
c.5253T>A (p.Ser1751=)
c.5211T>A (p.Ser1737=)
8g.132962998T>CCA463012041TGc.5472T>C (p.Ser1824=)
c.5T>C
c.838T>C
c.2127T>C
c.5280T>C (p.Ser1760=)
c.5406T>C (p.Ser1802=)
c.5301T>C (p.Ser1767=)
c.5253T>C (p.Ser1751=)
c.5211T>C (p.Ser1737=)
8g.132962998T>GCA463012040TGc.5472T>G (p.Ser1824=)
c.5T>G
c.838T>G
c.2127T>G
c.5280T>G (p.Ser1760=)
c.5406T>G (p.Ser1802=)
c.5301T>G (p.Ser1767=)
c.5253T>G (p.Ser1751=)
c.5211T>G (p.Ser1737=)
8g.132962999G>ACA372231182TGc.5473G>A (p.Asp1825Asn)
c.6G>A
c.839G>A
c.2128G>A
c.5281G>A (p.Asp1761Asn)
c.5407G>A (p.Asp1803Asn)
c.5302G>A (p.Asp1768Asn)
c.5254G>A (p.Asp1752Asn)
c.5212G>A (p.Asp1738Asn)
8g.132962999G>CCA372231180TGc.5473G>C (p.Asp1825His)
c.6G>C
c.839G>C
c.2128G>C
c.5281G>C (p.Asp1761His)
c.5407G>C (p.Asp1803His)
c.5302G>C (p.Asp1768His)
c.5254G>C (p.Asp1752His)
c.5212G>C (p.Asp1738His)
 dbSNP gnomAD v3 gnomAD v4
8g.132962999G=CA1821029246TGc.5473G= (p.Asp1825=)
c.6G=
c.839G=
c.2128G=
c.5281G= (p.Asp1761=)
c.5407G= (p.Asp1803=)
c.5302G= (p.Asp1768=)
c.5254G= (p.Asp1752=)
c.5212G= (p.Asp1738=)
8g.132962999G>TCA372231177TGc.5473G>T (p.Asp1825Tyr)
c.6G>T
c.839G>T
c.2128G>T
c.5281G>T (p.Asp1761Tyr)
c.5407G>T (p.Asp1803Tyr)
c.5302G>T (p.Asp1768Tyr)
c.5254G>T (p.Asp1752Tyr)
c.5212G>T (p.Asp1738Tyr)
 COSMIC
8g.132963000A=CA1821029247TGc.5474A= (p.Asp1825=)
c.7A=
c.840A=
c.2129A=
c.5282A= (p.Asp1761=)
c.5408A= (p.Asp1803=)
c.5303A= (p.Asp1768=)
c.5255A= (p.Asp1752=)
c.5213A= (p.Asp1738=)
8g.132963000A>CCA372231184TGc.5474A>C (p.Asp1825Ala)
c.7A>C
c.840A>C
c.2129A>C
c.5282A>C (p.Asp1761Ala)
c.5408A>C (p.Asp1803Ala)
c.5303A>C (p.Asp1768Ala)
c.5255A>C (p.Asp1752Ala)
c.5213A>C (p.Asp1738Ala)
8g.132963000A>GCA372231190TGc.5474A>G (p.Asp1825Gly)
c.7A>G
c.840A>G
c.2129A>G
c.5282A>G (p.Asp1761Gly)
c.5408A>G (p.Asp1803Gly)
c.5303A>G (p.Asp1768Gly)
c.5255A>G (p.Asp1752Gly)
c.5213A>G (p.Asp1738Gly)
8g.132963000A>TCA372231187TGc.5474A>T (p.Asp1825Val)
c.7A>T
c.840A>T
c.2129A>T
c.5282A>T (p.Asp1761Val)
c.5408A>T (p.Asp1803Val)
c.5303A>T (p.Asp1768Val)
c.5255A>T (p.Asp1752Val)
c.5213A>T (p.Asp1738Val)
8g.132963001C>ACA372231193TGc.5475C>A (p.Asp1825Glu)
c.8C>A
c.841C>A
c.2130C>A
c.5283C>A (p.Asp1761Glu)
c.5409C>A (p.Asp1803Glu)
c.5304C>A (p.Asp1768Glu)
c.5256C>A (p.Asp1752Glu)
c.5214C>A (p.Asp1738Glu)
8g.132963001C=CA1821029248TGc.5475C= (p.Asp1825=)
c.8C=
c.841C=
c.2130C=
c.5283C= (p.Asp1761=)
c.5409C= (p.Asp1803=)
c.5304C= (p.Asp1768=)
c.5256C= (p.Asp1752=)
c.5214C= (p.Asp1738=)
8g.132963001C>GCA372231197TGc.5475C>G (p.Asp1825Glu)
c.8C>G
c.841C>G
c.2130C>G
c.5283C>G (p.Asp1761Glu)
c.5409C>G (p.Asp1803Glu)
c.5304C>G (p.Asp1768Glu)
c.5256C>G (p.Asp1752Glu)
c.5214C>G (p.Asp1738Glu)
8g.132963001C>TCA463012045TGc.5475C>T (p.Asp1825=)
c.8C>T
c.841C>T
c.2130C>T
c.5283C>T (p.Asp1761=)
c.5409C>T (p.Asp1803=)
c.5304C>T (p.Asp1768=)
c.5256C>T (p.Asp1752=)
c.5214C>T (p.Asp1738=)
 dbSNP gnomAD v2
8g.132963001_132963002insTCCA584923274TGc.5475_5476insTC (p.Met1826SerfsTer27)
c.8_9insTC
c.841_842insTC
c.2130_2131insTC
c.5283_5284insTC (p.Met1762SerfsTer27)
c.5409_5410insTC (p.Met1804SerfsTer27)
c.5304_5305insTC (p.Met1769SerfsTer27)
c.5256_5257insTC (p.Met1753SerfsTer27)
c.5214_5215insTC (p.Met1739SerfsTer27)
 dbSNP gnomAD v2 gnomAD v4
8g.132963002A=CA1821029250TGc.5476A= (p.Met1826=)
c.9A=
c.842A=
c.2131A=
c.5284A= (p.Met1762=)
c.5410A= (p.Met1804=)
c.5305A= (p.Met1769=)
c.5257A= (p.Met1753=)
c.5215A= (p.Met1739=)
8g.132963002A>CCA372231199TGc.5476A>C (p.Met1826Leu)
c.9A>C
c.842A>C
c.2131A>C
c.5284A>C (p.Met1762Leu)
c.5410A>C (p.Met1804Leu)
c.5305A>C (p.Met1769Leu)
c.5257A>C (p.Met1753Leu)
c.5215A>C (p.Met1739Leu)
8g.132963002A>GCA4884533TGc.5476A>G (p.Met1826Val)
c.9A>G
c.842A>G
c.2131A>G
c.5284A>G (p.Met1762Val)
c.5410A>G (p.Met1804Val)
c.5305A>G (p.Met1769Val)
c.5257A>G (p.Met1753Val)
c.5215A>G (p.Met1739Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132963002A>TCA372231201TGc.5476A>T (p.Met1826Leu)
c.9A>T
c.842A>T
c.2131A>T
c.5284A>T (p.Met1762Leu)
c.5410A>T (p.Met1804Leu)
c.5305A>T (p.Met1769Leu)
c.5257A>T (p.Met1753Leu)
c.5215A>T (p.Met1739Leu)
 dbSNP gnomAD v2 gnomAD v4
8g.132963002_132963004delinsATGCA1821029249TGc.5476_5478delinsATG (p.Met1826=)
c.9_11delinsATG
c.842_844delinsATG
c.2131_2133delinsATG
c.5284_5286delinsATG (p.Met1762=)
c.5410_5412delinsATG (p.Met1804=)
c.5305_5307delinsATG (p.Met1769=)
c.5257_5259delinsATG (p.Met1753=)
c.5215_5217delinsATG (p.Met1739=)
8g.132963003T>ACA372231204TGc.5477T>A (p.Met1826Lys)
c.10T>A
c.843T>A
c.2132T>A
c.5285T>A (p.Met1762Lys)
c.5411T>A (p.Met1804Lys)
c.5306T>A (p.Met1769Lys)
c.5258T>A (p.Met1753Lys)
c.5216T>A (p.Met1739Lys)
8g.132963003T>CCA372231206TGc.5477T>C (p.Met1826Thr)
c.10T>C
c.843T>C
c.2132T>C
c.5285T>C (p.Met1762Thr)
c.5411T>C (p.Met1804Thr)
c.5306T>C (p.Met1769Thr)
c.5258T>C (p.Met1753Thr)
c.5216T>C (p.Met1739Thr)
8g.132963003T>GCA372231209TGc.5477T>G (p.Met1826Arg)
c.10T>G
c.843T>G
c.2132T>G
c.5285T>G (p.Met1762Arg)
c.5411T>G (p.Met1804Arg)
c.5306T>G (p.Met1769Arg)
c.5258T>G (p.Met1753Arg)
c.5216T>G (p.Met1739Arg)
8g.132963003_132963004delCA584923275TGc.5477_5478del (p.Met1826ArgfsTer5)
c.10_11del
c.843_844del
c.2132_2133del
c.5285_5286del (p.Met1762ArgfsTer5)
c.5411_5412del (p.Met1804ArgfsTer5)
c.5306_5307del (p.Met1769ArgfsTer5)
c.5258_5259del (p.Met1753ArgfsTer5)
c.5216_5217del (p.Met1739ArgfsTer5)
 dbSNP gnomAD v2 gnomAD v4
8g.132963004G>ACA372231212TGc.5478G>A (p.Met1826Ile)
c.11G>A
c.844G>A
c.2133G>A
c.5286G>A (p.Met1762Ile)
c.5412G>A (p.Met1804Ile)
c.5307G>A (p.Met1769Ile)
c.5259G>A (p.Met1753Ile)
c.5217G>A (p.Met1739Ile)
8g.132963004G>CCA372231216TGc.5478G>C (p.Met1826Ile)
c.11G>C
c.844G>C
c.2133G>C
c.5286G>C (p.Met1762Ile)
c.5412G>C (p.Met1804Ile)
c.5307G>C (p.Met1769Ile)
c.5259G>C (p.Met1753Ile)
c.5217G>C (p.Met1739Ile)
8g.132963004G>TCA372231219TGc.5478G>T (p.Met1826Ile)
c.11G>T
c.844G>T
c.2133G>T
c.5286G>T (p.Met1762Ile)
c.5412G>T (p.Met1804Ile)
c.5307G>T (p.Met1769Ile)
c.5259G>T (p.Met1753Ile)
c.5217G>T (p.Met1739Ile)
8g.132963005G>ACA372231227TGc.5479G>A (p.Gly1827Arg)
c.12G>A
c.845G>A
c.2134G>A
c.5287G>A (p.Gly1763Arg)
c.5413G>A (p.Gly1805Arg)
c.5308G>A (p.Gly1770Arg)
c.5260G>A (p.Gly1754Arg)
c.5218G>A (p.Gly1740Arg)
 COSMIC
8g.132963005G>CCA372231221TGc.5479G>C (p.Gly1827Arg)
c.12G>C
c.845G>C
c.2134G>C
c.5287G>C (p.Gly1763Arg)
c.5413G>C (p.Gly1805Arg)
c.5308G>C (p.Gly1770Arg)
c.5260G>C (p.Gly1754Arg)
c.5218G>C (p.Gly1740Arg)
 gnomAD v4
8g.132963005G>TCA372231224TGc.5479G>T (p.Gly1827Trp)
c.12G>T
c.845G>T
c.2134G>T
c.5287G>T (p.Gly1763Trp)
c.5413G>T (p.Gly1805Trp)
c.5308G>T (p.Gly1770Trp)
c.5260G>T (p.Gly1754Trp)
c.5218G>T (p.Gly1740Trp)
8g.132963006G>ACA372231228TGc.5480G>A (p.Gly1827Glu)
c.13G>A
c.846G>A
c.2135G>A
c.5288G>A (p.Gly1763Glu)
c.5414G>A (p.Gly1805Glu)
c.5309G>A (p.Gly1770Glu)
c.5261G>A (p.Gly1754Glu)
c.5219G>A (p.Gly1740Glu)
8g.132963006G>CCA372231229TGc.5480G>C (p.Gly1827Ala)
c.13G>C
c.846G>C
c.2135G>C
c.5288G>C (p.Gly1763Ala)
c.5414G>C (p.Gly1805Ala)
c.5309G>C (p.Gly1770Ala)
c.5261G>C (p.Gly1754Ala)
c.5219G>C (p.Gly1740Ala)
 dbSNP
8g.132963006G=CA1821029251TGc.5480G= (p.Gly1827=)
c.13G=
c.846G=
c.2135G=
c.5288G= (p.Gly1763=)
c.5414G= (p.Gly1805=)
c.5309G= (p.Gly1770=)
c.5261G= (p.Gly1754=)
c.5219G= (p.Gly1740=)
8g.132963006G>TCA372231230TGc.5480G>T (p.Gly1827Val)
c.13G>T
c.846G>T
c.2135G>T
c.5288G>T (p.Gly1763Val)
c.5414G>T (p.Gly1805Val)
c.5309G>T (p.Gly1770Val)
c.5261G>T (p.Gly1754Val)
c.5219G>T (p.Gly1740Val)
8g.132963007G>ACA463012049TGc.5481G>A (p.Gly1827=)
c.14G>A
c.847G>A
c.2136G>A
c.5289G>A (p.Gly1763=)
c.5415G>A (p.Gly1805=)
c.5310G>A (p.Gly1770=)
c.5262G>A (p.Gly1754=)
c.5220G>A (p.Gly1740=)
 gnomAD v4
8g.132963007G>CCA463012050TGc.5481G>C (p.Gly1827=)
c.14G>C
c.847G>C
c.2136G>C
c.5289G>C (p.Gly1763=)
c.5415G>C (p.Gly1805=)
c.5310G>C (p.Gly1770=)
c.5262G>C (p.Gly1754=)
c.5220G>C (p.Gly1740=)
8g.132963007G=CA1821029252TGc.5481G= (p.Gly1827=)
c.14G=
c.847G=
c.2136G=
c.5289G= (p.Gly1763=)
c.5415G= (p.Gly1805=)
c.5310G= (p.Gly1770=)
c.5262G= (p.Gly1754=)
c.5220G= (p.Gly1740=)
8g.132963007G>TCA463012051TGc.5481G>T (p.Gly1827=)
c.14G>T
c.847G>T
c.2136G>T
c.5289G>T (p.Gly1763=)
c.5415G>T (p.Gly1805=)
c.5310G>T (p.Gly1770=)
c.5262G>T (p.Gly1754=)
c.5220G>T (p.Gly1740=)
 ClinVar dbSNP gnomAD v4
8g.132963008T>ACA372231232TGc.5482T>A (p.Ser1828Thr)
c.15T>A
c.848T>A
c.2137T>A
c.5290T>A (p.Ser1764Thr)
c.5416T>A (p.Ser1806Thr)
c.5311T>A (p.Ser1771Thr)
c.5263T>A (p.Ser1755Thr)
c.5221T>A (p.Ser1741Thr)
8g.132963008T>CCA372231234TGc.5482T>C (p.Ser1828Pro)
c.15T>C
c.848T>C
c.2137T>C
c.5290T>C (p.Ser1764Pro)
c.5416T>C (p.Ser1806Pro)
c.5311T>C (p.Ser1771Pro)
c.5263T>C (p.Ser1755Pro)
c.5221T>C (p.Ser1741Pro)
8g.132963008T>GCA372231235TGc.5482T>G (p.Ser1828Ala)
c.15T>G
c.848T>G
c.2137T>G
c.5290T>G (p.Ser1764Ala)
c.5416T>G (p.Ser1806Ala)
c.5311T>G (p.Ser1771Ala)
c.5263T>G (p.Ser1755Ala)
c.5221T>G (p.Ser1741Ala)
8g.132963009C>ACA372231239TGc.5483C>A (p.Ser1828Tyr)
c.16C>A
c.849C>A
c.2138C>A
c.5291C>A (p.Ser1764Tyr)
c.5417C>A (p.Ser1806Tyr)
c.5312C>A (p.Ser1771Tyr)
c.5264C>A (p.Ser1755Tyr)
c.5222C>A (p.Ser1741Tyr)
8g.132963009C>GCA372231240TGc.5483C>G (p.Ser1828Cys)
c.16C>G
c.849C>G
c.2138C>G
c.5291C>G (p.Ser1764Cys)
c.5417C>G (p.Ser1806Cys)
c.5312C>G (p.Ser1771Cys)
c.5264C>G (p.Ser1755Cys)
c.5222C>G (p.Ser1741Cys)
 gnomAD v4
8g.132963009C>TCA372231241TGc.5483C>T (p.Ser1828Phe)
c.16C>T
c.849C>T
c.2138C>T
c.5291C>T (p.Ser1764Phe)
c.5417C>T (p.Ser1806Phe)
c.5312C>T (p.Ser1771Phe)
c.5264C>T (p.Ser1755Phe)
c.5222C>T (p.Ser1741Phe)
8g.132963010T>ACA463012053TGc.5484T>A (p.Ser1828=)
c.17T>A
c.850T>A
c.2139T>A
c.5292T>A (p.Ser1764=)
c.5418T>A (p.Ser1806=)
c.5313T>A (p.Ser1771=)
c.5265T>A (p.Ser1755=)
c.5223T>A (p.Ser1741=)
8g.132963010T>CCA463012056TGc.5484T>C (p.Ser1828=)
c.17T>C
c.850T>C
c.2139T>C
c.5292T>C (p.Ser1764=)
c.5418T>C (p.Ser1806=)
c.5313T>C (p.Ser1771=)
c.5265T>C (p.Ser1755=)
c.5223T>C (p.Ser1741=)
 gnomAD v4
8g.132963010T>GCA463012055TGc.5484T>G (p.Ser1828=)
c.17T>G
c.850T>G
c.2139T>G
c.5292T>G (p.Ser1764=)
c.5418T>G (p.Ser1806=)
c.5313T>G (p.Ser1771=)
c.5265T>G (p.Ser1755=)
c.5223T>G (p.Ser1741=)
8g.132963011C>ACA463012057TGc.5485C>A (p.Arg1829=)
c.18C>A
c.851C>A
c.2140C>A
c.5293C>A (p.Arg1765=)
c.5419C>A (p.Arg1807=)
c.5314C>A (p.Arg1772=)
c.5266C>A (p.Arg1756=)
c.5224C>A (p.Arg1742=)
 COSMIC
8g.132963011C=CA1821029253TGc.5485C= (p.Arg1829=)
c.18C=
c.851C=
c.2140C=
c.5293C= (p.Arg1765=)
c.5419C= (p.Arg1807=)
c.5314C= (p.Arg1772=)
c.5266C= (p.Arg1756=)
c.5224C= (p.Arg1742=)
8g.132963011C>GCA372231242TGc.5485C>G (p.Arg1829Gly)
c.18C>G
c.851C>G
c.2140C>G
c.5293C>G (p.Arg1765Gly)
c.5419C>G (p.Arg1807Gly)
c.5314C>G (p.Arg1772Gly)
c.5266C>G (p.Arg1756Gly)
c.5224C>G (p.Arg1742Gly)
8g.132963011C>TCA4884534TGc.5485C>T (p.Arg1829Trp)
c.18C>T
c.851C>T
c.2140C>T
c.5293C>T (p.Arg1765Trp)
c.5419C>T (p.Arg1807Trp)
c.5314C>T (p.Arg1772Trp)
c.5266C>T (p.Arg1756Trp)
c.5224C>T (p.Arg1742Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132963012G>ACA4884535TGc.5486G>A (p.Arg1829Gln)
c.19G>A
c.852G>A
c.2141G>A
c.5294G>A (p.Arg1765Gln)
c.5420G>A (p.Arg1807Gln)
c.5315G>A (p.Arg1772Gln)
c.5267G>A (p.Arg1756Gln)
c.5225G>A (p.Arg1742Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132963012G>CCA372231249TGc.5486G>C (p.Arg1829Pro)
c.19G>C
c.852G>C
c.2141G>C
c.5294G>C (p.Arg1765Pro)
c.5420G>C (p.Arg1807Pro)
c.5315G>C (p.Arg1772Pro)
c.5267G>C (p.Arg1756Pro)
c.5225G>C (p.Arg1742Pro)
8g.132963012G=CA1821029254TGc.5486G= (p.Arg1829=)
c.19G=
c.852G=
c.2141G=
c.5294G= (p.Arg1765=)
c.5420G= (p.Arg1807=)
c.5315G= (p.Arg1772=)
c.5267G= (p.Arg1756=)
c.5225G= (p.Arg1742=)
8g.132963012G>TCA372231245TGc.5486G>T (p.Arg1829Leu)
c.19G>T
c.852G>T
c.2141G>T
c.5294G>T (p.Arg1765Leu)
c.5420G>T (p.Arg1807Leu)
c.5315G>T (p.Arg1772Leu)
c.5267G>T (p.Arg1756Leu)
c.5225G>T (p.Arg1742Leu)
8g.132963013G>ACA463012058TGc.5487G>A (p.Arg1829=)
c.20G>A
c.853G>A
c.2142G>A
c.5295G>A (p.Arg1765=)
c.5421G>A (p.Arg1807=)
c.5316G>A (p.Arg1772=)
c.5268G>A (p.Arg1756=)
c.5226G>A (p.Arg1742=)
 gnomAD v4
8g.132963013G>CCA463012059TGc.5487G>C (p.Arg1829=)
c.20G>C
c.853G>C
c.2142G>C
c.5295G>C (p.Arg1765=)
c.5421G>C (p.Arg1807=)
c.5316G>C (p.Arg1772=)
c.5268G>C (p.Arg1756=)
c.5226G>C (p.Arg1742=)
8g.132963013G>TCA463012060TGc.5487G>T (p.Arg1829=)
c.20G>T
c.853G>T
c.2142G>T
c.5295G>T (p.Arg1765=)
c.5421G>T (p.Arg1807=)
c.5316G>T (p.Arg1772=)
c.5268G>T (p.Arg1756=)
c.5226G>T (p.Arg1742=)
8g.132963014C>ACA372231253TGc.5488C>A (p.Pro1830Thr)
c.21C>A
c.854C>A
c.2143C>A
c.5296C>A (p.Pro1766Thr)
c.5422C>A (p.Pro1808Thr)
c.5317C>A (p.Pro1773Thr)
c.5269C>A (p.Pro1757Thr)
c.5227C>A (p.Pro1743Thr)
8g.132963014C>GCA372231255TGc.5488C>G (p.Pro1830Ala)
c.21C>G
c.854C>G
c.2143C>G
c.5296C>G (p.Pro1766Ala)
c.5422C>G (p.Pro1808Ala)
c.5317C>G (p.Pro1773Ala)
c.5269C>G (p.Pro1757Ala)
c.5227C>G (p.Pro1743Ala)
8g.132963014C>TCA372231256TGc.5488C>T (p.Pro1830Ser)
c.21C>T
c.854C>T
c.2143C>T
c.5296C>T (p.Pro1766Ser)
c.5422C>T (p.Pro1808Ser)
c.5317C>T (p.Pro1773Ser)
c.5269C>T (p.Pro1757Ser)
c.5227C>T (p.Pro1743Ser)
8g.132963015C>ACA372231259TGc.5489C>A (p.Pro1830His)
c.22C>A
c.855C>A
c.2144C>A
c.5297C>A (p.Pro1766His)
c.5423C>A (p.Pro1808His)
c.5318C>A (p.Pro1773His)
c.5270C>A (p.Pro1757His)
c.5228C>A (p.Pro1743His)
8g.132963015C=CA1821029255TGc.5489C= (p.Pro1830=)
c.22C=
c.855C=
c.2144C=
c.5297C= (p.Pro1766=)
c.5423C= (p.Pro1808=)
c.5318C= (p.Pro1773=)
c.5270C= (p.Pro1757=)
c.5228C= (p.Pro1743=)
8g.132963015C>GCA372231260TGc.5489C>G (p.Pro1830Arg)
c.22C>G
c.855C>G
c.2144C>G
c.5297C>G (p.Pro1766Arg)
c.5423C>G (p.Pro1808Arg)
c.5318C>G (p.Pro1773Arg)
c.5270C>G (p.Pro1757Arg)
c.5228C>G (p.Pro1743Arg)
8g.132963015C>TCA372231262TGc.5489C>T (p.Pro1830Leu)
c.22C>T
c.855C>T
c.2144C>T
c.5297C>T (p.Pro1766Leu)
c.5423C>T (p.Pro1808Leu)
c.5318C>T (p.Pro1773Leu)
c.5270C>T (p.Pro1757Leu)
c.5228C>T (p.Pro1743Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.132963016T>ACA463012064TGc.5490T>A (p.Pro1830=)
c.23T>A
c.856T>A
c.2145T>A
c.5298T>A (p.Pro1766=)
c.5424T>A (p.Pro1808=)
c.5319T>A (p.Pro1773=)
c.5271T>A (p.Pro1757=)
c.5229T>A (p.Pro1743=)
8g.132963016T>CCA463012065TGc.5490T>C (p.Pro1830=)
c.23T>C
c.856T>C
c.2145T>C
c.5298T>C (p.Pro1766=)
c.5424T>C (p.Pro1808=)
c.5319T>C (p.Pro1773=)
c.5271T>C (p.Pro1757=)
c.5229T>C (p.Pro1743=)
8g.132963016T>GCA463012066TGc.5490T>G (p.Pro1830=)
c.23T>G
c.856T>G
c.2145T>G
c.5298T>G (p.Pro1766=)
c.5424T>G (p.Pro1808=)
c.5319T>G (p.Pro1773=)
c.5271T>G (p.Pro1757=)
c.5229T>G (p.Pro1743=)
 gnomAD v4
8g.132963017G>ACA372231269TGc.5491G>A (p.Glu1831Lys)
c.24G>A
c.857G>A
c.2146G>A
c.5299G>A (p.Glu1767Lys)
c.5425G>A (p.Glu1809Lys)
c.5320G>A (p.Glu1774Lys)
c.5272G>A (p.Glu1758Lys)
c.5230G>A (p.Glu1744Lys)
8g.132963017G>CCA372231265TGc.5491G>C (p.Glu1831Gln)
c.24G>C
c.857G>C
c.2146G>C
c.5299G>C (p.Glu1767Gln)
c.5425G>C (p.Glu1809Gln)
c.5320G>C (p.Glu1774Gln)
c.5272G>C (p.Glu1758Gln)
c.5230G>C (p.Glu1744Gln)
 dbSNP gnomAD v2 gnomAD v4
8g.132963017G=CA1821029256TGc.5491G= (p.Glu1831=)
c.24G=
c.857G=
c.2146G=
c.5299G= (p.Glu1767=)
c.5425G= (p.Glu1809=)
c.5320G= (p.Glu1774=)
c.5272G= (p.Glu1758=)
c.5230G= (p.Glu1744=)
8g.132963017G>TCA372231267TGc.5491G>T (p.Glu1831Ter)
c.24G>T
c.857G>T
c.2146G>T
c.5299G>T (p.Glu1767Ter)
c.5425G>T (p.Glu1809Ter)
c.5320G>T (p.Glu1774Ter)
c.5272G>T (p.Glu1758Ter)
c.5230G>T (p.Glu1744Ter)
8g.132963018A>CCA372231273TGc.5492A>C (p.Glu1831Ala)
c.25A>C
c.858A>C
c.2147A>C
c.5300A>C (p.Glu1767Ala)
c.5426A>C (p.Glu1809Ala)
c.5321A>C (p.Glu1774Ala)
c.5273A>C (p.Glu1758Ala)
c.5231A>C (p.Glu1744Ala)
8g.132963018A>GCA372231275TGc.5492A>G (p.Glu1831Gly)
c.25A>G
c.858A>G
c.2147A>G
c.5300A>G (p.Glu1767Gly)
c.5426A>G (p.Glu1809Gly)
c.5321A>G (p.Glu1774Gly)
c.5273A>G (p.Glu1758Gly)
c.5231A>G (p.Glu1744Gly)
8g.132963018A>TCA372231277TGc.5492A>T (p.Glu1831Val)
c.25A>T
c.858A>T
c.2147A>T
c.5300A>T (p.Glu1767Val)
c.5426A>T (p.Glu1809Val)
c.5321A>T (p.Glu1774Val)
c.5273A>T (p.Glu1758Val)
c.5231A>T (p.Glu1744Val)
8g.132963019G>ACA463012067TGc.5493G>A (p.Glu1831=)
c.26G>A
c.859G>A
c.2148G>A
c.5301G>A (p.Glu1767=)
c.5427G>A (p.Glu1809=)
c.5322G>A (p.Glu1774=)
c.5274G>A (p.Glu1758=)
c.5232G>A (p.Glu1744=)
8g.132963019G>CCA372231279TGc.5493G>C (p.Glu1831Asp)
c.26G>C
c.859G>C
c.2148G>C
c.5301G>C (p.Glu1767Asp)
c.5427G>C (p.Glu1809Asp)
c.5322G>C (p.Glu1774Asp)
c.5274G>C (p.Glu1758Asp)
c.5232G>C (p.Glu1744Asp)
8g.132963019G>TCA372231281TGc.5493G>T (p.Glu1831Asp)
c.26G>T
c.859G>T
c.2148G>T
c.5301G>T (p.Glu1767Asp)
c.5427G>T (p.Glu1809Asp)
c.5322G>T (p.Glu1774Asp)
c.5274G>T (p.Glu1758Asp)
c.5232G>T (p.Glu1744Asp)
8g.132963020T>ACA372231285TGc.5494T>A (p.Ser1832Thr)
c.27T>A
c.860T>A
c.2149T>A
c.5302T>A (p.Ser1768Thr)
c.5428T>A (p.Ser1810Thr)
c.5323T>A (p.Ser1775Thr)
c.5275T>A (p.Ser1759Thr)
c.5233T>A (p.Ser1745Thr)
8g.132963020T>CCA372231292TGc.5494T>C (p.Ser1832Pro)
c.27T>C
c.860T>C
c.2149T>C
c.5302T>C (p.Ser1768Pro)
c.5428T>C (p.Ser1810Pro)
c.5323T>C (p.Ser1775Pro)
c.5275T>C (p.Ser1759Pro)
c.5233T>C (p.Ser1745Pro)
8g.132963020T>GCA372231289TGc.5494T>G (p.Ser1832Ala)
c.27T>G
c.860T>G
c.2149T>G
c.5302T>G (p.Ser1768Ala)
c.5428T>G (p.Ser1810Ala)
c.5323T>G (p.Ser1775Ala)
c.5275T>G (p.Ser1759Ala)
c.5233T>G (p.Ser1745Ala)
8g.132963021C>ACA372231295TGc.5495C>A (p.Ser1832Tyr)
c.28C>A
c.861C>A
c.2150C>A
c.5303C>A (p.Ser1768Tyr)
c.5429C>A (p.Ser1810Tyr)
c.5324C>A (p.Ser1775Tyr)
c.5276C>A (p.Ser1759Tyr)
c.5234C>A (p.Ser1745Tyr)
8g.132963021C>GCA372231297TGc.5495C>G (p.Ser1832Cys)
c.28C>G
c.861C>G
c.2150C>G
c.5303C>G (p.Ser1768Cys)
c.5429C>G (p.Ser1810Cys)
c.5324C>G (p.Ser1775Cys)
c.5276C>G (p.Ser1759Cys)
c.5234C>G (p.Ser1745Cys)
8g.132963021C>TCA372231299TGc.5495C>T (p.Ser1832Phe)
c.28C>T
c.861C>T
c.2150C>T
c.5303C>T (p.Ser1768Phe)
c.5429C>T (p.Ser1810Phe)
c.5324C>T (p.Ser1775Phe)
c.5276C>T (p.Ser1759Phe)
c.5234C>T (p.Ser1745Phe)
8g.132963022T>ACA463012071TGc.5496T>A (p.Ser1832=)
c.29T>A
c.862T>A
c.2151T>A
c.5304T>A (p.Ser1768=)
c.5430T>A (p.Ser1810=)
c.5325T>A (p.Ser1775=)
c.5277T>A (p.Ser1759=)
c.5235T>A (p.Ser1745=)
8g.132963022T>CCA463012072TGc.5496T>C (p.Ser1832=)
c.29T>C
c.862T>C
c.2151T>C
c.5304T>C (p.Ser1768=)
c.5430T>C (p.Ser1810=)
c.5325T>C (p.Ser1775=)
c.5277T>C (p.Ser1759=)
c.5235T>C (p.Ser1745=)
8g.132963022T>GCA463012073TGc.5496T>G (p.Ser1832=)
c.29T>G
c.862T>G
c.2151T>G
c.5304T>G (p.Ser1768=)
c.5430T>G (p.Ser1810=)
c.5325T>G (p.Ser1775=)
c.5277T>G (p.Ser1759=)
c.5235T>G (p.Ser1745=)
8g.132963023A=CA1821029257TGc.5497A= (p.Met1833=)
c.30A=
c.863A=
c.2152A=
c.5305A= (p.Met1769=)
c.5431A= (p.Met1811=)
c.5326A= (p.Met1776=)
c.5278A= (p.Met1760=)
c.5236A= (p.Met1746=)
8g.132963023A>CCA372231301TGc.5497A>C (p.Met1833Leu)
c.30A>C
c.863A>C
c.2152A>C
c.5305A>C (p.Met1769Leu)
c.5431A>C (p.Met1811Leu)
c.5326A>C (p.Met1776Leu)
c.5278A>C (p.Met1760Leu)
c.5236A>C (p.Met1746Leu)
8g.132963023A>GCA4884536TGc.5497A>G (p.Met1833Val)
c.30A>G
c.863A>G
c.2152A>G
c.5305A>G (p.Met1769Val)
c.5431A>G (p.Met1811Val)
c.5326A>G (p.Met1776Val)
c.5278A>G (p.Met1760Val)
c.5236A>G (p.Met1746Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132963023A>TCA372231305TGc.5497A>T (p.Met1833Leu)
c.30A>T
c.863A>T
c.2152A>T
c.5305A>T (p.Met1769Leu)
c.5431A>T (p.Met1811Leu)
c.5326A>T (p.Met1776Leu)
c.5278A>T (p.Met1760Leu)
c.5236A>T (p.Met1746Leu)
8g.132963024T>ACA372231308TGc.5498T>A (p.Met1833Lys)
c.31T>A
c.864T>A
c.2153T>A
c.5306T>A (p.Met1769Lys)
c.5432T>A (p.Met1811Lys)
c.5327T>A (p.Met1776Lys)
c.5279T>A (p.Met1760Lys)
c.5237T>A (p.Met1746Lys)
 dbSNP gnomAD v2 gnomAD v4
8g.132963024T>CCA372231311TGc.5498T>C (p.Met1833Thr)
c.31T>C
c.864T>C
c.2153T>C
c.5306T>C (p.Met1769Thr)
c.5432T>C (p.Met1811Thr)
c.5327T>C (p.Met1776Thr)
c.5279T>C (p.Met1760Thr)
c.5237T>C (p.Met1746Thr)
8g.132963024T>GCA372231314TGc.5498T>G (p.Met1833Arg)
c.31T>G
c.864T>G
c.2153T>G
c.5306T>G (p.Met1769Arg)
c.5432T>G (p.Met1811Arg)
c.5327T>G (p.Met1776Arg)
c.5279T>G (p.Met1760Arg)
c.5237T>G (p.Met1746Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.132963024T=CA1821029258TGc.5498T= (p.Met1833=)
c.31T=
c.864T=
c.2153T=
c.5306T= (p.Met1769=)
c.5432T= (p.Met1811=)
c.5327T= (p.Met1776=)
c.5279T= (p.Met1760=)
c.5237T= (p.Met1746=)
8g.132963025G>ACA372231316TGc.5499G>A (p.Met1833Ile)
c.32G>A
c.865G>A
c.2154G>A
c.5307G>A (p.Met1769Ile)
c.5433G>A (p.Met1811Ile)
c.5328G>A (p.Met1776Ile)
c.5280G>A (p.Met1760Ile)
c.5238G>A (p.Met1746Ile)
8g.132963025G>CCA372231318TGc.5499G>C (p.Met1833Ile)
c.32G>C
c.865G>C
c.2154G>C
c.5307G>C (p.Met1769Ile)
c.5433G>C (p.Met1811Ile)
c.5328G>C (p.Met1776Ile)
c.5280G>C (p.Met1760Ile)
c.5238G>C (p.Met1746Ile)
8g.132963025G>TCA372231323TGc.5499G>T (p.Met1833Ile)
c.32G>T
c.865G>T
c.2154G>T
c.5307G>T (p.Met1769Ile)
c.5433G>T (p.Met1811Ile)
c.5328G>T (p.Met1776Ile)
c.5280G>T (p.Met1760Ile)
c.5238G>T (p.Met1746Ile)
 COSMIC
8g.132963026G>ACA372231326TGc.5500G>A (p.Gly1834Arg)
c.33G>A
c.866G>A
c.2155G>A
c.5308G>A (p.Gly1770Arg)
c.5434G>A (p.Gly1812Arg)
c.5329G>A (p.Gly1777Arg)
c.5281G>A (p.Gly1761Arg)
c.5239G>A (p.Gly1747Arg)
 gnomAD v4
8g.132963026G>CCA372231330TGc.5500G>C (p.Gly1834Arg)
c.33G>C
c.866G>C
c.2155G>C
c.5308G>C (p.Gly1770Arg)
c.5434G>C (p.Gly1812Arg)
c.5329G>C (p.Gly1777Arg)
c.5281G>C (p.Gly1761Arg)
c.5239G>C (p.Gly1747Arg)
8g.132963026G>TCA372231328TGc.5500G>T (p.Gly1834Ter)
c.33G>T
c.866G>T
c.2155G>T
c.5308G>T (p.Gly1770Ter)
c.5434G>T (p.Gly1812Ter)
c.5329G>T (p.Gly1777Ter)
c.5281G>T (p.Gly1761Ter)
c.5239G>T (p.Gly1747Ter)
8g.132963027G>ACA372231333TGc.5501G>A (p.Gly1834Glu)
c.34G>A
c.867G>A
c.2156G>A
c.5309G>A (p.Gly1770Glu)
c.5435G>A (p.Gly1812Glu)
c.5330G>A (p.Gly1777Glu)
c.5282G>A (p.Gly1761Glu)
c.5240G>A (p.Gly1747Glu)
 dbSNP
8g.132963027G>CCA186288660TGc.5501G>C (p.Gly1834Ala)
c.34G>C
c.867G>C
c.2156G>C
c.5309G>C (p.Gly1770Ala)
c.5435G>C (p.Gly1812Ala)
c.5330G>C (p.Gly1777Ala)
c.5282G>C (p.Gly1761Ala)
c.5240G>C (p.Gly1747Ala)
 dbSNP gnomAD v3 gnomAD v4
8g.132963027G=CA1821029259TGc.5501G= (p.Gly1834=)
c.34G=
c.867G=
c.2156G=
c.5309G= (p.Gly1770=)
c.5435G= (p.Gly1812=)
c.5330G= (p.Gly1777=)
c.5282G= (p.Gly1761=)
c.5240G= (p.Gly1747=)
8g.132963027G>TCA372231336TGc.5501G>T (p.Gly1834Val)
c.34G>T
c.867G>T
c.2156G>T
c.5309G>T (p.Gly1770Val)
c.5435G>T (p.Gly1812Val)
c.5330G>T (p.Gly1777Val)
c.5282G>T (p.Gly1761Val)
c.5240G>T (p.Gly1747Val)
 dbSNP gnomAD v4
8g.132963028A=CA1821029260TGc.5502A= (p.Gly1834=)
c.35A=
c.868A=
c.2157A=
c.5310A= (p.Gly1770=)
c.5436A= (p.Gly1812=)
c.5331A= (p.Gly1777=)
c.5283A= (p.Gly1761=)
c.5241A= (p.Gly1747=)
8g.132963028A>CCA463012076TGc.5502A>C (p.Gly1834=)
c.35A>C
c.868A>C
c.2157A>C
c.5310A>C (p.Gly1770=)
c.5436A>C (p.Gly1812=)
c.5331A>C (p.Gly1777=)
c.5283A>C (p.Gly1761=)
c.5241A>C (p.Gly1747=)
8g.132963028A>GCA463012077TGc.5502A>G (p.Gly1834=)
c.35A>G
c.868A>G
c.2157A>G
c.5310A>G (p.Gly1770=)
c.5436A>G (p.Gly1812=)
c.5331A>G (p.Gly1777=)
c.5283A>G (p.Gly1761=)
c.5241A>G (p.Gly1747=)
 dbSNP COSMIC
8g.132963028A>TCA463012078TGc.5502A>T (p.Gly1834=)
c.35A>T
c.868A>T
c.2157A>T
c.5310A>T (p.Gly1770=)
c.5436A>T (p.Gly1812=)
c.5331A>T (p.Gly1777=)
c.5283A>T (p.Gly1761=)
c.5241A>T (p.Gly1747=)
8g.132963029T>ACA372231341TGc.5503T>A (p.Cys1835Ser)
c.36T>A
c.869T>A
c.2158T>A
c.5311T>A (p.Cys1771Ser)
c.5437T>A (p.Cys1813Ser)
c.5332T>A (p.Cys1778Ser)
c.5284T>A (p.Cys1762Ser)
c.5242T>A (p.Cys1748Ser)
 dbSNP gnomAD v3 gnomAD v4
8g.132963029T>CCA372231345TGc.5503T>C (p.Cys1835Arg)
c.36T>C
c.869T>C
c.2158T>C
c.5311T>C (p.Cys1771Arg)
c.5437T>C (p.Cys1813Arg)
c.5332T>C (p.Cys1778Arg)
c.5284T>C (p.Cys1762Arg)
c.5242T>C (p.Cys1748Arg)
8g.132963029T>GCA372231342TGc.5503T>G (p.Cys1835Gly)
c.36T>G
c.869T>G
c.2158T>G
c.5311T>G (p.Cys1771Gly)
c.5437T>G (p.Cys1813Gly)
c.5332T>G (p.Cys1778Gly)
c.5284T>G (p.Cys1762Gly)
c.5242T>G (p.Cys1748Gly)
8g.132963029T=CA1821029261TGc.5503T= (p.Cys1835=)
c.36T=
c.869T=
c.2158T=
c.5311T= (p.Cys1771=)
c.5437T= (p.Cys1813=)
c.5332T= (p.Cys1778=)
c.5284T= (p.Cys1762=)
c.5242T= (p.Cys1748=)
8g.132963030G>ACA372231347TGc.5504G>A (p.Cys1835Tyr)
c.37G>A
c.870G>A
c.2159G>A
c.5312G>A (p.Cys1771Tyr)
c.5438G>A (p.Cys1813Tyr)
c.5333G>A (p.Cys1778Tyr)
c.5285G>A (p.Cys1762Tyr)
c.5243G>A (p.Cys1748Tyr)
 gnomAD v4
8g.132963030G>CCA372231352TGc.5504G>C (p.Cys1835Ser)
c.37G>C
c.870G>C
c.2159G>C
c.5312G>C (p.Cys1771Ser)
c.5438G>C (p.Cys1813Ser)
c.5333G>C (p.Cys1778Ser)
c.5285G>C (p.Cys1762Ser)
c.5243G>C (p.Cys1748Ser)
8g.132963030G>TCA372231349TGc.5504G>T (p.Cys1835Phe)
c.37G>T
c.870G>T
c.2159G>T
c.5312G>T (p.Cys1771Phe)
c.5438G>T (p.Cys1813Phe)
c.5333G>T (p.Cys1778Phe)
c.5285G>T (p.Cys1762Phe)
c.5243G>T (p.Cys1748Phe)
8g.132963031T>ACA372231355TGc.5505T>A (p.Cys1835Ter)
c.38T>A
c.871T>A
c.2160T>A
c.5313T>A (p.Cys1771Ter)
c.5439T>A (p.Cys1813Ter)
c.5334T>A (p.Cys1778Ter)
c.5286T>A (p.Cys1762Ter)
c.5244T>A (p.Cys1748Ter)
8g.132963031T>CCA463012082TGc.5505T>C (p.Cys1835=)
c.38T>C
c.871T>C
c.2160T>C
c.5313T>C (p.Cys1771=)
c.5439T>C (p.Cys1813=)
c.5334T>C (p.Cys1778=)
c.5286T>C (p.Cys1762=)
c.5244T>C (p.Cys1748=)
 dbSNP gnomAD v4
8g.132963031T>GCA372231358TGc.5505T>G (p.Cys1835Trp)
c.38T>G
c.871T>G
c.2160T>G
c.5313T>G (p.Cys1771Trp)
c.5439T>G (p.Cys1813Trp)
c.5334T>G (p.Cys1778Trp)
c.5286T>G (p.Cys1762Trp)
c.5244T>G (p.Cys1748Trp)
8g.132963031T=CA1821029262TGc.5505T= (p.Cys1835=)
c.38T=
c.871T=
c.2160T=
c.5313T= (p.Cys1771=)
c.5439T= (p.Cys1813=)
c.5334T= (p.Cys1778=)
c.5286T= (p.Cys1762=)
c.5244T= (p.Cys1748=)
8g.132963032A>CCA463012083TGc.5506A>C (p.Arg1836=)
c.39A>C
c.872A>C
c.2161A>C
c.5314A>C (p.Arg1772=)
c.5440A>C (p.Arg1814=)
c.5335A>C (p.Arg1779=)
c.5287A>C (p.Arg1763=)
c.5245A>C (p.Arg1749=)
8g.132963032A>GCA372231361TGc.5506A>G (p.Arg1836Gly)
c.39A>G
c.872A>G
c.2161A>G
c.5314A>G (p.Arg1772Gly)
c.5440A>G (p.Arg1814Gly)
c.5335A>G (p.Arg1779Gly)
c.5287A>G (p.Arg1763Gly)
c.5245A>G (p.Arg1749Gly)
8g.132963032A>TCA372231363TGc.5506A>T (p.Arg1836Ter)
c.39A>T
c.872A>T
c.2161A>T
c.5314A>T (p.Arg1772Ter)
c.5440A>T (p.Arg1814Ter)
c.5335A>T (p.Arg1779Ter)
c.5287A>T (p.Arg1763Ter)
c.5245A>T (p.Arg1749Ter)
8g.132963033G>ACA372231366TGc.5507G>A (p.Arg1836Lys)
c.40G>A
c.873G>A
c.2162G>A
c.5315G>A (p.Arg1772Lys)
c.5441G>A (p.Arg1814Lys)
c.5336G>A (p.Arg1779Lys)
c.5288G>A (p.Arg1763Lys)
c.5246G>A (p.Arg1749Lys)
8g.132963033G>CCA372231370TGc.5507G>C (p.Arg1836Thr)
c.40G>C
c.873G>C
c.2162G>C
c.5315G>C (p.Arg1772Thr)
c.5441G>C (p.Arg1814Thr)
c.5336G>C (p.Arg1779Thr)
c.5288G>C (p.Arg1763Thr)
c.5246G>C (p.Arg1749Thr)
8g.132963033G>TCA372231372TGc.5507G>T (p.Arg1836Ile)
c.40G>T
c.873G>T
c.2162G>T
c.5315G>T (p.Arg1772Ile)
c.5441G>T (p.Arg1814Ile)
c.5336G>T (p.Arg1779Ile)
c.5288G>T (p.Arg1763Ile)
c.5246G>T (p.Arg1749Ile)
8g.132963034A>CCA372231376TGc.5508A>C (p.Arg1836Ser)
c.41A>C
c.874A>C
c.2163A>C
c.5316A>C (p.Arg1772Ser)
c.5442A>C (p.Arg1814Ser)
c.5337A>C (p.Arg1779Ser)
c.5289A>C (p.Arg1763Ser)
c.5247A>C (p.Arg1749Ser)
8g.132963034A>GCA463012086TGc.5508A>G (p.Arg1836=)
c.41A>G
c.874A>G
c.2163A>G
c.5316A>G (p.Arg1772=)
c.5442A>G (p.Arg1814=)
c.5337A>G (p.Arg1779=)
c.5289A>G (p.Arg1763=)
c.5247A>G (p.Arg1749=)
8g.132963034A>TCA372231379TGc.5508A>T (p.Arg1836Ser)
c.41A>T
c.874A>T
c.2163A>T
c.5316A>T (p.Arg1772Ser)
c.5442A>T (p.Arg1814Ser)
c.5337A>T (p.Arg1779Ser)
c.5289A>T (p.Arg1763Ser)
c.5247A>T (p.Arg1749Ser)
8g.132963034_132963044delinsAAAAGACACAGCA1821029263TGc.5508_5518delinsAAAAGACACAG (p.Arg1836=)
c.41_51delinsAAAAGACACAG
c.874_884delinsAAAAGACACAG
c.2163_2173delinsAAAAGACACAG
c.5316_5326delinsAAAAGACACAG (p.Arg1772=)
c.5442_5452delinsAAAAGACACAG (p.Arg1814=)
c.5337_5347delinsAAAAGACACAG (p.Arg1779=)
c.5289_5299delinsAAAAGACACAG (p.Arg1763=)
c.5247_5257delinsAAAAGACACAG (p.Arg1749=)
8g.132963035A>CCA372231385TGc.5509A>C (p.Lys1837Gln)
c.42A>C
c.875A>C
c.2164A>C
c.5317A>C (p.Lys1773Gln)
c.5443A>C (p.Lys1815Gln)
c.5338A>C (p.Lys1780Gln)
c.5290A>C (p.Lys1764Gln)
c.5248A>C (p.Lys1750Gln)
8g.132963035A>GCA372231380TGc.5509A>G (p.Lys1837Glu)
c.42A>G
c.875A>G
c.2164A>G
c.5317A>G (p.Lys1773Glu)
c.5443A>G (p.Lys1815Glu)
c.5338A>G (p.Lys1780Glu)
c.5290A>G (p.Lys1764Glu)
c.5248A>G (p.Lys1750Glu)
8g.132963035A>TCA372231382TGc.5509A>T (p.Lys1837Ter)
c.42A>T
c.875A>T
c.2164A>T
c.5317A>T (p.Lys1773Ter)
c.5443A>T (p.Lys1815Ter)
c.5338A>T (p.Lys1780Ter)
c.5290A>T (p.Lys1764Ter)
c.5248A>T (p.Lys1750Ter)
8g.132963035_132963044delCA658797152TGc.5509_5518del (p.Lys1837CysfsTer12)
c.42_51del
c.875_884del
c.2164_2173del
c.5317_5326del (p.Lys1773CysfsTer12)
c.5443_5452del (p.Lys1815CysfsTer12)
c.5338_5347del (p.Lys1780CysfsTer12)
c.5290_5299del (p.Lys1764CysfsTer12)
c.5248_5257del (p.Lys1750CysfsTer12)
 ClinVar dbSNP gnomAD v4
8g.132963036A>CCA372231388TGc.5510A>C (p.Lys1837Thr)
c.43A>C
c.876A>C
c.2165A>C
c.5318A>C (p.Lys1773Thr)
c.5444A>C (p.Lys1815Thr)
c.5339A>C (p.Lys1780Thr)
c.5291A>C (p.Lys1764Thr)
c.5249A>C (p.Lys1750Thr)
8g.132963036A>GCA372231391TGc.5510A>G (p.Lys1837Arg)
c.43A>G
c.876A>G
c.2165A>G
c.5318A>G (p.Lys1773Arg)
c.5444A>G (p.Lys1815Arg)
c.5339A>G (p.Lys1780Arg)
c.5291A>G (p.Lys1764Arg)
c.5249A>G (p.Lys1750Arg)
8g.132963036A>TCA372231394TGc.5510A>T (p.Lys1837Ile)
c.43A>T
c.876A>T
c.2165A>T
c.5318A>T (p.Lys1773Ile)
c.5444A>T (p.Lys1815Ile)
c.5339A>T (p.Lys1780Ile)
c.5291A>T (p.Lys1764Ile)
c.5249A>T (p.Lys1750Ile)
8g.132963037A>CCA372231396TGc.5511A>C (p.Lys1837Asn)
c.44A>C
c.877A>C
c.2166A>C
c.5319A>C (p.Lys1773Asn)
c.5445A>C (p.Lys1815Asn)
c.5340A>C (p.Lys1780Asn)
c.5292A>C (p.Lys1764Asn)
c.5250A>C (p.Lys1750Asn)
8g.132963037A>GCA463012088TGc.5511A>G (p.Lys1837=)
c.44A>G
c.877A>G
c.2166A>G
c.5319A>G (p.Lys1773=)
c.5445A>G (p.Lys1815=)
c.5340A>G (p.Lys1780=)
c.5292A>G (p.Lys1764=)
c.5250A>G (p.Lys1750=)
8g.132963037A>TCA372231399TGc.5511A>T (p.Lys1837Asn)
c.44A>T
c.877A>T
c.2166A>T
c.5319A>T (p.Lys1773Asn)
c.5445A>T (p.Lys1815Asn)
c.5340A>T (p.Lys1780Asn)
c.5292A>T (p.Lys1764Asn)
c.5250A>T (p.Lys1750Asn)
8g.132963038delCA2688652479TGc.5512del (p.Asp1838ThrfsTer14)
c.45del
c.878del
c.2167del
c.5320del (p.Asp1774ThrfsTer14)
c.5446del (p.Asp1816ThrfsTer14)
c.5341del (p.Asp1781ThrfsTer14)
c.5293del (p.Asp1765ThrfsTer14)
c.5251del (p.Asp1751ThrfsTer14)
 gnomAD v4
8g.132963038G>ACA4884537TGc.5512G>A (p.Asp1838Asn)
c.45G>A
c.878G>A
c.2167G>A
c.5320G>A (p.Asp1774Asn)
c.5446G>A (p.Asp1816Asn)
c.5341G>A (p.Asp1781Asn)
c.5293G>A (p.Asp1765Asn)
c.5251G>A (p.Asp1751Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132963038G>CCA372231405TGc.5512G>C (p.Asp1838His)
c.45G>C
c.878G>C
c.2167G>C
c.5320G>C (p.Asp1774His)
c.5446G>C (p.Asp1816His)
c.5341G>C (p.Asp1781His)
c.5293G>C (p.Asp1765His)
c.5251G>C (p.Asp1751His)
8g.132963038G=CA1821029264TGc.5512G= (p.Asp1838=)
c.45G=
c.878G=
c.2167G=
c.5320G= (p.Asp1774=)
c.5446G= (p.Asp1816=)
c.5341G= (p.Asp1781=)
c.5293G= (p.Asp1765=)
c.5251G= (p.Asp1751=)
8g.132963038G>TCA372231403TGc.5512G>T (p.Asp1838Tyr)
c.45G>T
c.878G>T
c.2167G>T
c.5320G>T (p.Asp1774Tyr)
c.5446G>T (p.Asp1816Tyr)
c.5341G>T (p.Asp1781Tyr)
c.5293G>T (p.Asp1765Tyr)
c.5251G>T (p.Asp1751Tyr)
8g.132963039A=CA1821029265TGc.5513A= (p.Asp1838=)
c.46A=
c.879A=
c.2168A=
c.5321A= (p.Asp1774=)
c.5447A= (p.Asp1816=)
c.5342A= (p.Asp1781=)
c.5294A= (p.Asp1765=)
c.5252A= (p.Asp1751=)
8g.132963039A>CCA372231408TGc.5513A>C (p.Asp1838Ala)
c.46A>C
c.879A>C
c.2168A>C
c.5321A>C (p.Asp1774Ala)
c.5447A>C (p.Asp1816Ala)
c.5342A>C (p.Asp1781Ala)
c.5294A>C (p.Asp1765Ala)
c.5252A>C (p.Asp1751Ala)
 gnomAD v4
8g.132963039A>GCA4884538TGc.5513A>G (p.Asp1838Gly)
c.46A>G
c.879A>G
c.2168A>G
c.5321A>G (p.Asp1774Gly)
c.5447A>G (p.Asp1816Gly)
c.5342A>G (p.Asp1781Gly)
c.5294A>G (p.Asp1765Gly)
c.5252A>G (p.Asp1751Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132963039A>TCA372231413TGc.5513A>T (p.Asp1838Val)
c.46A>T
c.879A>T
c.2168A>T
c.5321A>T (p.Asp1774Val)
c.5447A>T (p.Asp1816Val)
c.5342A>T (p.Asp1781Val)
c.5294A>T (p.Asp1765Val)
c.5252A>T (p.Asp1751Val)
8g.132963040delCA2688652480TGc.5514del (p.Asp1838GlufsTer14)
c.47del
c.880del
c.2169del
c.5322del (p.Asp1774GlufsTer14)
c.5448del (p.Asp1816GlufsTer14)
c.5343del (p.Asp1781GlufsTer14)
c.5295del (p.Asp1765GlufsTer14)
c.5253del (p.Asp1751GlufsTer14)
 gnomAD v4
8g.132963040C>ACA372231425TGc.5514C>A (p.Asp1838Glu)
c.47C>A
c.880C>A
c.2169C>A
c.5322C>A (p.Asp1774Glu)
c.5448C>A (p.Asp1816Glu)
c.5343C>A (p.Asp1781Glu)
c.5295C>A (p.Asp1765Glu)
c.5253C>A (p.Asp1751Glu)
8g.132963040C>GCA372231428TGc.5514C>G (p.Asp1838Glu)
c.47C>G
c.880C>G
c.2169C>G
c.5322C>G (p.Asp1774Glu)
c.5448C>G (p.Asp1816Glu)
c.5343C>G (p.Asp1781Glu)
c.5295C>G (p.Asp1765Glu)
c.5253C>G (p.Asp1751Glu)
 gnomAD v4
8g.132963040C>TCA463012090TGc.5514C>T (p.Asp1838=)
c.47C>T
c.880C>T
c.2169C>T
c.5322C>T (p.Asp1774=)
c.5448C>T (p.Asp1816=)
c.5343C>T (p.Asp1781=)
c.5295C>T (p.Asp1765=)
c.5253C>T (p.Asp1751=)
 ClinVar
8g.132963041A>CCA372231430TGc.5515A>C (p.Thr1839Pro)
c.48A>C
c.881A>C
c.2170A>C
c.5323A>C (p.Thr1775Pro)
c.5449A>C (p.Thr1817Pro)
c.5344A>C (p.Thr1782Pro)
c.5296A>C (p.Thr1766Pro)
c.5254A>C (p.Thr1752Pro)
8g.132963041A>GCA372231431TGc.5515A>G (p.Thr1839Ala)
c.48A>G
c.881A>G
c.2170A>G
c.5323A>G (p.Thr1775Ala)
c.5449A>G (p.Thr1817Ala)
c.5344A>G (p.Thr1782Ala)
c.5296A>G (p.Thr1766Ala)
c.5254A>G (p.Thr1752Ala)
8g.132963041A>TCA372231435TGc.5515A>T (p.Thr1839Ser)
c.48A>T
c.881A>T
c.2170A>T
c.5323A>T (p.Thr1775Ser)
c.5449A>T (p.Thr1817Ser)
c.5344A>T (p.Thr1782Ser)
c.5296A>T (p.Thr1766Ser)
c.5254A>T (p.Thr1752Ser)
8g.132963042C>ACA4884539TGc.5516C>A (p.Thr1839Lys)
c.49C>A
c.882C>A
c.2171C>A
c.5324C>A (p.Thr1775Lys)
c.5450C>A (p.Thr1817Lys)
c.5345C>A (p.Thr1782Lys)
c.5297C>A (p.Thr1766Lys)
c.5255C>A (p.Thr1752Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132963042C=CA1821029266TGc.5516C= (p.Thr1839=)
c.49C=
c.882C=
c.2171C=
c.5324C= (p.Thr1775=)
c.5450C= (p.Thr1817=)
c.5345C= (p.Thr1782=)
c.5297C= (p.Thr1766=)
c.5255C= (p.Thr1752=)
8g.132963042C>GCA372231444TGc.5516C>G (p.Thr1839Arg)
c.49C>G
c.882C>G
c.2171C>G
c.5324C>G (p.Thr1775Arg)
c.5450C>G (p.Thr1817Arg)
c.5345C>G (p.Thr1782Arg)
c.5297C>G (p.Thr1766Arg)
c.5255C>G (p.Thr1752Arg)
 dbSNP
8g.132963042C>TCA372231447TGc.5516C>T (p.Thr1839Ile)
c.49C>T
c.882C>T
c.2171C>T
c.5324C>T (p.Thr1775Ile)
c.5450C>T (p.Thr1817Ile)
c.5345C>T (p.Thr1782Ile)
c.5297C>T (p.Thr1766Ile)
c.5255C>T (p.Thr1752Ile)
 dbSNP gnomAD v4
8g.132963043A=CA1821029267TGc.5517A= (p.Thr1839=)
c.50A=
c.883A=
c.2172A=
c.5325A= (p.Thr1775=)
c.5451A= (p.Thr1817=)
c.5346A= (p.Thr1782=)
c.5298A= (p.Thr1766=)
c.5256A= (p.Thr1752=)
8g.132963043A>CCA463012096TGc.5517A>C (p.Thr1839=)
c.50A>C
c.883A>C
c.2172A>C
c.5325A>C (p.Thr1775=)
c.5451A>C (p.Thr1817=)
c.5346A>C (p.Thr1782=)
c.5298A>C (p.Thr1766=)
c.5256A>C (p.Thr1752=)
 dbSNP gnomAD v2 gnomAD v4
8g.132963043A>GCA463012095TGc.5517A>G (p.Thr1839=)
c.50A>G
c.883A>G
c.2172A>G
c.5325A>G (p.Thr1775=)
c.5451A>G (p.Thr1817=)
c.5346A>G (p.Thr1782=)
c.5298A>G (p.Thr1766=)
c.5256A>G (p.Thr1752=)
 ClinVar gnomAD v4
8g.132963043A>TCA463012093TGc.5517A>T (p.Thr1839=)
c.50A>T
c.883A>T
c.2172A>T
c.5325A>T (p.Thr1775=)
c.5451A>T (p.Thr1817=)
c.5346A>T (p.Thr1782=)
c.5298A>T (p.Thr1766=)
c.5256A>T (p.Thr1752=)
8g.132963044G>ACA186288680TGc.5518G>A (p.Val1840Met)
c.51G>A
c.884G>A
c.2173G>A
c.5326G>A (p.Val1776Met)
c.5452G>A (p.Val1818Met)
c.5347G>A (p.Val1783Met)
c.5299G>A (p.Val1767Met)
c.5257G>A (p.Val1753Met)
 dbSNP gnomAD v2 gnomAD v4
8g.132963044G>CCA372231451TGc.5518G>C (p.Val1840Leu)
c.51G>C
c.884G>C
c.2173G>C
c.5326G>C (p.Val1776Leu)
c.5452G>C (p.Val1818Leu)
c.5347G>C (p.Val1783Leu)
c.5299G>C (p.Val1767Leu)
c.5257G>C (p.Val1753Leu)
 gnomAD v4
8g.132963044G=CA1821029268TGc.5518G= (p.Val1840=)
c.51G=
c.884G=
c.2173G=
c.5326G= (p.Val1776=)
c.5452G= (p.Val1818=)
c.5347G= (p.Val1783=)
c.5299G= (p.Val1767=)
c.5257G= (p.Val1753=)
8g.132963044G>TCA372231450TGc.5518G>T (p.Val1840Leu)
c.51G>T
c.884G>T
c.2173G>T
c.5326G>T (p.Val1776Leu)
c.5452G>T (p.Val1818Leu)
c.5347G>T (p.Val1783Leu)
c.5299G>T (p.Val1767Leu)
c.5257G>T (p.Val1753Leu)
8g.132963045T>ACA372231456TGc.5519T>A (p.Val1840Glu)
c.52T>A
c.885T>A
c.2174T>A
c.5327T>A (p.Val1776Glu)
c.5453T>A (p.Val1818Glu)
c.5348T>A (p.Val1783Glu)
c.5300T>A (p.Val1767Glu)
c.5258T>A (p.Val1753Glu)
 gnomAD v4
8g.132963045T>CCA372231458TGc.5519T>C (p.Val1840Ala)
c.52T>C
c.885T>C
c.2174T>C
c.5327T>C (p.Val1776Ala)
c.5453T>C (p.Val1818Ala)
c.5348T>C (p.Val1783Ala)
c.5300T>C (p.Val1767Ala)
c.5258T>C (p.Val1753Ala)
 dbSNP gnomAD v3 gnomAD v4
8g.132963045T>GCA372231460TGc.5519T>G (p.Val1840Gly)
c.52T>G
c.885T>G
c.2174T>G
c.5327T>G (p.Val1776Gly)
c.5453T>G (p.Val1818Gly)
c.5348T>G (p.Val1783Gly)
c.5300T>G (p.Val1767Gly)
c.5258T>G (p.Val1753Gly)
8g.132963045T=CA1821029269TGc.5519T= (p.Val1840=)
c.52T=
c.885T=
c.2174T=
c.5327T= (p.Val1776=)
c.5453T= (p.Val1818=)
c.5348T= (p.Val1783=)
c.5300T= (p.Val1767=)
c.5258T= (p.Val1753=)
8g.132963046G>ACA463012100TGc.5520G>A (p.Val1840=)
c.53G>A
c.886G>A
c.2175G>A
c.5328G>A (p.Val1776=)
c.5454G>A (p.Val1818=)
c.5349G>A (p.Val1783=)
c.5301G>A (p.Val1767=)
c.5259G>A (p.Val1753=)
8g.132963046G>CCA463012097TGc.5520G>C (p.Val1840=)
c.53G>C
c.886G>C
c.2175G>C
c.5328G>C (p.Val1776=)
c.5454G>C (p.Val1818=)
c.5349G>C (p.Val1783=)
c.5301G>C (p.Val1767=)
c.5259G>C (p.Val1753=)
8g.132963046G>TCA463012099TGc.5520G>T (p.Val1840=)
c.53G>T
c.886G>T
c.2175G>T
c.5328G>T (p.Val1776=)
c.5454G>T (p.Val1818=)
c.5349G>T (p.Val1783=)
c.5301G>T (p.Val1767=)
c.5259G>T (p.Val1753=)

Number of alleles fetched