Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.116022399A>TCA2621147592MED13Lc.625+57T>A (n.625+57T>A)
c.595+57T>A (n.595+57T>A)
c.53+57T>A
c.535+57T>A (n.535+57T>A)
n.389+57T>A
 gnomAD v4
12g.116022400G>TCA2842260822MED13Lc.625+56C>A (n.625+56C>A)
c.595+56C>A (n.595+56C>A)
c.53+56C>A
c.535+56C>A (n.535+56C>A)
n.389+56C>A
12g.116022403G>ACA684022882MED13Lc.625+53C>T (n.625+53C>T)
c.595+53C>T (n.595+53C>T)
c.53+53C>T
c.535+53C>T (n.535+53C>T)
n.389+53C>T
 dbSNP gnomAD v4
12g.116022403G=CA2065398348MED13Lc.625+53C= (n.625+53C=)
c.595+53C= (n.595+53C=)
c.53+53C=
c.535+53C= (n.535+53C=)
n.389+53C=
12g.116022403G>TCA2849048593MED13Lc.625+53C>A (n.625+53C>A)
c.595+53C>A (n.595+53C>A)
c.53+53C>A
c.535+53C>A (n.535+53C>A)
n.389+53C>A
12g.116022404G>ACA684022884MED13Lc.625+52C>T (n.625+52C>T)
c.595+52C>T (n.595+52C>T)
c.53+52C>T
c.535+52C>T (n.535+52C>T)
n.389+52C>T
 dbSNP gnomAD v3 gnomAD v4
12g.116022404G=CA2065398354MED13Lc.625+52C= (n.625+52C=)
c.595+52C= (n.595+52C=)
c.53+52C=
c.535+52C= (n.535+52C=)
n.389+52C=
12g.116022404G>TCA2065398356MED13Lc.625+52C>A (n.625+52C>A)
c.595+52C>A (n.595+52C>A)
c.53+52C>A
c.535+52C>A (n.535+52C>A)
n.389+52C>A
 dbSNP gnomAD v4
12g.116022406T>CCA6811618MED13Lc.625+50A>G (n.625+50A>G)
c.595+50A>G (n.595+50A>G)
c.53+50A>G
c.535+50A>G (n.535+50A>G)
n.389+50A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.116022406T=CA2065398362MED13Lc.625+50A= (n.625+50A=)
c.595+50A= (n.595+50A=)
c.53+50A=
c.535+50A= (n.535+50A=)
n.389+50A=
12g.116022407delCA2575306977MED13Lc.625+49del (n.625+49del)
c.595+49del (n.595+49del)
c.53+49del
c.535+49del (n.535+49del)
n.389+49del
12g.116022408T>CCA2621147593MED13Lc.625+48A>G (n.625+48A>G)
c.595+48A>G (n.595+48A>G)
c.53+48A>G
c.535+48A>G (n.535+48A>G)
n.389+48A>G
 gnomAD v4
12g.116022409C=CA2065398365MED13Lc.625+47G= (n.625+47G=)
c.595+47G= (n.595+47G=)
c.53+47G=
c.535+47G= (n.535+47G=)
n.389+47G=
12g.116022409C>TCA684022886MED13Lc.625+47G>A (n.625+47G>A)
c.595+47G>A (n.595+47G>A)
c.53+47G>A
c.535+47G>A (n.535+47G>A)
n.389+47G>A
 dbSNP gnomAD v3 gnomAD v4
12g.116022411A>GCA2621147594MED13Lc.625+45T>C (n.625+45T>C)
c.595+45T>C (n.595+45T>C)
c.53+45T>C
c.535+45T>C (n.535+45T>C)
n.389+45T>C
 gnomAD v4
12g.116022412C=CA2065398370MED13Lc.625+44G= (n.625+44G=)
c.595+44G= (n.595+44G=)
c.53+44G=
c.535+44G= (n.535+44G=)
n.389+44G=
12g.116022412C>TCA6811619MED13Lc.625+44G>A (n.625+44G>A)
c.595+44G>A (n.595+44G>A)
c.53+44G>A
c.535+44G>A (n.535+44G>A)
n.389+44G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.116022413T>CCA2621147595MED13Lc.625+43A>G (n.625+43A>G)
c.595+43A>G (n.595+43A>G)
c.53+43A>G
c.535+43A>G (n.535+43A>G)
n.389+43A>G
 gnomAD v4
12g.116022413T>GCA2621147596MED13Lc.625+43A>C (n.625+43A>C)
c.595+43A>C (n.595+43A>C)
c.53+43A>C
c.535+43A>C (n.535+43A>C)
n.389+43A>C
 gnomAD v4
12g.116022414C>ACA2575306978MED13Lc.625+42G>T (n.625+42G>T)
c.595+42G>T (n.595+42G>T)
c.53+42G>T
c.535+42G>T (n.535+42G>T)
n.389+42G>T
 gnomAD v4
12g.116022414C=CA2065398377MED13Lc.625+42G= (n.625+42G=)
c.595+42G= (n.595+42G=)
c.53+42G=
c.535+42G= (n.535+42G=)
n.389+42G=
12g.116022414C>TCA6811620MED13Lc.625+42G>A (n.625+42G>A)
c.595+42G>A (n.595+42G>A)
c.53+42G>A
c.535+42G>A (n.535+42G>A)
n.389+42G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.116022415G>ACA6811621MED13Lc.625+41C>T (n.625+41C>T)
c.595+41C>T (n.595+41C>T)
c.53+41C>T
c.535+41C>T (n.535+41C>T)
n.389+41C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.116022415G>CCA2581104249MED13Lc.625+41C>G (n.625+41C>G)
c.595+41C>G (n.595+41C>G)
c.53+41C>G
c.535+41C>G (n.535+41C>G)
n.389+41C>G
12g.116022415G=CA2065398384MED13Lc.625+41C= (n.625+41C=)
c.595+41C= (n.595+41C=)
c.53+41C=
c.535+41C= (n.535+41C=)
n.389+41C=
12g.116022415G>TCA2065398387MED13Lc.625+41C>A (n.625+41C>A)
c.595+41C>A (n.595+41C>A)
c.53+41C>A
c.535+41C>A (n.535+41C>A)
n.389+41C>A
 dbSNP gnomAD v4
12g.116022417T>CCA684022888MED13Lc.625+39A>G (n.625+39A>G)
c.595+39A>G (n.595+39A>G)
c.53+39A>G
c.535+39A>G (n.535+39A>G)
n.389+39A>G
 dbSNP
12g.116022417T=CA2065398389MED13Lc.625+39A= (n.625+39A=)
c.595+39A= (n.595+39A=)
c.53+39A=
c.535+39A= (n.535+39A=)
n.389+39A=
12g.116022418G>ACA684022889MED13Lc.625+38C>T (n.625+38C>T)
c.595+38C>T (n.595+38C>T)
c.53+38C>T
c.535+38C>T (n.535+38C>T)
n.389+38C>T
 dbSNP gnomAD v3 gnomAD v4
12g.116022418G=CA2065398394MED13Lc.625+38C= (n.625+38C=)
c.595+38C= (n.595+38C=)
c.53+38C=
c.535+38C= (n.535+38C=)
n.389+38C=
12g.116022420C=CA2065398395MED13Lc.625+36G= (n.625+36G=)
c.595+36G= (n.595+36G=)
c.53+36G=
c.535+36G= (n.535+36G=)
n.389+36G=
12g.116022420C>TCA6811622MED13Lc.625+36G>A (n.625+36G>A)
c.595+36G>A (n.595+36G>A)
c.53+36G>A
c.535+36G>A (n.535+36G>A)
n.389+36G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.116022420_116022425delinsCGGATACA2065398397MED13Lc.625+31_625+36delinsTATCCG (n.625+31_625+36delinsTATCCG)
c.595+31_595+36delinsTATCCG (n.595+31_595+36delinsTATCCG)
c.53+31_53+36delinsTATCCG
c.535+31_535+36delinsTATCCG (n.535+31_535+36delinsTATCCG)
n.389+31_389+36delinsTATCCG
12g.116022421G>ACA607642551MED13Lc.625+35C>T (n.625+35C>T)
c.595+35C>T (n.595+35C>T)
c.53+35C>T
c.535+35C>T (n.535+35C>T)
n.389+35C>T
 dbSNP gnomAD v2 gnomAD v4
12g.116022421G>CCA684022896MED13Lc.625+35C>G (n.625+35C>G)
c.595+35C>G (n.595+35C>G)
c.53+35C>G
c.535+35C>G (n.535+35C>G)
n.389+35C>G
 dbSNP
12g.116022421G=CA2065398402MED13Lc.625+35C= (n.625+35C=)
c.595+35C= (n.595+35C=)
c.53+35C=
c.535+35C= (n.535+35C=)
n.389+35C=
12g.116022423_116022427delCA684022893MED13Lc.625+31_625+35del (n.625+31_625+35del)
c.595+31_595+35del (n.595+31_595+35del)
c.53+31_53+35del
c.535+31_535+35del (n.535+31_535+35del)
n.389+31_389+35del
 dbSNP gnomAD v3 gnomAD v4
12g.116022422G>ACA2065398431MED13Lc.625+34C>T (n.625+34C>T)
c.595+34C>T (n.595+34C>T)
c.53+34C>T
c.535+34C>T (n.535+34C>T)
n.389+34C>T
 dbSNP
12g.116022422G=CA2065398408MED13Lc.625+34C= (n.625+34C=)
c.595+34C= (n.595+34C=)
c.53+34C=
c.535+34C= (n.535+34C=)
n.389+34C=
12g.116022422G>TCA6811623MED13Lc.625+34C>A (n.625+34C>A)
c.595+34C>A (n.595+34C>A)
c.53+34C>A
c.535+34C>A (n.535+34C>A)
n.389+34C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.116022423A>TCA2621147597MED13Lc.625+33T>A (n.625+33T>A)
c.595+33T>A (n.595+33T>A)
c.53+33T>A
c.535+33T>A (n.535+33T>A)
n.389+33T>A
 gnomAD v4
12g.116022424T>CCA6811625MED13Lc.625+32A>G (n.625+32A>G)
c.595+32A>G (n.595+32A>G)
c.53+32A>G
c.535+32A>G (n.535+32A>G)
n.389+32A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.116022424T=CA2065398441MED13Lc.625+32A= (n.625+32A=)
c.595+32A= (n.595+32A=)
c.53+32A=
c.535+32A= (n.535+32A=)
n.389+32A=
12g.116022424_116022425delinsTACA2065398437MED13Lc.625+31_625+32delinsTA (n.625+31_625+32delinsTA)
c.595+31_595+32delinsTA (n.595+31_595+32delinsTA)
c.53+31_53+32delinsTA
c.535+31_535+32delinsTA (n.535+31_535+32delinsTA)
n.389+31_389+32delinsTA
12g.116022425delCA6811624MED13Lc.625+31del (n.625+31del)
c.595+31del (n.595+31del)
c.53+31del
c.535+31del (n.535+31del)
n.389+31del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.116022425A>CCA2621147598MED13Lc.625+31T>G (n.625+31T>G)
c.595+31T>G (n.595+31T>G)
c.53+31T>G
c.535+31T>G (n.535+31T>G)
n.389+31T>G
 gnomAD v4
12g.116022425A>GCA2621147599MED13Lc.625+31T>C (n.625+31T>C)
c.595+31T>C (n.595+31T>C)
c.53+31T>C
c.535+31T>C (n.535+31T>C)
n.389+31T>C
 gnomAD v4
12g.116022425_116022426delinsAGCA2065398448MED13Lc.625+30_625+31delinsCT (n.625+30_625+31delinsCT)
c.595+30_595+31delinsCT (n.595+30_595+31delinsCT)
c.53+30_53+31delinsCT
c.535+30_535+31delinsCT (n.535+30_535+31delinsCT)
n.389+30_389+31delinsCT
12g.116022426G>ACA2621147600MED13Lc.625+30C>T (n.625+30C>T)
c.595+30C>T (n.595+30C>T)
c.53+30C>T
c.535+30C>T (n.535+30C>T)
n.389+30C>T
 gnomAD v4
12g.116022426G>CCA244129578MED13Lc.625+30C>G (n.625+30C>G)
c.595+30C>G (n.595+30C>G)
c.53+30C>G
c.535+30C>G (n.535+30C>G)
n.389+30C>G
 dbSNP
12g.116022426G=CA2065398458MED13Lc.625+30C= (n.625+30C=)
c.595+30C= (n.595+30C=)
c.53+30C=
c.535+30C= (n.535+30C=)
n.389+30C=
12g.116022429delCA6811626MED13Lc.625+30del (n.625+30del)
c.595+30del (n.595+30del)
c.53+30del
c.535+30del (n.535+30del)
n.389+30del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.116022427G>ACA607642555MED13Lc.625+29C>T (n.625+29C>T)
c.595+29C>T (n.595+29C>T)
c.53+29C>T
c.535+29C>T (n.535+29C>T)
n.389+29C>T
 dbSNP gnomAD v2 gnomAD v4
12g.116022427G=CA2065398466MED13Lc.625+29C= (n.625+29C=)
c.595+29C= (n.595+29C=)
c.53+29C=
c.535+29C= (n.535+29C=)
n.389+29C=
12g.116022427G>TCA607642556MED13Lc.625+29C>A (n.625+29C>A)
c.595+29C>A (n.595+29C>A)
c.53+29C>A
c.535+29C>A (n.535+29C>A)
n.389+29C>A
 dbSNP gnomAD v2 gnomAD v4
12g.116022428G>ACA2575306979MED13Lc.625+28C>T (n.625+28C>T)
c.595+28C>T (n.595+28C>T)
c.53+28C>T
c.535+28C>T (n.535+28C>T)
n.389+28C>T
 gnomAD v4
12g.116022428G>CCA2621147601MED13Lc.625+28C>G (n.625+28C>G)
c.595+28C>G (n.595+28C>G)
c.53+28C>G
c.535+28C>G (n.535+28C>G)
n.389+28C>G
 gnomAD v4
12g.116022428G>TCA2575306980MED13Lc.625+28C>A (n.625+28C>A)
c.595+28C>A (n.595+28C>A)
c.53+28C>A
c.535+28C>A (n.535+28C>A)
n.389+28C>A
12g.116022429G>ACA2621147602MED13Lc.625+27C>T (n.625+27C>T)
c.595+27C>T (n.595+27C>T)
c.53+27C>T
c.535+27C>T (n.535+27C>T)
n.389+27C>T
 gnomAD v4
12g.116022429G=CA2065398468MED13Lc.625+27C= (n.625+27C=)
c.595+27C= (n.595+27C=)
c.53+27C=
c.535+27C= (n.535+27C=)
n.389+27C=
12g.116022429G>TCA607642557MED13Lc.625+27C>A (n.625+27C>A)
c.595+27C>A (n.595+27C>A)
c.53+27C>A
c.535+27C>A (n.535+27C>A)
n.389+27C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.116022430T>GCA2065398471MED13Lc.625+26A>C (n.625+26A>C)
c.595+26A>C (n.595+26A>C)
c.53+26A>C
c.535+26A>C (n.535+26A>C)
n.389+26A>C
 dbSNP
12g.116022430T=CA2065398469MED13Lc.625+26A= (n.625+26A=)
c.595+26A= (n.595+26A=)
c.53+26A=
c.535+26A= (n.535+26A=)
n.389+26A=
12g.116022431G>ACA6811627MED13Lc.625+25C>T (n.625+25C>T)
c.595+25C>T (n.595+25C>T)
c.53+25C>T
c.535+25C>T (n.535+25C>T)
n.389+25C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.116022431G=CA2065398476MED13Lc.625+25C= (n.625+25C=)
c.595+25C= (n.595+25C=)
c.53+25C=
c.535+25C= (n.535+25C=)
n.389+25C=
12g.116022432G>CCA6811628MED13Lc.625+24C>G (n.625+24C>G)
c.595+24C>G (n.595+24C>G)
c.53+24C>G
c.535+24C>G (n.535+24C>G)
n.389+24C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.116022432G=CA2065398480MED13Lc.625+24C= (n.625+24C=)
c.595+24C= (n.595+24C=)
c.53+24C=
c.535+24C= (n.535+24C=)
n.389+24C=
12g.116022433A>GCA2832557994MED13Lc.625+23T>C (n.625+23T>C)
c.595+23T>C (n.595+23T>C)
c.53+23T>C
c.535+23T>C (n.535+23T>C)
n.389+23T>C
12g.116022433A>TCA2575306981MED13Lc.625+23T>A (n.625+23T>A)
c.595+23T>A (n.595+23T>A)
c.53+23T>A
c.535+23T>A (n.535+23T>A)
n.389+23T>A
 gnomAD v4
12g.116022434G>ACA2621147604MED13Lc.625+22C>T (n.625+22C>T)
c.595+22C>T (n.595+22C>T)
c.53+22C>T
c.535+22C>T (n.535+22C>T)
n.389+22C>T
 gnomAD v4
12g.116022434G>CCA2065398485MED13Lc.625+22C>G (n.625+22C>G)
c.595+22C>G (n.595+22C>G)
c.53+22C>G
c.535+22C>G (n.535+22C>G)
n.389+22C>G
 dbSNP
12g.116022434G=CA2065398482MED13Lc.625+22C= (n.625+22C=)
c.595+22C= (n.595+22C=)
c.53+22C=
c.535+22C= (n.535+22C=)
n.389+22C=
12g.116022435delCA2797590884MED13Lc.625+21del (n.625+21del)
c.595+21del (n.595+21del)
c.53+21del
c.535+21del (n.535+21del)
n.389+21del
12g.116022435A>GCA2575306982MED13Lc.625+21T>C (n.625+21T>C)
c.595+21T>C (n.595+21T>C)
c.53+21T>C
c.535+21T>C (n.535+21T>C)
n.389+21T>C
12g.116022436G=CA2065398505MED13Lc.625+20C= (n.625+20C=)
c.595+20C= (n.595+20C=)
c.53+20C=
c.535+20C= (n.535+20C=)
n.389+20C=
12g.116022436G>TCA607642558MED13Lc.625+20C>A (n.625+20C>A)
c.595+20C>A (n.595+20C>A)
c.53+20C>A
c.535+20C>A (n.535+20C>A)
n.389+20C>A
 dbSNP gnomAD v2 gnomAD v4
12g.116022437C>GCA2575306983MED13Lc.625+19G>C (n.625+19G>C)
c.595+19G>C (n.595+19G>C)
c.53+19G>C
c.535+19G>C (n.535+19G>C)
n.389+19G>C
12g.116022437C>TCA2575306984MED13Lc.625+19G>A (n.625+19G>A)
c.595+19G>A (n.595+19G>A)
c.53+19G>A
c.535+19G>A (n.535+19G>A)
n.389+19G>A
 dbSNP gnomAD v3 gnomAD v4
12g.116022439G>ACA2575306985MED13Lc.625+17C>T (n.625+17C>T)
c.595+17C>T (n.595+17C>T)
c.53+17C>T
c.535+17C>T (n.535+17C>T)
n.389+17C>T
12g.116022439G>CCA2621147606MED13Lc.625+17C>G (n.625+17C>G)
c.595+17C>G (n.595+17C>G)
c.53+17C>G
c.535+17C>G (n.535+17C>G)
n.389+17C>G
 gnomAD v4
12g.116022440delCA2621147605MED13Lc.625+17del (n.625+17del)
c.595+17del (n.595+17del)
c.53+17del
c.535+17del (n.535+17del)
n.389+17del
 gnomAD v4
12g.116022440G>ACA684022906MED13Lc.625+16C>T (n.625+16C>T)
c.595+16C>T (n.595+16C>T)
c.53+16C>T
c.535+16C>T (n.535+16C>T)
n.389+16C>T
 dbSNP gnomAD v4
12g.116022440G>CCA6811629MED13Lc.625+16C>G (n.625+16C>G)
c.595+16C>G (n.595+16C>G)
c.53+16C>G
c.535+16C>G (n.535+16C>G)
n.389+16C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.116022440G=CA2065398510MED13Lc.625+16C= (n.625+16C=)
c.595+16C= (n.595+16C=)
c.53+16C=
c.535+16C= (n.535+16C=)
n.389+16C=
12g.116022440G>TCA2575306986MED13Lc.625+16C>A (n.625+16C>A)
c.595+16C>A (n.595+16C>A)
c.53+16C>A
c.535+16C>A (n.535+16C>A)
n.389+16C>A
 gnomAD v4
12g.116022441A=CA2065398517MED13Lc.625+15T= (n.625+15T=)
c.595+15T= (n.595+15T=)
c.53+15T=
c.535+15T= (n.535+15T=)
n.389+15T=
12g.116022441A>CCA6811630MED13Lc.625+15T>G (n.625+15T>G)
c.595+15T>G (n.595+15T>G)
c.53+15T>G
c.535+15T>G (n.535+15T>G)
n.389+15T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.116022443C>ACA6811631MED13Lc.625+13G>T (n.625+13G>T)
c.595+13G>T (n.595+13G>T)
c.53+13G>T
c.535+13G>T (n.535+13G>T)
n.389+13G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.116022443C=CA2065398523MED13Lc.625+13G= (n.625+13G=)
c.595+13G= (n.595+13G=)
c.53+13G=
c.535+13G= (n.535+13G=)
n.389+13G=
12g.116022443C>TCA607642561MED13Lc.625+13G>A (n.625+13G>A)
c.595+13G>A (n.595+13G>A)
c.53+13G>A
c.535+13G>A (n.535+13G>A)
n.389+13G>A
 dbSNP gnomAD v2 gnomAD v4
12g.116022444A=CA2065398530MED13Lc.625+12T= (n.625+12T=)
c.595+12T= (n.595+12T=)
c.53+12T=
c.535+12T= (n.535+12T=)
n.389+12T=
12g.116022444A>GCA607642562MED13Lc.625+12T>C (n.625+12T>C)
c.595+12T>C (n.595+12T>C)
c.53+12T>C
c.535+12T>C (n.535+12T>C)
n.389+12T>C
 dbSNP gnomAD v2 gnomAD v4
12g.116022444A>TCA6811632MED13Lc.625+12T>A (n.625+12T>A)
c.595+12T>A (n.595+12T>A)
c.53+12T>A
c.535+12T>A (n.535+12T>A)
n.389+12T>A
 dbSNP ExAC gnomAD v2
12g.116022444_116022445delinsACCA2065398532MED13Lc.625+11_625+12delinsGT (n.625+11_625+12delinsGT)
c.595+11_595+12delinsGT (n.595+11_595+12delinsGT)
c.53+11_53+12delinsGT
c.535+11_535+12delinsGT (n.535+11_535+12delinsGT)
n.389+11_389+12delinsGT
12g.116022445C>ACA2621147607MED13Lc.625+11G>T (n.625+11G>T)
c.595+11G>T (n.595+11G>T)
c.53+11G>T
c.535+11G>T (n.535+11G>T)
n.389+11G>T
 gnomAD v4
12g.116022445C>TCA2727360410MED13Lc.625+11G>A (n.625+11G>A)
c.595+11G>A (n.595+11G>A)
c.53+11G>A
c.535+11G>A (n.535+11G>A)
n.389+11G>A
 dbSNP
12g.116022447delCA607642563MED13Lc.625+11del (n.625+11del)
c.595+11del (n.595+11del)
c.53+11del
c.535+11del (n.535+11del)
n.389+11del
 dbSNP gnomAD v2 gnomAD v4
12g.116022446C=CA2065398536MED13Lc.625+10G= (n.625+10G=)
c.595+10G= (n.595+10G=)
c.53+10G=
c.535+10G= (n.535+10G=)
n.389+10G=
12g.116022446C>TCA2065398539MED13Lc.625+10G>A (n.625+10G>A)
c.595+10G>A (n.595+10G>A)
c.53+10G>A
c.535+10G>A (n.535+10G>A)
n.389+10G>A
 dbSNP
12g.116022448A>CCA481933573MED13Lc.625+8T>G (n.625+8T>G)
c.595+8T>G (n.595+8T>G)
c.53+8T>G
c.535+8T>G (n.535+8T>G)
n.389+8T>G
 ClinVar gnomAD v4
12g.116022448A>GCA2621147608MED13Lc.625+8T>C (n.625+8T>C)
c.595+8T>C (n.595+8T>C)
c.53+8T>C
c.535+8T>C (n.535+8T>C)
n.389+8T>C
 gnomAD v4
12g.116022449T>CCA2621147609MED13Lc.625+7A>G (n.625+7A>G)
c.595+7A>G (n.595+7A>G)
c.53+7A>G
c.535+7A>G (n.535+7A>G)
n.389+7A>G
 gnomAD v4
12g.116022450A>GCA2621147610MED13Lc.625+6T>C (n.625+6T>C)
c.595+6T>C (n.595+6T>C)
c.53+6T>C
c.535+6T>C (n.535+6T>C)
n.389+6T>C
 gnomAD v4
12g.116022452T>CCA2621147611MED13Lc.625+4A>G (n.625+4A>G)
c.595+4A>G (n.595+4A>G)
c.53+4A>G
c.535+4A>G (n.535+4A>G)
n.389+4A>G
 gnomAD v4
12g.116022453delCA2797590886MED13Lc.625+4del (n.625+4del)
c.595+4del (n.595+4del)
c.53+4del
c.535+4del (n.535+4del)
n.389+4del
12g.116022454A>CCA386872075MED13Lc.625+2T>G (n.625+2T>G)
c.595+2T>G (n.595+2T>G)
c.53+2T>G
c.535+2T>G (n.535+2T>G)
n.389+2T>G
12g.116022454A>GCA386872076MED13Lc.625+2T>C (n.625+2T>C)
c.595+2T>C (n.595+2T>C)
c.53+2T>C
c.535+2T>C (n.535+2T>C)
n.389+2T>C
12g.116022454A>TCA386872077MED13Lc.625+2T>A (n.625+2T>A)
c.595+2T>A (n.595+2T>A)
c.53+2T>A
c.535+2T>A (n.535+2T>A)
n.389+2T>A
12g.116022455C>ACA386872078MED13Lc.625+1G>T (n.625+1G>T)
c.595+1G>T (n.595+1G>T)
c.53+1G>T
c.535+1G>T (n.535+1G>T)
n.389+1G>T
12g.116022455C>GCA386872079MED13Lc.625+1G>C (n.625+1G>C)
c.595+1G>C (n.595+1G>C)
c.53+1G>C
c.535+1G>C (n.535+1G>C)
n.389+1G>C
12g.116022455C>TCA386872081MED13Lc.625+1G>A (n.625+1G>A)
c.595+1G>A (n.595+1G>A)
c.53+1G>A
c.535+1G>A (n.535+1G>A)
n.389+1G>A
12g.116022456C>ACA386872085MED13Lc.625G>T (p.Val209Leu)
c.595G>T (p.Val199Leu)
c.53G>T
c.535G>T (p.Val179Leu)
n.389G>T
12g.116022456C=CA2065398543MED13Lc.625G= (p.Val209=)
c.595G= (p.Val199=)
c.53G=
c.535G= (p.Val179=)
n.389G=
12g.116022456C>GCA386872086MED13Lc.625G>C (p.Val209Leu)
c.595G>C (p.Val199Leu)
c.53G>C
c.535G>C (p.Val179Leu)
n.389G>C
12g.116022456C>TCA386872083MED13Lc.625G>A (p.Val209Ile)
c.595G>A (p.Val199Ile)
c.53G>A
c.535G>A (p.Val179Ile)
n.389G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
12g.116022457T>ACA386872089MED13Lc.624A>T (p.Gln208His)
c.594A>T (p.Gln198His)
c.52A>T
c.534A>T (p.Gln178His)
n.388A>T
12g.116022457T>CCA481933574MED13Lc.624A>G (p.Gln208=)
c.594A>G (p.Gln198=)
c.52A>G
c.534A>G (p.Gln178=)
n.388A>G
 gnomAD v4
12g.116022457T>GCA386872090MED13Lc.624A>C (p.Gln208His)
c.594A>C (p.Gln198His)
c.52A>C
c.534A>C (p.Gln178His)
n.388A>C
12g.116022458T>ACA386872093MED13Lc.623A>T (p.Gln208Leu)
c.593A>T (p.Gln198Leu)
c.51A>T
c.533A>T (p.Gln178Leu)
n.387A>T
12g.116022458T>CCA386872094MED13Lc.623A>G (p.Gln208Arg)
c.593A>G (p.Gln198Arg)
c.51A>G
c.533A>G (p.Gln178Arg)
n.387A>G
 dbSNP gnomAD v3 gnomAD v4
12g.116022458T>GCA386872095MED13Lc.623A>C (p.Gln208Pro)
c.593A>C (p.Gln198Pro)
c.51A>C
c.533A>C (p.Gln178Pro)
n.387A>C
 gnomAD v4
12g.116022458T=CA2065398547MED13Lc.623A= (p.Gln208=)
c.593A= (p.Gln198=)
c.51A=
c.533A= (p.Gln178=)
n.387A=
12g.116022459G>ACA386872100MED13Lc.622C>T (p.Gln208Ter)
c.592C>T (p.Gln198Ter)
c.50C>T
c.532C>T (p.Gln178Ter)
n.386C>T
12g.116022459G>CCA386872096MED13Lc.622C>G (p.Gln208Glu)
c.592C>G (p.Gln198Glu)
c.50C>G
c.532C>G (p.Gln178Glu)
n.386C>G
12g.116022459G>TCA386872098MED13Lc.622C>A (p.Gln208Lys)
c.592C>A (p.Gln198Lys)
c.50C>A
c.532C>A (p.Gln178Lys)
n.386C>A
12g.116022460A>CCA386872102MED13Lc.621T>G (p.Phe207Leu)
c.591T>G (p.Phe197Leu)
c.49T>G
c.531T>G (p.Phe177Leu)
n.385T>G
12g.116022460A>GCA481933575MED13Lc.621T>C (p.Phe207=)
c.591T>C (p.Phe197=)
c.49T>C
c.531T>C (p.Phe177=)
n.385T>C
12g.116022460A>TCA386872103MED13Lc.621T>A (p.Phe207Leu)
c.591T>A (p.Phe197Leu)
c.49T>A
c.531T>A (p.Phe177Leu)
n.385T>A
12g.116022461A>CCA386872104MED13Lc.620T>G (p.Phe207Cys)
c.590T>G (p.Phe197Cys)
c.48T>G
c.530T>G (p.Phe177Cys)
n.384T>G
12g.116022461A>GCA386872105MED13Lc.620T>C (p.Phe207Ser)
c.590T>C (p.Phe197Ser)
c.48T>C
c.530T>C (p.Phe177Ser)
n.384T>C
12g.116022461A>TCA386872106MED13Lc.620T>A (p.Phe207Tyr)
c.590T>A (p.Phe197Tyr)
c.48T>A
c.530T>A (p.Phe177Tyr)
n.384T>A
12g.116022462A>CCA386872108MED13Lc.619T>G (p.Phe207Val)
c.589T>G (p.Phe197Val)
c.47T>G
c.529T>G (p.Phe177Val)
n.383T>G
12g.116022462A>GCA386872110MED13Lc.619T>C (p.Phe207Leu)
c.589T>C (p.Phe197Leu)
c.47T>C
c.529T>C (p.Phe177Leu)
n.383T>C
 gnomAD v4
12g.116022462A>TCA386872109MED13Lc.619T>A (p.Phe207Ile)
c.589T>A (p.Phe197Ile)
c.47T>A
c.529T>A (p.Phe177Ile)
n.383T>A
12g.116022463T>ACA481933576MED13Lc.618A>T (p.Pro206=)
c.588A>T (p.Pro196=)
c.46A>T
c.528A>T (p.Pro176=)
n.382A>T
12g.116022463T>CCA481933577MED13Lc.618A>G (p.Pro206=)
c.588A>G (p.Pro196=)
c.46A>G
c.528A>G (p.Pro176=)
n.382A>G
12g.116022463T>GCA244129645MED13Lc.618A>C (p.Pro206=)
c.588A>C (p.Pro196=)
c.46A>C
c.528A>C (p.Pro176=)
n.382A>C
 dbSNP
12g.116022463T=CA2065398548MED13Lc.618A= (p.Pro206=)
c.588A= (p.Pro196=)
c.46A=
c.528A= (p.Pro176=)
n.382A=
12g.116022464G>ACA386872114MED13Lc.617C>T (p.Pro206Leu)
c.587C>T (p.Pro196Leu)
c.45C>T
c.527C>T (p.Pro176Leu)
n.381C>T
12g.116022464G>CCA386872112MED13Lc.617C>G (p.Pro206Arg)
c.587C>G (p.Pro196Arg)
c.45C>G
c.527C>G (p.Pro176Arg)
n.381C>G
12g.116022464G>TCA386872121MED13Lc.617C>A (p.Pro206Gln)
c.587C>A (p.Pro196Gln)
c.45C>A
c.527C>A (p.Pro176Gln)
n.381C>A
12g.116022465G>ACA386872124MED13Lc.616C>T (p.Pro206Ser)
c.586C>T (p.Pro196Ser)
c.44C>T
c.526C>T (p.Pro176Ser)
n.380C>T
 gnomAD v4
12g.116022465G>CCA386872126MED13Lc.616C>G (p.Pro206Ala)
c.586C>G (p.Pro196Ala)
c.44C>G
c.526C>G (p.Pro176Ala)
n.380C>G
12g.116022465G>TCA386872131MED13Lc.616C>A (p.Pro206Thr)
c.586C>A (p.Pro196Thr)
c.44C>A
c.526C>A (p.Pro176Thr)
n.380C>A
12g.116022466T>ACA481933579MED13Lc.615A>T (p.Ala205=)
c.585A>T (p.Ala195=)
c.43A>T
c.525A>T (p.Ala175=)
n.379A>T
12g.116022466T>CCA481933580MED13Lc.615A>G (p.Ala205=)
c.585A>G (p.Ala195=)
c.43A>G
c.525A>G (p.Ala175=)
n.379A>G
 gnomAD v4
12g.116022466T>GCA481933578MED13Lc.615A>C (p.Ala205=)
c.585A>C (p.Ala195=)
c.43A>C
c.525A>C (p.Ala175=)
n.379A>C
12g.116022467G>ACA386872132MED13Lc.614C>T (p.Ala205Val)
c.584C>T (p.Ala195Val)
c.42C>T
c.524C>T (p.Ala175Val)
n.378C>T
 gnomAD v4
12g.116022467G>CCA386872133MED13Lc.614C>G (p.Ala205Gly)
c.584C>G (p.Ala195Gly)
c.42C>G
c.524C>G (p.Ala175Gly)
n.378C>G
12g.116022467G>TCA386872134MED13Lc.614C>A (p.Ala205Glu)
c.584C>A (p.Ala195Glu)
c.42C>A
c.524C>A (p.Ala175Glu)
n.378C>A
12g.116022468C>ACA386872135MED13Lc.613G>T (p.Ala205Ser)
c.583G>T (p.Ala195Ser)
c.41G>T
c.523G>T (p.Ala175Ser)
n.377G>T
12g.116022468C>GCA386872136MED13Lc.613G>C (p.Ala205Pro)
c.583G>C (p.Ala195Pro)
c.41G>C
c.523G>C (p.Ala175Pro)
n.377G>C
12g.116022468C>TCA386872137MED13Lc.613G>A (p.Ala205Thr)
c.583G>A (p.Ala195Thr)
c.41G>A
c.523G>A (p.Ala175Thr)
n.377G>A
 gnomAD v4
12g.116022469A>CCA481933583MED13Lc.612T>G (p.Pro204=)
c.582T>G (p.Pro194=)
c.40T>G
c.522T>G (p.Pro174=)
n.376T>G
12g.116022469A>GCA481933582MED13Lc.612T>C (p.Pro204=)
c.582T>C (p.Pro194=)
c.40T>C
c.522T>C (p.Pro174=)
n.376T>C
12g.116022469A>TCA481933581MED13Lc.612T>A (p.Pro204=)
c.582T>A (p.Pro194=)
c.40T>A
c.522T>A (p.Pro174=)
n.376T>A
 gnomAD v4
12g.116022470G>ACA6811633MED13Lc.611C>T (p.Pro204Leu)
c.581C>T (p.Pro194Leu)
c.39C>T
c.521C>T (p.Pro174Leu)
n.375C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.116022470G>CCA386872138MED13Lc.611C>G (p.Pro204Arg)
c.581C>G (p.Pro194Arg)
c.39C>G
c.521C>G (p.Pro174Arg)
n.375C>G
12g.116022470G=CA2065398553MED13Lc.611C= (p.Pro204=)
c.581C= (p.Pro194=)
c.39C=
c.521C= (p.Pro174=)
n.375C=
12g.116022470G>TCA386872139MED13Lc.611C>A (p.Pro204His)
c.581C>A (p.Pro194His)
c.39C>A
c.521C>A (p.Pro174His)
n.375C>A
12g.116022471G>ACA386872142MED13Lc.610C>T (p.Pro204Ser)
c.580C>T (p.Pro194Ser)
c.38C>T
c.520C>T (p.Pro174Ser)
n.374C>T
 dbSNP gnomAD v2
12g.116022471G>CCA386872140MED13Lc.610C>G (p.Pro204Ala)
c.580C>G (p.Pro194Ala)
c.38C>G
c.520C>G (p.Pro174Ala)
n.374C>G
 ClinVar
12g.116022471G=CA2065398557MED13Lc.610C= (p.Pro204=)
c.580C= (p.Pro194=)
c.38C=
c.520C= (p.Pro174=)
n.374C=
12g.116022471G>TCA386872141MED13Lc.610C>A (p.Pro204Thr)
c.580C>A (p.Pro194Thr)
c.38C>A
c.520C>A (p.Pro174Thr)
n.374C>A
12g.116022472T>ACA481933586MED13Lc.609A>T (p.Ser203=)
c.579A>T (p.Ser193=)
c.37A>T
c.519A>T (p.Ser173=)
n.373A>T
12g.116022472T>CCA481933584MED13Lc.609A>G (p.Ser203=)
c.579A>G (p.Ser193=)
c.37A>G
c.519A>G (p.Ser173=)
n.373A>G
12g.116022472T>GCA481933585MED13Lc.609A>C (p.Ser203=)
c.579A>C (p.Ser193=)
c.37A>C
c.519A>C (p.Ser173=)
n.373A>C
 gnomAD v4
12g.116022473G>ACA386872143MED13Lc.608C>T (p.Ser203Leu)
c.578C>T (p.Ser193Leu)
c.36C>T
c.518C>T (p.Ser173Leu)
n.372C>T
 gnomAD v4 COSMIC
12g.116022473G>CCA386872144MED13Lc.608C>G (p.Ser203Ter)
c.578C>G (p.Ser193Ter)
c.36C>G
c.518C>G (p.Ser173Ter)
n.372C>G
12g.116022473G=CA2065398561MED13Lc.608C= (p.Ser203=)
c.578C= (p.Ser193=)
c.36C=
c.518C= (p.Ser173=)
n.372C=
12g.116022473G>TCA386872145MED13Lc.608C>A (p.Ser203Ter)
c.578C>A (p.Ser193Ter)
c.36C>A
c.518C>A (p.Ser173Ter)
n.372C>A
12g.116022474A>CCA386872146MED13Lc.607T>G (p.Ser203Ala)
c.577T>G (p.Ser193Ala)
c.35T>G
c.517T>G (p.Ser173Ala)
n.371T>G
12g.116022474A>GCA386872147MED13Lc.607T>C (p.Ser203Pro)
c.577T>C (p.Ser193Pro)
c.35T>C
c.517T>C (p.Ser173Pro)
n.371T>C
12g.116022474A>TCA386872148MED13Lc.607T>A (p.Ser203Thr)
c.577T>A (p.Ser193Thr)
c.35T>A
c.517T>A (p.Ser173Thr)
n.371T>A
12g.116022475dupCA351504MED13Lc.607dup (p.Ser203PhefsTer?)
c.577dup (p.Ser193PhefsTer?)
c.35dup
c.517dup (p.Ser173PhefsTer?)
n.371dup
 ClinVar dbSNP
12g.116022475A>CCA481933587MED13Lc.606T>G (p.Ser202=)
c.576T>G (p.Ser192=)
c.34T>G
c.516T>G (p.Ser172=)
n.370T>G
12g.116022475A>GCA481933588MED13Lc.606T>C (p.Ser202=)
c.576T>C (p.Ser192=)
c.34T>C
c.516T>C (p.Ser172=)
n.370T>C
12g.116022475A>TCA481933589MED13Lc.606T>A (p.Ser202=)
c.576T>A (p.Ser192=)
c.34T>A
c.516T>A (p.Ser172=)
n.370T>A
12g.116022476G>ACA386872149MED13Lc.605C>T (p.Ser202Phe)
c.575C>T (p.Ser192Phe)
c.33C>T
c.515C>T (p.Ser172Phe)
n.369C>T
12g.116022476G>CCA386872150MED13Lc.605C>G (p.Ser202Cys)
c.575C>G (p.Ser192Cys)
c.33C>G
c.515C>G (p.Ser172Cys)
n.369C>G
12g.116022476G>TCA386872151MED13Lc.605C>A (p.Ser202Tyr)
c.575C>A (p.Ser192Tyr)
c.33C>A
c.515C>A (p.Ser172Tyr)
n.369C>A
12g.116022477A>CCA386872154MED13Lc.604T>G (p.Ser202Ala)
c.574T>G (p.Ser192Ala)
c.32T>G
c.514T>G (p.Ser172Ala)
n.368T>G
12g.116022477A>GCA386872153MED13Lc.604T>C (p.Ser202Pro)
c.574T>C (p.Ser192Pro)
c.32T>C
c.514T>C (p.Ser172Pro)
n.368T>C
12g.116022477A>TCA386872152MED13Lc.604T>A (p.Ser202Thr)
c.574T>A (p.Ser192Thr)
c.32T>A
c.514T>A (p.Ser172Thr)
n.368T>A
12g.116022478C>ACA386872155MED13Lc.603G>T (p.Gln201His)
c.573G>T (p.Gln191His)
c.31G>T
c.513G>T (p.Gln171His)
n.367G>T
 ClinVar dbSNP
12g.116022478C=CA2065398579MED13Lc.603G= (p.Gln201=)
c.573G= (p.Gln191=)
c.31G=
c.513G= (p.Gln171=)
n.367G=
12g.116022478C>GCA386872156MED13Lc.603G>C (p.Gln201His)
c.573G>C (p.Gln191His)
c.31G>C
c.513G>C (p.Gln171His)
n.367G>C
12g.116022478C>TCA481933590MED13Lc.603G>A (p.Gln201=)
c.573G>A (p.Gln191=)
c.31G>A
c.513G>A (p.Gln171=)
n.367G>A
12g.116022479T>ACA386872157MED13Lc.602A>T (p.Gln201Leu)
c.572A>T (p.Gln191Leu)
c.30A>T
c.512A>T (p.Gln171Leu)
n.366A>T
 gnomAD v4
12g.116022479T>CCA386872158MED13Lc.602A>G (p.Gln201Arg)
c.572A>G (p.Gln191Arg)
c.30A>G
c.512A>G (p.Gln171Arg)
n.366A>G
 gnomAD v4
12g.116022479T>GCA386872159MED13Lc.602A>C (p.Gln201Pro)
c.572A>C (p.Gln191Pro)
c.30A>C
c.512A>C (p.Gln171Pro)
n.366A>C
 gnomAD v4
12g.116022480G>ACA386872160MED13Lc.601C>T (p.Gln201Ter)
c.571C>T (p.Gln191Ter)
c.29C>T
c.511C>T (p.Gln171Ter)
n.365C>T
 ClinVar dbSNP
12g.116022480G>CCA386872161MED13Lc.601C>G (p.Gln201Glu)
c.571C>G (p.Gln191Glu)
c.29C>G
c.511C>G (p.Gln171Glu)
n.365C>G
 ClinVar gnomAD v4
12g.116022480G=CA2065398586MED13Lc.601C= (p.Gln201=)
c.571C= (p.Gln191=)
c.29C=
c.511C= (p.Gln171=)
n.365C=
12g.116022480G>TCA244129678MED13Lc.601C>A (p.Gln201Lys)
c.571C>A (p.Gln191Lys)
c.29C>A
c.511C>A (p.Gln171Lys)
n.365C>A
 dbSNP
12g.116022481A=CA2065398594MED13Lc.600T= (p.Ala200=)
c.570T= (p.Ala190=)
c.28T=
c.510T= (p.Ala170=)
n.364T=
12g.116022481A>CCA481933591MED13Lc.600T>G (p.Ala200=)
c.570T>G (p.Ala190=)
c.28T>G
c.510T>G (p.Ala170=)
n.364T>G
12g.116022481A>GCA6811634MED13Lc.600T>C (p.Ala200=)
c.570T>C (p.Ala190=)
c.28T>C
c.510T>C (p.Ala170=)
n.364T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.116022481A>TCA481933592MED13Lc.600T>A (p.Ala200=)
c.570T>A (p.Ala190=)
c.28T>A
c.510T>A (p.Ala170=)
n.364T>A
12g.116022482G>ACA386872162MED13Lc.599C>T (p.Ala200Val)
c.569C>T (p.Ala190Val)
c.27C>T
c.509C>T (p.Ala170Val)
n.363C>T
12g.116022482G>CCA386872163MED13Lc.599C>G (p.Ala200Gly)
c.569C>G (p.Ala190Gly)
c.27C>G
c.509C>G (p.Ala170Gly)
n.363C>G
12g.116022482G>TCA386872164MED13Lc.599C>A (p.Ala200Asp)
c.569C>A (p.Ala190Asp)
c.27C>A
c.509C>A (p.Ala170Asp)
n.363C>A
12g.116022483C>ACA386872167MED13Lc.598G>T (p.Ala200Ser)
c.568G>T (p.Ala190Ser)
c.26G>T
c.508G>T (p.Ala170Ser)
n.362G>T
12g.116022483C=CA2065398599MED13Lc.598G= (p.Ala200=)
c.568G= (p.Ala190=)
c.26G=
c.508G= (p.Ala170=)
n.362G=
12g.116022483C>GCA386872165MED13Lc.598G>C (p.Ala200Pro)
c.568G>C (p.Ala190Pro)
c.26G>C
c.508G>C (p.Ala170Pro)
n.362G>C
12g.116022483C>TCA386872166MED13Lc.598G>A (p.Ala200Thr)
c.568G>A (p.Ala190Thr)
c.26G>A
c.508G>A (p.Ala170Thr)
n.362G>A
 dbSNP
12g.116022484C>ACA386872168MED13Lc.597G>T (p.Met199Ile)
c.567G>T (p.Met189Ile)
c.25G>T
c.507G>T (p.Met169Ile)
n.361G>T
12g.116022484C>GCA386872169MED13Lc.597G>C (p.Met199Ile)
c.567G>C (p.Met189Ile)
c.25G>C
c.507G>C (p.Met169Ile)
n.361G>C
 gnomAD v4
12g.116022484C>TCA386872170MED13Lc.597G>A (p.Met199Ile)
c.567G>A (p.Met189Ile)
c.25G>A
c.507G>A (p.Met169Ile)
n.361G>A
12g.116022485A=CA2065398602MED13Lc.596T= (p.Met199=)
c.566T= (p.Met189=)
c.24T=
c.506T= (p.Met169=)
n.360T=
12g.116022485A>CCA386872171MED13Lc.596T>G (p.Met199Arg)
c.566T>G (p.Met189Arg)
c.24T>G
c.506T>G (p.Met169Arg)
n.360T>G
12g.116022485A>GCA386872172MED13Lc.596T>C (p.Met199Thr)
c.566T>C (p.Met189Thr)
c.24T>C
c.506T>C (p.Met169Thr)
n.360T>C
 dbSNP gnomAD v3 gnomAD v4
12g.116022485A>TCA386872173MED13Lc.596T>A (p.Met199Lys)
c.566T>A (p.Met189Lys)
c.24T>A
c.506T>A (p.Met169Lys)
n.360T>A
12g.116022486T>ACA386872174MED13Lc.595A>T (p.Met199Leu)
c.565A>T (p.Met189Leu)
c.23A>T
c.505A>T (p.Met169Leu)
n.359A>T
 dbSNP gnomAD v3 gnomAD v4
12g.116022486T>CCA386872175MED13Lc.595A>G (p.Met199Val)
c.565A>G (p.Met189Val)
c.23A>G
c.505A>G (p.Met169Val)
n.359A>G
 dbSNP gnomAD v2 gnomAD v4
12g.116022486T>GCA386872176MED13Lc.595A>C (p.Met199Leu)
c.565A>C (p.Met189Leu)
c.23A>C
c.505A>C (p.Met169Leu)
n.359A>C
12g.116022486T=CA2065398610MED13Lc.595A= (p.Met199=)
c.565A= (p.Met189=)
c.23A=
c.505A= (p.Met169=)
n.359A=
12g.116022487G>ACA6811635MED13Lc.594C>T (p.His198=)
c.564C>T (p.His188=)
c.22C>T
c.504C>T (p.His168=)
n.358C>T
 dbSNP ExAC gnomAD v2
12g.116022487G>CCA386872177MED13Lc.594C>G (p.His198Gln)
c.564C>G (p.His188Gln)
c.22C>G
c.504C>G (p.His168Gln)
n.358C>G
12g.116022487G=CA2065398616MED13Lc.594C= (p.His198=)
c.564C= (p.His188=)
c.22C=
c.504C= (p.His168=)
n.358C=
12g.116022487G>TCA386872178MED13Lc.594C>A (p.His198Gln)
c.564C>A (p.His188Gln)
c.22C>A
c.504C>A (p.His168Gln)
n.358C>A
 gnomAD v4
12g.116022488T>ACA6811637MED13Lc.593A>T (p.His198Leu)
c.563A>T (p.His188Leu)
c.21A>T
c.503A>T (p.His168Leu)
n.357A>T
 dbSNP ExAC gnomAD v2
12g.116022488T>CCA6811636MED13Lc.593A>G (p.His198Arg)
c.563A>G (p.His188Arg)
c.21A>G
c.503A>G (p.His168Arg)
n.357A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.116022488T>GCA386872179MED13Lc.593A>C (p.His198Pro)
c.563A>C (p.His188Pro)
c.21A>C
c.503A>C (p.His168Pro)
n.357A>C
 ClinVar dbSNP
12g.116022488T=CA2065398624MED13Lc.593A= (p.His198=)
c.563A= (p.His188=)
c.21A=
c.503A= (p.His168=)
n.357A=
12g.116022489G>ACA386872182MED13Lc.592C>T (p.His198Tyr)
c.562C>T (p.His188Tyr)
c.20C>T
c.502C>T (p.His168Tyr)
n.356C>T
12g.116022489G>CCA386872180MED13Lc.592C>G (p.His198Asp)
c.562C>G (p.His188Asp)
c.20C>G
c.502C>G (p.His168Asp)
n.356C>G
12g.116022489G>TCA386872181MED13Lc.592C>A (p.His198Asn)
c.562C>A (p.His188Asn)
c.20C>A
c.502C>A (p.His168Asn)
n.356C>A
12g.116022490T>ACA481933594MED13Lc.591A>T (p.Ile197=)
c.561A>T (p.Ile187=)
c.19A>T
c.501A>T (p.Ile167=)
n.355A>T
12g.116022490T>CCA386872183MED13Lc.591A>G (p.Ile197Met)
c.561A>G (p.Ile187Met)
c.19A>G
c.501A>G (p.Ile167Met)
n.355A>G
 COSMIC
12g.116022490T>GCA481933593MED13Lc.591A>C (p.Ile197=)
c.561A>C (p.Ile187=)
c.19A>C
c.501A>C (p.Ile167=)
n.355A>C
12g.116022491A>CCA386872184MED13Lc.590T>G (p.Ile197Arg)
c.560T>G (p.Ile187Arg)
c.18T>G
c.500T>G (p.Ile167Arg)
n.354T>G
12g.116022491A>GCA386872185MED13Lc.590T>C (p.Ile197Thr)
c.560T>C (p.Ile187Thr)
c.18T>C
c.500T>C (p.Ile167Thr)
n.354T>C
12g.116022491A>TCA386872186MED13Lc.590T>A (p.Ile197Lys)
c.560T>A (p.Ile187Lys)
c.18T>A
c.500T>A (p.Ile167Lys)
n.354T>A
12g.116022492T>ACA386872189MED13Lc.589A>T (p.Ile197Leu)
c.559A>T (p.Ile187Leu)
c.17A>T
c.499A>T (p.Ile167Leu)
n.353A>T
12g.116022492T>CCA386872187MED13Lc.589A>G (p.Ile197Val)
c.559A>G (p.Ile187Val)
c.17A>G
c.499A>G (p.Ile167Val)
n.353A>G
12g.116022492T>GCA386872188MED13Lc.589A>C (p.Ile197Leu)
c.559A>C (p.Ile187Leu)
c.17A>C
c.499A>C (p.Ile167Leu)
n.353A>C
12g.116022493A>CCA386872190MED13Lc.588T>G (p.His196Gln)
c.558T>G (p.His186Gln)
c.16T>G
c.498T>G (p.His166Gln)
n.352T>G
12g.116022493A>GCA481933595MED13Lc.588T>C (p.His196=)
c.558T>C (p.His186=)
c.16T>C
c.498T>C (p.His166=)
n.352T>C
 gnomAD v4
12g.116022493A>TCA386872191MED13Lc.588T>A (p.His196Gln)
c.558T>A (p.His186Gln)
c.16T>A
c.498T>A (p.His166Gln)
n.352T>A
12g.116022494T>ACA386872192MED13Lc.587A>T (p.His196Leu)
c.557A>T (p.His186Leu)
c.15A>T
c.497A>T (p.His166Leu)
n.351A>T
12g.116022494T>CCA386872193MED13Lc.587A>G (p.His196Arg)
c.557A>G (p.His186Arg)
c.15A>G
c.497A>G (p.His166Arg)
n.351A>G
 gnomAD v4
12g.116022494T>GCA386872194MED13Lc.587A>C (p.His196Pro)
c.557A>C (p.His186Pro)
c.15A>C
c.497A>C (p.His166Pro)
n.351A>C
12g.116022494_116022498dupCA2695217458MED13Lc.583_587dup (p.His196GlnfsTer18)
c.553_557dup (p.His186GlnfsTer18)
c.11_15dup
c.493_497dup (p.His166GlnfsTer18)
n.347_351dup
12g.116022495G>ACA386872195MED13Lc.586C>T (p.His196Tyr)
c.556C>T (p.His186Tyr)
c.14C>T
c.496C>T (p.His166Tyr)
n.350C>T
 dbSNP gnomAD v4
12g.116022495G>CCA386872197MED13Lc.586C>G (p.His196Asp)
c.556C>G (p.His186Asp)
c.14C>G
c.496C>G (p.His166Asp)
n.350C>G
12g.116022495G=CA2065398628MED13Lc.586C= (p.His196=)
c.556C= (p.His186=)
c.14C=
c.496C= (p.His166=)
n.350C=
12g.116022495G>TCA386872196MED13Lc.586C>A (p.His196Asn)
c.556C>A (p.His186Asn)
c.14C>A
c.496C>A (p.His166Asn)
n.350C>A
12g.116022495_116022496delinsAACA2580085871MED13Lc.585_586delinsTT (p.Glu195_His196delinsAspTyr)
c.555_556delinsTT (p.Glu185_His186delinsAspTyr)
c.13_14delinsTT
c.495_496delinsTT (p.Glu165_His166delinsAspTyr)
n.349_350delinsTT
 ClinVar
12g.116022496C>ACA386872198MED13Lc.585G>T (p.Glu195Asp)
c.555G>T (p.Glu185Asp)
c.13G>T
c.495G>T (p.Glu165Asp)
n.349G>T
 dbSNP gnomAD v4
12g.116022496C=CA2065398633MED13Lc.585G= (p.Glu195=)
c.555G= (p.Glu185=)
c.13G=
c.495G= (p.Glu165=)
n.349G=
12g.116022496C>GCA386872199MED13Lc.585G>C (p.Glu195Asp)
c.555G>C (p.Glu185Asp)
c.13G>C
c.495G>C (p.Glu165Asp)
n.349G>C
12g.116022496C>TCA481933596MED13Lc.585G>A (p.Glu195=)
c.555G>A (p.Glu185=)
c.13G>A
c.495G>A (p.Glu165=)
n.349G>A
 dbSNP
12g.116022497T>ACA386872200MED13Lc.584A>T (p.Glu195Val)
c.554A>T (p.Glu185Val)
c.12A>T
c.494A>T (p.Glu165Val)
n.348A>T
12g.116022497T>CCA386872201MED13Lc.584A>G (p.Glu195Gly)
c.554A>G (p.Glu185Gly)
c.12A>G
c.494A>G (p.Glu165Gly)
n.348A>G
12g.116022497T>GCA386872202MED13Lc.584A>C (p.Glu195Ala)
c.554A>C (p.Glu185Ala)
c.12A>C
c.494A>C (p.Glu165Ala)
n.348A>C
12g.116022498C>ACA386872203MED13Lc.583G>T (p.Glu195Ter)
c.553G>T (p.Glu185Ter)
c.11G>T
c.493G>T (p.Glu165Ter)
n.347G>T
12g.116022498C=CA2065398640MED13Lc.583G= (p.Glu195=)
c.553G= (p.Glu185=)
c.11G=
c.493G= (p.Glu165=)
n.347G=
12g.116022498C>GCA386872204MED13Lc.583G>C (p.Glu195Gln)
c.553G>C (p.Glu185Gln)
c.11G>C
c.493G>C (p.Glu165Gln)
n.347G>C
 gnomAD v4
12g.116022498C>TCA6811638MED13Lc.583G>A (p.Glu195Lys)
c.553G>A (p.Glu185Lys)
c.11G>A
c.493G>A (p.Glu165Lys)
n.347G>A
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
12g.116022499C>ACA386872205MED13Lc.582G>T (p.Glu194Asp)
c.552G>T (p.Glu184Asp)
c.10G>T
c.492G>T (p.Glu164Asp)
n.346G>T
12g.116022499C>GCA386872206MED13Lc.582G>C (p.Glu194Asp)
c.552G>C (p.Glu184Asp)
c.10G>C
c.492G>C (p.Glu164Asp)
n.346G>C
12g.116022499C>TCA481933597MED13Lc.582G>A (p.Glu194=)
c.552G>A (p.Glu184=)
c.10G>A
c.492G>A (p.Glu164=)
n.346G>A

Number of alleles fetched