Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.218584637C>ACA350569040CNOT9c.346C>A (p.Pro116Thr)
c.*238C>A (n.*238C>A)
n.695+1551C>A
c.187C>A (p.Pro63Thr)
c.184C>A (p.Pro62Thr)
n.436+1551C>A
2g.218584637C>GCA350569041CNOT9c.346C>G (p.Pro116Ala)
c.*238C>G (n.*238C>G)
n.695+1551C>G
c.187C>G (p.Pro63Ala)
c.184C>G (p.Pro62Ala)
n.436+1551C>G
2g.218584637C>TCA350569042CNOT9c.346C>T (p.Pro116Ser)
c.*238C>T (n.*238C>T)
n.695+1551C>T
c.187C>T (p.Pro63Ser)
c.184C>T (p.Pro62Ser)
n.436+1551C>T
2g.218584638C>ACA350569043CNOT9c.347C>A (p.Pro116Gln)
c.*239C>A (n.*239C>A)
n.695+1552C>A
c.188C>A (p.Pro63Gln)
c.185C>A (p.Pro62Gln)
n.436+1552C>A
2g.218584638C>GCA350569044CNOT9c.347C>G (p.Pro116Arg)
c.*239C>G (n.*239C>G)
n.695+1552C>G
c.188C>G (p.Pro63Arg)
c.185C>G (p.Pro62Arg)
n.436+1552C>G
2g.218584638C>TCA350569045CNOT9c.347C>T (p.Pro116Leu)
c.*239C>T (n.*239C>T)
n.695+1552C>T
c.188C>T (p.Pro63Leu)
c.185C>T (p.Pro62Leu)
n.436+1552C>T
2g.218584639A>CCA431228428CNOT9c.348A>C (p.Pro116=)
c.*240A>C (n.*240A>C)
n.695+1553A>C
c.189A>C (p.Pro63=)
c.186A>C (p.Pro62=)
n.436+1553A>C
2g.218584639A>GCA431228429CNOT9c.348A>G (p.Pro116=)
c.*240A>G (n.*240A>G)
n.695+1553A>G
c.189A>G (p.Pro63=)
c.186A>G (p.Pro62=)
n.436+1553A>G
2g.218584639A>TCA431228431CNOT9c.348A>T (p.Pro116=)
c.*240A>T (n.*240A>T)
n.695+1553A>T
c.189A>T (p.Pro63=)
c.186A>T (p.Pro62=)
n.436+1553A>T
2g.218584640C>ACA350569046CNOT9c.349C>A (p.Leu117Ile)
c.*241C>A (n.*241C>A)
n.695+1554C>A
c.190C>A (p.Leu64Ile)
c.187C>A (p.Leu63Ile)
n.436+1554C>A
2g.218584640C>GCA350569047CNOT9c.349C>G (p.Leu117Val)
c.*241C>G (n.*241C>G)
n.695+1554C>G
c.190C>G (p.Leu64Val)
c.187C>G (p.Leu63Val)
n.436+1554C>G
2g.218584640C>TCA350569048CNOT9c.349C>T (p.Leu117Phe)
c.*241C>T (n.*241C>T)
n.695+1554C>T
c.190C>T (p.Leu64Phe)
c.187C>T (p.Leu63Phe)
n.436+1554C>T
2g.218584640_218584641delinsCTCA1328827413CNOT9c.349_350delinsCT (p.Leu117=)
c.*241_*242delinsCT (n.*241_*242delinsCT)
n.695+1554_695+1555delinsCT
c.190_191delinsCT (p.Leu64=)
c.187_188delinsCT (p.Leu63=)
n.436+1554_436+1555delinsCT
2g.218584641T>ACA350569049CNOT9c.350T>A (p.Leu117His)
c.*242T>A (n.*242T>A)
n.695+1555T>A
c.191T>A (p.Leu64His)
c.188T>A (p.Leu63His)
n.436+1555T>A
2g.218584641T>CCA350569051CNOT9c.350T>C (p.Leu117Pro)
c.*242T>C (n.*242T>C)
n.695+1555T>C
c.191T>C (p.Leu64Pro)
c.188T>C (p.Leu63Pro)
n.436+1555T>C
2g.218584641T>GCA350569050CNOT9c.350T>G (p.Leu117Arg)
c.*242T>G (n.*242T>G)
n.695+1555T>G
c.191T>G (p.Leu64Arg)
c.188T>G (p.Leu63Arg)
n.436+1555T>G
2g.218584647dupCA645517061CNOT9c.356dup (p.Leu119PhefsTer15)
c.*248dup (n.*248dup)
n.695+1561dup
c.197dup (p.Leu66PhefsTer15)
c.194dup (p.Leu65PhefsTer15)
n.436+1561dup
 gnomAD v4 COSMIC
2g.218584647delCA431228434CNOT9c.356del (p.Leu119CysfsTer29)
c.*248del (n.*248del)
c.356del (p.Leu119CysfsTer26)
n.695+1561del
c.197del (p.Leu66CysfsTer29)
c.194del (p.Leu65CysfsTer29)
n.436+1561del
 dbSNP gnomAD v4 COSMIC
2g.218584642T>ACA431228438CNOT9c.351T>A (p.Leu117=)
c.*243T>A (n.*243T>A)
n.695+1556T>A
c.192T>A (p.Leu64=)
c.189T>A (p.Leu63=)
n.436+1556T>A
2g.218584642T>CCA431228437CNOT9c.351T>C (p.Leu117=)
c.*243T>C (n.*243T>C)
n.695+1556T>C
c.192T>C (p.Leu64=)
c.189T>C (p.Leu63=)
n.436+1556T>C
2g.218584642T>GCA431228436CNOT9c.351T>G (p.Leu117=)
c.*243T>G (n.*243T>G)
n.695+1556T>G
c.192T>G (p.Leu64=)
c.189T>G (p.Leu63=)
n.436+1556T>G
2g.218584643T>ACA350569052CNOT9c.352T>A (p.Phe118Ile)
c.*244T>A (n.*244T>A)
n.695+1557T>A
c.193T>A (p.Phe65Ile)
c.190T>A (p.Phe64Ile)
n.436+1557T>A
2g.218584643T>CCA350569053CNOT9c.352T>C (p.Phe118Leu)
c.*244T>C (n.*244T>C)
n.695+1557T>C
c.193T>C (p.Phe65Leu)
c.190T>C (p.Phe64Leu)
n.436+1557T>C
 gnomAD v4
2g.218584643T>GCA350569054CNOT9c.352T>G (p.Phe118Val)
c.*244T>G (n.*244T>G)
n.695+1557T>G
c.193T>G (p.Phe65Val)
c.190T>G (p.Phe64Val)
n.436+1557T>G
2g.218584644T>ACA350569055CNOT9c.353T>A (p.Phe118Tyr)
c.*245T>A (n.*245T>A)
n.695+1558T>A
c.194T>A (p.Phe65Tyr)
c.191T>A (p.Phe64Tyr)
n.436+1558T>A
2g.218584644T>CCA350569056CNOT9c.353T>C (p.Phe118Ser)
c.*245T>C (n.*245T>C)
n.695+1558T>C
c.194T>C (p.Phe65Ser)
c.191T>C (p.Phe64Ser)
n.436+1558T>C
 gnomAD v4
2g.218584644T>GCA65779145CNOT9c.353T>G (p.Phe118Cys)
c.*245T>G (n.*245T>G)
n.695+1558T>G
c.194T>G (p.Phe65Cys)
c.191T>G (p.Phe64Cys)
n.436+1558T>G
 dbSNP
2g.218584644T=CA1328827414CNOT9c.353T= (p.Phe118=)
c.*245T= (n.*245T=)
n.695+1558T=
c.194T= (p.Phe65=)
c.191T= (p.Phe64=)
n.436+1558T=
2g.218584645T>ACA350569057CNOT9c.354T>A (p.Phe118Leu)
c.*246T>A (n.*246T>A)
n.695+1559T>A
c.195T>A (p.Phe65Leu)
c.192T>A (p.Phe64Leu)
n.436+1559T>A
2g.218584645T>CCA431228440CNOT9c.354T>C (p.Phe118=)
c.*246T>C (n.*246T>C)
n.695+1559T>C
c.195T>C (p.Phe65=)
c.192T>C (p.Phe64=)
n.436+1559T>C
2g.218584645T>GCA350569058CNOT9c.354T>G (p.Phe118Leu)
c.*246T>G (n.*246T>G)
n.695+1559T>G
c.195T>G (p.Phe65Leu)
c.192T>G (p.Phe64Leu)
n.436+1559T>G
2g.218584646T>ACA350569059CNOT9c.355T>A (p.Leu119Met)
c.*247T>A (n.*247T>A)
n.695+1560T>A
c.196T>A (p.Leu66Met)
c.193T>A (p.Leu65Met)
n.436+1560T>A
2g.218584646T>CCA431228441CNOT9c.355T>C (p.Leu119=)
c.*247T>C (n.*247T>C)
n.695+1560T>C
c.196T>C (p.Leu66=)
c.193T>C (p.Leu65=)
n.436+1560T>C
2g.218584646T>GCA350569060CNOT9c.355T>G (p.Leu119Val)
c.*247T>G (n.*247T>G)
n.695+1560T>G
c.196T>G (p.Leu66Val)
c.193T>G (p.Leu65Val)
n.436+1560T>G
2g.218584647T>ACA350569063CNOT9c.356T>A (p.Leu119Ter)
c.*248T>A (n.*248T>A)
n.695+1561T>A
c.197T>A (p.Leu66Ter)
c.194T>A (p.Leu65Ter)
n.436+1561T>A
2g.218584647T>CCA350569062CNOT9c.356T>C (p.Leu119Ser)
c.*248T>C (n.*248T>C)
n.695+1561T>C
c.197T>C (p.Leu66Ser)
c.194T>C (p.Leu65Ser)
n.436+1561T>C
2g.218584647T>GCA350569061CNOT9c.356T>G (p.Leu119Trp)
c.*248T>G (n.*248T>G)
n.695+1561T>G
c.197T>G (p.Leu66Trp)
c.194T>G (p.Leu65Trp)
n.436+1561T>G
2g.218584648G>ACA431228442CNOT9c.357G>A (p.Leu119=)
c.*249G>A (n.*249G>A)
n.695+1562G>A
c.198G>A (p.Leu66=)
c.195G>A (p.Leu65=)
n.436+1562G>A
2g.218584648G>CCA350569065CNOT9c.357G>C (p.Leu119Phe)
c.*249G>C (n.*249G>C)
n.695+1562G>C
c.198G>C (p.Leu66Phe)
c.195G>C (p.Leu65Phe)
n.436+1562G>C
2g.218584648G>TCA350569064CNOT9c.357G>T (p.Leu119Phe)
c.*249G>T (n.*249G>T)
n.695+1562G>T
c.198G>T (p.Leu66Phe)
c.195G>T (p.Leu65Phe)
n.436+1562G>T
2g.218584649T>ACA350569066CNOT9c.358T>A (p.Tyr120Asn)
c.*250T>A (n.*250T>A)
n.695+1563T>A
c.199T>A (p.Tyr67Asn)
c.196T>A (p.Tyr66Asn)
n.436+1563T>A
2g.218584649T>CCA350569067CNOT9c.358T>C (p.Tyr120His)
c.*250T>C (n.*250T>C)
n.695+1563T>C
c.199T>C (p.Tyr67His)
c.196T>C (p.Tyr66His)
n.436+1563T>C
2g.218584649T>GCA350569068CNOT9c.358T>G (p.Tyr120Asp)
c.*250T>G (n.*250T>G)
n.695+1563T>G
c.199T>G (p.Tyr67Asp)
c.196T>G (p.Tyr66Asp)
n.436+1563T>G
2g.218584650A>CCA350569069CNOT9c.359A>C (p.Tyr120Ser)
c.*251A>C (n.*251A>C)
n.695+1564A>C
c.200A>C (p.Tyr67Ser)
c.197A>C (p.Tyr66Ser)
n.436+1564A>C
2g.218584650A>GCA350569070CNOT9c.359A>G (p.Tyr120Cys)
c.*251A>G (n.*251A>G)
n.695+1564A>G
c.200A>G (p.Tyr67Cys)
c.197A>G (p.Tyr66Cys)
n.436+1564A>G
2g.218584650A>TCA350569071CNOT9c.359A>T (p.Tyr120Phe)
c.*251A>T (n.*251A>T)
n.695+1564A>T
c.200A>T (p.Tyr67Phe)
c.197A>T (p.Tyr66Phe)
n.436+1564A>T
2g.218584651C>ACA350569072CNOT9c.360C>A (p.Tyr120Ter)
c.*252C>A (n.*252C>A)
n.695+1565C>A
c.201C>A (p.Tyr67Ter)
c.198C>A (p.Tyr66Ter)
n.436+1565C>A
2g.218584651C=CA1328827415CNOT9c.360C= (p.Tyr120=)
c.*252C= (n.*252C=)
n.695+1565C=
c.201C= (p.Tyr67=)
c.198C= (p.Tyr66=)
n.436+1565C=
2g.218584651C>GCA350569073CNOT9c.360C>G (p.Tyr120Ter)
c.*252C>G (n.*252C>G)
n.695+1565C>G
c.201C>G (p.Tyr67Ter)
c.198C>G (p.Tyr66Ter)
n.436+1565C>G
2g.218584651C>TCA431228443CNOT9c.360C>T (p.Tyr120=)
c.*252C>T (n.*252C>T)
n.695+1565C>T
c.201C>T (p.Tyr67=)
c.198C>T (p.Tyr66=)
n.436+1565C>T
 dbSNP
2g.218584652C>ACA350569074CNOT9c.361C>A (p.Pro121Thr)
c.*253C>A (n.*253C>A)
n.695+1566C>A
c.202C>A (p.Pro68Thr)
c.199C>A (p.Pro67Thr)
n.436+1566C>A
2g.218584652C>GCA350569075CNOT9c.361C>G (p.Pro121Ala)
c.*253C>G (n.*253C>G)
n.695+1566C>G
c.202C>G (p.Pro68Ala)
c.199C>G (p.Pro67Ala)
n.436+1566C>G
2g.218584652C>TCA350569076CNOT9c.361C>T (p.Pro121Ser)
c.*253C>T (n.*253C>T)
n.695+1566C>T
c.202C>T (p.Pro68Ser)
c.199C>T (p.Pro67Ser)
n.436+1566C>T
2g.218584653C>ACA350569078CNOT9c.362C>A (p.Pro121His)
c.*254C>A (n.*254C>A)
n.695+1567C>A
c.203C>A (p.Pro68His)
c.200C>A (p.Pro67His)
n.436+1567C>A
2g.218584653C>GCA350569079CNOT9c.362C>G (p.Pro121Arg)
c.*254C>G (n.*254C>G)
n.695+1567C>G
c.203C>G (p.Pro68Arg)
c.200C>G (p.Pro67Arg)
n.436+1567C>G
2g.218584653C>TCA350569077CNOT9c.362C>T (p.Pro121Leu)
c.*254C>T (n.*254C>T)
n.695+1567C>T
c.203C>T (p.Pro68Leu)
c.200C>T (p.Pro67Leu)
n.436+1567C>T
2g.218584654C>ACA431228446CNOT9c.363C>A (p.Pro121=)
c.*255C>A (n.*255C>A)
n.695+1568C>A
c.204C>A (p.Pro68=)
c.201C>A (p.Pro67=)
n.436+1568C>A
2g.218584654C=CA1328827416CNOT9c.363C= (p.Pro121=)
c.*255C= (n.*255C=)
n.695+1568C=
c.204C= (p.Pro68=)
c.201C= (p.Pro67=)
n.436+1568C=
2g.218584654C>GCA431228445CNOT9c.363C>G (p.Pro121=)
c.*255C>G (n.*255C>G)
n.695+1568C>G
c.204C>G (p.Pro68=)
c.201C>G (p.Pro67=)
n.436+1568C>G
2g.218584654C>TCA2107695CNOT9c.363C>T (p.Pro121=)
c.*255C>T (n.*255C>T)
n.695+1568C>T
c.204C>T (p.Pro68=)
c.201C>T (p.Pro67=)
n.436+1568C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.218584655T>ACA350569080CNOT9c.364T>A (p.Phe122Ile)
c.*256T>A (n.*256T>A)
n.695+1569T>A
c.205T>A (p.Phe69Ile)
c.202T>A (p.Phe68Ile)
n.436+1569T>A
2g.218584655T>CCA350569081CNOT9c.364T>C (p.Phe122Leu)
c.*256T>C (n.*256T>C)
n.695+1569T>C
c.205T>C (p.Phe69Leu)
c.202T>C (p.Phe68Leu)
n.436+1569T>C
2g.218584655T>GCA350569082CNOT9c.364T>G (p.Phe122Val)
c.*256T>G (n.*256T>G)
n.695+1569T>G
c.205T>G (p.Phe69Val)
c.202T>G (p.Phe68Val)
n.436+1569T>G
2g.218584655_218584656insGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTACCA1042472623CNOT9c.364_365insGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTAC (p.Phe122CysfsTer5)
c.*256_*257insGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTAC (n.*256_*257insGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTAC)
n.695+1569_695+1570insGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTAC
c.205_206insGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTAC (p.Phe69CysfsTer5)
c.202_203insGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTAC (p.Phe68CysfsTer5)
n.436+1569_436+1570insGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTAC
 gnomAD v3 gnomAD v4
2g.218584656T>ACA350569085CNOT9c.365T>A (p.Phe122Tyr)
c.*257T>A (n.*257T>A)
n.695+1570T>A
c.206T>A (p.Phe69Tyr)
c.203T>A (p.Phe68Tyr)
n.436+1570T>A
2g.218584656T>CCA350569084CNOT9c.365T>C (p.Phe122Ser)
c.*257T>C (n.*257T>C)
n.695+1570T>C
c.206T>C (p.Phe69Ser)
c.203T>C (p.Phe68Ser)
n.436+1570T>C
2g.218584656T>GCA350569083CNOT9c.365T>G (p.Phe122Cys)
c.*257T>G (n.*257T>G)
n.695+1570T>G
c.206T>G (p.Phe69Cys)
c.203T>G (p.Phe68Cys)
n.436+1570T>G
2g.218584657T>ACA350569086CNOT9c.366T>A (p.Phe122Leu)
n.695+1571T>A
c.207T>A (p.Phe69Leu)
c.204T>A (p.Phe68Leu)
n.436+1571T>A
2g.218584657T>CCA431228447CNOT9c.366T>C (p.Phe122=)
n.695+1571T>C
c.207T>C (p.Phe69=)
c.204T>C (p.Phe68=)
n.436+1571T>C
2g.218584657T>GCA350569087CNOT9c.366T>G (p.Phe122Leu)
n.695+1571T>G
c.207T>G (p.Phe69Leu)
c.204T>G (p.Phe68Leu)
n.436+1571T>G
2g.218584658T>ACA350569088CNOT9c.367T>A (p.Leu123Met)
n.695+1572T>A
c.208T>A (p.Leu70Met)
c.205T>A (p.Leu69Met)
n.436+1572T>A
2g.218584658T>CCA431228448CNOT9c.367T>C (p.Leu123=)
n.695+1572T>C
c.208T>C (p.Leu70=)
c.205T>C (p.Leu69=)
n.436+1572T>C
2g.218584658T>GCA350569089CNOT9c.367T>G (p.Leu123Val)
n.695+1572T>G
c.208T>G (p.Leu70Val)
c.205T>G (p.Leu69Val)
n.436+1572T>G
2g.218584659T>ACA350569090CNOT9c.368T>A (p.Leu123Ter)
n.695+1573T>A
c.209T>A (p.Leu70Ter)
c.206T>A (p.Leu69Ter)
n.436+1573T>A
2g.218584659T>CCA350569091CNOT9c.368T>C (p.Leu123Ser)
n.695+1573T>C
c.209T>C (p.Leu70Ser)
c.206T>C (p.Leu69Ser)
n.436+1573T>C
2g.218584659T>GCA350569092CNOT9c.368T>G (p.Leu123Trp)
n.695+1573T>G
c.209T>G (p.Leu70Trp)
c.206T>G (p.Leu69Trp)
n.436+1573T>G
2g.218584660G>ACA2107696CNOT9c.369G>A (p.Leu123=)
n.695+1574G>A
c.210G>A (p.Leu70=)
c.207G>A (p.Leu69=)
n.436+1574G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.218584660G>CCA350569094CNOT9c.369G>C (p.Leu123Phe)
n.695+1574G>C
c.210G>C (p.Leu70Phe)
c.207G>C (p.Leu69Phe)
n.436+1574G>C
2g.218584660G=CA1328827417CNOT9c.369G= (p.Leu123=)
n.695+1574G=
c.210G= (p.Leu70=)
c.207G= (p.Leu69=)
n.436+1574G=
2g.218584660G>TCA350569093CNOT9c.369G>T (p.Leu123Phe)
n.695+1574G>T
c.210G>T (p.Leu70Phe)
c.207G>T (p.Leu69Phe)
n.436+1574G>T
2g.218584661C>ACA350569095CNOT9c.370C>A (p.His124Asn)
n.695+1575C>A
c.211C>A (p.His71Asn)
c.208C>A (p.His70Asn)
n.436+1575C>A
2g.218584661C>GCA350569096CNOT9c.370C>G (p.His124Asp)
n.695+1575C>G
c.211C>G (p.His71Asp)
c.208C>G (p.His70Asp)
n.436+1575C>G
2g.218584661C>TCA350569097CNOT9c.370C>T (p.His124Tyr)
n.695+1575C>T
c.211C>T (p.His71Tyr)
c.208C>T (p.His70Tyr)
n.436+1575C>T
2g.218584662A>CCA350569098CNOT9c.371A>C (p.His124Pro)
n.695+1576A>C
c.212A>C (p.His71Pro)
c.209A>C (p.His70Pro)
n.436+1576A>C
2g.218584662A>GCA350569099CNOT9c.371A>G (p.His124Arg)
n.695+1576A>G
c.212A>G (p.His71Arg)
c.209A>G (p.His70Arg)
n.436+1576A>G
2g.218584662A>TCA350569100CNOT9c.371A>T (p.His124Leu)
n.695+1576A>T
c.212A>T (p.His71Leu)
c.209A>T (p.His70Leu)
n.436+1576A>T
2g.218584663C>ACA350569101CNOT9c.372C>A (p.His124Gln)
n.695+1577C>A
c.213C>A (p.His71Gln)
c.210C>A (p.His70Gln)
n.436+1577C>A
2g.218584663C>GCA350569102CNOT9c.372C>G (p.His124Gln)
n.695+1577C>G
c.213C>G (p.His71Gln)
c.210C>G (p.His70Gln)
n.436+1577C>G
2g.218584663C>TCA431228449CNOT9c.372C>T (p.His124=)
n.695+1577C>T
c.213C>T (p.His71=)
c.210C>T (p.His70=)
n.436+1577C>T
2g.218584664A>CCA350569103CNOT9c.373A>C (p.Thr125Pro)
n.695+1578A>C
c.214A>C (p.Thr72Pro)
c.211A>C (p.Thr71Pro)
n.436+1578A>C
2g.218584664A>GCA350569105CNOT9c.373A>G (p.Thr125Ala)
n.695+1578A>G
c.214A>G (p.Thr72Ala)
c.211A>G (p.Thr71Ala)
n.436+1578A>G
2g.218584664A>TCA350569104CNOT9c.373A>T (p.Thr125Ser)
n.695+1578A>T
c.214A>T (p.Thr72Ser)
c.211A>T (p.Thr71Ser)
n.436+1578A>T
2g.218584665C>ACA350569106CNOT9c.374C>A (p.Thr125Asn)
n.695+1579C>A
c.215C>A (p.Thr72Asn)
c.212C>A (p.Thr71Asn)
n.436+1579C>A
2g.218584665C=CA1328827418CNOT9c.374C= (p.Thr125=)
n.695+1579C=
c.215C= (p.Thr72=)
c.212C= (p.Thr71=)
n.436+1579C=
2g.218584665C>GCA65779164CNOT9c.374C>G (p.Thr125Ser)
n.695+1579C>G
c.215C>G (p.Thr72Ser)
c.212C>G (p.Thr71Ser)
n.436+1579C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.218584665C>TCA350569107CNOT9c.374C>T (p.Thr125Ile)
n.695+1579C>T
c.215C>T (p.Thr72Ile)
c.212C>T (p.Thr71Ile)
n.436+1579C>T
 COSMIC
2g.218584666T>ACA431228450CNOT9c.375T>A (p.Thr125=)
n.695+1580T>A
c.216T>A (p.Thr72=)
c.213T>A (p.Thr71=)
n.436+1580T>A
2g.218584666T>CCA2107697CNOT9c.375T>C (p.Thr125=)
n.695+1580T>C
c.216T>C (p.Thr72=)
c.213T>C (p.Thr71=)
n.436+1580T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.218584666T>GCA431228451CNOT9c.375T>G (p.Thr125=)
n.695+1580T>G
c.216T>G (p.Thr72=)
c.213T>G (p.Thr71=)
n.436+1580T>G
 gnomAD v4
2g.218584666T=CA1328827419CNOT9c.375T= (p.Thr125=)
n.695+1580T=
c.216T= (p.Thr72=)
c.213T= (p.Thr71=)
n.436+1580T=
2g.218584667G>ACA350569108CNOT9c.376G>A (p.Val126Ile)
n.695+1581G>A
c.217G>A (p.Val73Ile)
c.214G>A (p.Val72Ile)
n.436+1581G>A
2g.218584667G>CCA350569110CNOT9c.376G>C (p.Val126Leu)
n.695+1581G>C
c.217G>C (p.Val73Leu)
c.214G>C (p.Val72Leu)
n.436+1581G>C
2g.218584667G>TCA350569109CNOT9c.376G>T (p.Val126Phe)
n.695+1581G>T
c.217G>T (p.Val73Phe)
c.214G>T (p.Val72Phe)
n.436+1581G>T
2g.218584668T>ACA350569111CNOT9c.377T>A (p.Val126Asp)
n.695+1582T>A
c.218T>A (p.Val73Asp)
c.215T>A (p.Val72Asp)
n.436+1582T>A
2g.218584668T>CCA350569112CNOT9c.377T>C (p.Val126Ala)
n.695+1582T>C
c.218T>C (p.Val73Ala)
c.215T>C (p.Val72Ala)
n.436+1582T>C
2g.218584668T>GCA350569113CNOT9c.377T>G (p.Val126Gly)
n.695+1582T>G
c.218T>G (p.Val73Gly)
c.215T>G (p.Val72Gly)
n.436+1582T>G
2g.218584669C>ACA431228452CNOT9c.378C>A (p.Val126=)
n.695+1583C>A
c.219C>A (p.Val73=)
c.216C>A (p.Val72=)
n.436+1583C>A
2g.218584669C>GCA431228453CNOT9c.378C>G (p.Val126=)
n.695+1583C>G
c.219C>G (p.Val73=)
c.216C>G (p.Val72=)
n.436+1583C>G
2g.218584669C>TCA431228454CNOT9c.378C>T (p.Val126=)
n.695+1583C>T
c.219C>T (p.Val73=)
c.216C>T (p.Val72=)
n.436+1583C>T
2g.218584670A>CCA350569114CNOT9c.379A>C (p.Ser127Arg)
n.695+1584A>C
c.220A>C (p.Ser74Arg)
c.217A>C (p.Ser73Arg)
n.436+1584A>C
2g.218584670A>GCA350569115CNOT9c.379A>G (p.Ser127Gly)
n.695+1584A>G
c.220A>G (p.Ser74Gly)
c.217A>G (p.Ser73Gly)
n.436+1584A>G
2g.218584670A>TCA350569116CNOT9c.379A>T (p.Ser127Cys)
n.695+1584A>T
c.220A>T (p.Ser74Cys)
c.217A>T (p.Ser73Cys)
n.436+1584A>T
2g.218584671G>ACA350569117CNOT9c.380G>A (p.Ser127Asn)
n.695+1585G>A
c.221G>A (p.Ser74Asn)
c.218G>A (p.Ser73Asn)
n.436+1585G>A
 gnomAD v4
2g.218584671G>CCA350569118CNOT9c.380G>C (p.Ser127Thr)
n.695+1585G>C
c.221G>C (p.Ser74Thr)
c.218G>C (p.Ser73Thr)
n.436+1585G>C
2g.218584671G>TCA350569119CNOT9c.380G>T (p.Ser127Ile)
n.695+1585G>T
c.221G>T (p.Ser74Ile)
c.218G>T (p.Ser73Ile)
n.436+1585G>T
2g.218584672C>ACA350569120CNOT9c.381C>A (p.Ser127Arg)
n.695+1586C>A
c.222C>A (p.Ser74Arg)
c.219C>A (p.Ser73Arg)
n.436+1586C>A
2g.218584672C=CA1328827420CNOT9c.381C= (p.Ser127=)
n.695+1586C=
c.222C= (p.Ser74=)
c.219C= (p.Ser73=)
n.436+1586C=
2g.218584672C>GCA350569121CNOT9c.381C>G (p.Ser127Arg)
n.695+1586C>G
c.222C>G (p.Ser74Arg)
c.219C>G (p.Ser73Arg)
n.436+1586C>G
2g.218584672C>TCA2107698CNOT9c.381C>T (p.Ser127=)
n.695+1586C>T
c.222C>T (p.Ser74=)
c.219C>T (p.Ser73=)
n.436+1586C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.218584673A>CCA350569122CNOT9c.382A>C (p.Lys128Gln)
n.695+1587A>C
c.223A>C (p.Lys75Gln)
c.220A>C (p.Lys74Gln)
n.436+1587A>C
2g.218584673A>GCA350569124CNOT9c.382A>G (p.Lys128Glu)
n.695+1587A>G
c.223A>G (p.Lys75Glu)
c.220A>G (p.Lys74Glu)
n.436+1587A>G
2g.218584673A>TCA350569123CNOT9c.382A>T (p.Lys128Ter)
n.695+1587A>T
c.223A>T (p.Lys75Ter)
c.220A>T (p.Lys74Ter)
n.436+1587A>T
2g.218584674A>CCA350569125CNOT9c.383A>C (p.Lys128Thr)
n.695+1588A>C
c.224A>C (p.Lys75Thr)
c.221A>C (p.Lys74Thr)
n.436+1588A>C
2g.218584674A>GCA350569126CNOT9c.383A>G (p.Lys128Arg)
n.695+1588A>G
c.224A>G (p.Lys75Arg)
c.221A>G (p.Lys74Arg)
n.436+1588A>G
2g.218584674A>TCA350569127CNOT9c.383A>T (p.Lys128Ile)
n.695+1588A>T
c.224A>T (p.Lys75Ile)
c.221A>T (p.Lys74Ile)
n.436+1588A>T
2g.218584675A=CA1328827421CNOT9c.384A= (p.Lys128=)
n.695+1589A=
c.225A= (p.Lys75=)
c.222A= (p.Lys74=)
n.436+1589A=
2g.218584675A>CCA350569128CNOT9c.384A>C (p.Lys128Asn)
n.695+1589A>C
c.225A>C (p.Lys75Asn)
c.222A>C (p.Lys74Asn)
n.436+1589A>C
2g.218584675A>GCA65779188CNOT9c.384A>G (p.Lys128=)
n.695+1589A>G
c.225A>G (p.Lys75=)
c.222A>G (p.Lys74=)
n.436+1589A>G
 dbSNP
2g.218584675A>TCA350569129CNOT9c.384A>T (p.Lys128Asn)
n.695+1589A>T
c.225A>T (p.Lys75Asn)
c.222A>T (p.Lys74Asn)
n.436+1589A>T
2g.218584676A>CCA350569130CNOT9c.385A>C (p.Thr129Pro)
n.695+1590A>C
c.226A>C (p.Thr76Pro)
c.223A>C (p.Thr75Pro)
n.436+1590A>C
2g.218584676A>GCA350569131CNOT9c.385A>G (p.Thr129Ala)
n.695+1590A>G
c.226A>G (p.Thr76Ala)
c.223A>G (p.Thr75Ala)
n.436+1590A>G
2g.218584676A>TCA350569132CNOT9c.385A>T (p.Thr129Ser)
n.695+1590A>T
c.226A>T (p.Thr76Ser)
c.223A>T (p.Thr75Ser)
n.436+1590A>T
2g.218584677C>ACA350569133CNOT9c.386C>A (p.Thr129Lys)
n.695+1591C>A
c.227C>A (p.Thr76Lys)
c.224C>A (p.Thr75Lys)
n.436+1591C>A
2g.218584677C>GCA350569134CNOT9c.386C>G (p.Thr129Arg)
n.695+1591C>G
c.227C>G (p.Thr76Arg)
c.224C>G (p.Thr75Arg)
n.436+1591C>G
2g.218584677C>TCA350569135CNOT9c.386C>T (p.Thr129Ile)
n.695+1591C>T
c.227C>T (p.Thr76Ile)
c.224C>T (p.Thr75Ile)
n.436+1591C>T
2g.218584678A>CCA431228455CNOT9c.387A>C (p.Thr129=)
n.695+1592A>C
c.228A>C (p.Thr76=)
c.225A>C (p.Thr75=)
n.436+1592A>C
2g.218584678A>GCA431228456CNOT9c.387A>G (p.Thr129=)
n.695+1592A>G
c.228A>G (p.Thr76=)
c.225A>G (p.Thr75=)
n.436+1592A>G
 gnomAD v4
2g.218584678A>TCA431228457CNOT9c.387A>T (p.Thr129=)
n.695+1592A>T
c.228A>T (p.Thr76=)
c.225A>T (p.Thr75=)
n.436+1592A>T
2g.218584679C>ACA350569138CNOT9c.388C>A (p.Arg130Ser)
n.695+1593C>A
c.229C>A (p.Arg77Ser)
c.226C>A (p.Arg76Ser)
n.436+1593C>A
2g.218584679C=CA1328827422CNOT9c.388C= (p.Arg130=)
n.695+1593C=
c.229C= (p.Arg77=)
c.226C= (p.Arg76=)
n.436+1593C=
2g.218584679C>GCA350569137CNOT9c.388C>G (p.Arg130Gly)
n.695+1593C>G
c.229C>G (p.Arg77Gly)
c.226C>G (p.Arg76Gly)
n.436+1593C>G
2g.218584679C>TCA350569136CNOT9c.388C>T (p.Arg130Cys)
n.695+1593C>T
c.229C>T (p.Arg77Cys)
c.226C>T (p.Arg76Cys)
n.436+1593C>T
 dbSNP gnomAD v4
2g.218584680G>ACA350569139CNOT9c.389G>A (p.Arg130His)
n.695+1594G>A
c.230G>A (p.Arg77His)
c.227G>A (p.Arg76His)
n.436+1594G>A
 dbSNP gnomAD v4
2g.218584680G>CCA350569140CNOT9c.389G>C (p.Arg130Pro)
n.695+1594G>C
c.230G>C (p.Arg77Pro)
c.227G>C (p.Arg76Pro)
n.436+1594G>C
2g.218584680G=CA1328827423CNOT9c.389G= (p.Arg130=)
n.695+1594G=
c.230G= (p.Arg77=)
c.227G= (p.Arg76=)
n.436+1594G=
2g.218584680G>TCA350569141CNOT9c.389G>T (p.Arg130Leu)
n.695+1594G>T
c.230G>T (p.Arg77Leu)
c.227G>T (p.Arg76Leu)
n.436+1594G>T
 COSMIC
2g.218584681T>ACA431228458CNOT9c.390T>A (p.Arg130=)
n.695+1595T>A
c.231T>A (p.Arg77=)
c.228T>A (p.Arg76=)
n.436+1595T>A
 COSMIC
2g.218584681T>CCA431228459CNOT9c.390T>C (p.Arg130=)
n.695+1595T>C
c.231T>C (p.Arg77=)
c.228T>C (p.Arg76=)
n.436+1595T>C
2g.218584681T>GCA431228460CNOT9c.390T>G (p.Arg130=)
n.695+1595T>G
c.231T>G (p.Arg77=)
c.228T>G (p.Arg76=)
n.436+1595T>G
2g.218584682C>ACA350569142CNOT9c.391C>A (p.Pro131Thr)
n.695+1596C>A
c.232C>A (p.Pro78Thr)
c.229C>A (p.Pro77Thr)
n.436+1596C>A
2g.218584682C=CA1328827424CNOT9c.391C= (p.Pro131=)
n.695+1596C=
c.232C= (p.Pro78=)
c.229C= (p.Pro77=)
n.436+1596C=
2g.218584682C>GCA350569143CNOT9c.391C>G (p.Pro131Ala)
n.695+1596C>G
c.232C>G (p.Pro78Ala)
c.229C>G (p.Pro77Ala)
n.436+1596C>G
2g.218584682C>TCA16602954CNOT9c.391C>T (p.Pro131Ser)
n.695+1596C>T
c.232C>T (p.Pro78Ser)
c.229C>T (p.Pro77Ser)
n.436+1596C>T
 ClinVar dbSNP COSMIC
2g.218584682_218584683delinsTTCA645517062CNOT9c.391_392delinsTT (p.Pro131Phe)
n.695+1596_695+1597delinsTT
c.232_233delinsTT (p.Pro78Phe)
c.229_230delinsTT (p.Pro77Phe)
n.436+1596_436+1597delinsTT
 COSMIC
2g.218584683C>ACA350569144CNOT9c.392C>A (p.Pro131His)
n.695+1597C>A
c.233C>A (p.Pro78His)
c.230C>A (p.Pro77His)
n.436+1597C>A
2g.218584683C=CA1328827425CNOT9c.392C= (p.Pro131=)
n.695+1597C=
c.233C= (p.Pro78=)
c.230C= (p.Pro77=)
n.436+1597C=
2g.218584683C>GCA350569145CNOT9c.392C>G (p.Pro131Arg)
n.695+1597C>G
c.233C>G (p.Pro78Arg)
c.230C>G (p.Pro77Arg)
n.436+1597C>G
2g.218584683C>TCA16602256CNOT9c.392C>T (p.Pro131Leu)
n.695+1597C>T
c.233C>T (p.Pro78Leu)
c.230C>T (p.Pro77Leu)
n.436+1597C>T
 ClinVar dbSNP COSMIC
2g.218584683_218584684delinsTTCA645517063CNOT9c.392_393delinsTT (p.Pro131Leu)
n.695+1597_695+1598delinsTT
c.233_234delinsTT (p.Pro78Leu)
c.230_231delinsTT (p.Pro77Leu)
n.436+1597_436+1598delinsTT
 COSMIC
2g.218584684C>ACA431228461CNOT9c.393C>A (p.Pro131=)
n.695+1598C>A
c.234C>A (p.Pro78=)
c.231C>A (p.Pro77=)
n.436+1598C>A
2g.218584684C>GCA431228462CNOT9c.393C>G (p.Pro131=)
n.695+1598C>G
c.234C>G (p.Pro78=)
c.231C>G (p.Pro77=)
n.436+1598C>G
2g.218584684C>TCA431228463CNOT9c.393C>T (p.Pro131=)
n.695+1598C>T
c.234C>T (p.Pro78=)
c.231C>T (p.Pro77=)
n.436+1598C>T
 gnomAD v4
2g.218584685T>ACA350569146CNOT9c.394T>A (p.Phe132Ile)
n.695+1599T>A
c.235T>A (p.Phe79Ile)
c.232T>A (p.Phe78Ile)
n.436+1599T>A
2g.218584685T>CCA350569147CNOT9c.394T>C (p.Phe132Leu)
n.695+1599T>C
c.235T>C (p.Phe79Leu)
c.232T>C (p.Phe78Leu)
n.436+1599T>C
2g.218584685T>GCA350569148CNOT9c.394T>G (p.Phe132Val)
n.695+1599T>G
c.235T>G (p.Phe79Val)
c.232T>G (p.Phe78Val)
n.436+1599T>G
2g.218584686T>ACA350569151CNOT9c.395T>A (p.Phe132Tyr)
n.695+1600T>A
c.236T>A (p.Phe79Tyr)
c.233T>A (p.Phe78Tyr)
n.436+1600T>A
2g.218584686T>CCA350569149CNOT9c.395T>C (p.Phe132Ser)
n.695+1600T>C
c.236T>C (p.Phe79Ser)
c.233T>C (p.Phe78Ser)
n.436+1600T>C
2g.218584686T>GCA350569150CNOT9c.395T>G (p.Phe132Cys)
n.695+1600T>G
c.236T>G (p.Phe79Cys)
c.233T>G (p.Phe78Cys)
n.436+1600T>G
2g.218584687T>ACA350569152CNOT9c.396T>A (p.Phe132Leu)
n.695+1601T>A
c.237T>A (p.Phe79Leu)
c.234T>A (p.Phe78Leu)
n.436+1601T>A
2g.218584687T>CCA431228464CNOT9c.396T>C (p.Phe132=)
n.695+1601T>C
c.237T>C (p.Phe79=)
c.234T>C (p.Phe78=)
n.436+1601T>C
2g.218584687T>GCA350569153CNOT9c.396T>G (p.Phe132Leu)
n.695+1601T>G
c.237T>G (p.Phe79Leu)
c.234T>G (p.Phe78Leu)
n.436+1601T>G
2g.218584688G>ACA350569154CNOT9c.397G>A (p.Glu133Lys)
n.695+1602G>A
c.238G>A (p.Glu80Lys)
c.235G>A (p.Glu79Lys)
n.436+1602G>A
2g.218584688G>CCA350569156CNOT9c.397G>C (p.Glu133Gln)
n.695+1602G>C
c.238G>C (p.Glu80Gln)
c.235G>C (p.Glu79Gln)
n.436+1602G>C
2g.218584688G>TCA350569155CNOT9c.397G>T (p.Glu133Ter)
n.695+1602G>T
c.238G>T (p.Glu80Ter)
c.235G>T (p.Glu79Ter)
n.436+1602G>T
2g.218584689A>CCA350569157CNOT9c.398A>C (p.Glu133Ala)
n.695+1603A>C
c.239A>C (p.Glu80Ala)
c.236A>C (p.Glu79Ala)
n.436+1603A>C
2g.218584689A>GCA350569159CNOT9c.398A>G (p.Glu133Gly)
n.695+1603A>G
c.239A>G (p.Glu80Gly)
c.236A>G (p.Glu79Gly)
n.436+1603A>G
2g.218584689A>TCA350569158CNOT9c.398A>T (p.Glu133Val)
n.695+1603A>T
c.239A>T (p.Glu80Val)
c.236A>T (p.Glu79Val)
n.436+1603A>T
2g.218584690G>ACA431228465CNOT9c.399G>A (p.Glu133=)
n.695+1604G>A
c.240G>A (p.Glu80=)
c.237G>A (p.Glu79=)
n.436+1604G>A
 gnomAD v4
2g.218584690G>CCA350569160CNOT9c.399G>C (p.Glu133Asp)
n.695+1604G>C
c.240G>C (p.Glu80Asp)
c.237G>C (p.Glu79Asp)
n.436+1604G>C
 gnomAD v4
2g.218584690G>TCA350569161CNOT9c.399G>T (p.Glu133Asp)
n.695+1604G>T
c.240G>T (p.Glu80Asp)
c.237G>T (p.Glu79Asp)
n.436+1604G>T
2g.218584691T>ACA350569162CNOT9c.400T>A (p.Tyr134Asn)
n.695+1605T>A
c.241T>A (p.Tyr81Asn)
c.238T>A (p.Tyr80Asn)
n.436+1605T>A
2g.218584691T>CCA350569163CNOT9c.400T>C (p.Tyr134His)
n.695+1605T>C
c.241T>C (p.Tyr81His)
c.238T>C (p.Tyr80His)
n.436+1605T>C
2g.218584691T>GCA350569164CNOT9c.400T>G (p.Tyr134Asp)
n.695+1605T>G
c.241T>G (p.Tyr81Asp)
c.238T>G (p.Tyr80Asp)
n.436+1605T>G
2g.218584692A>CCA350569165CNOT9c.401A>C (p.Tyr134Ser)
n.695+1606A>C
c.242A>C (p.Tyr81Ser)
c.239A>C (p.Tyr80Ser)
n.436+1606A>C
2g.218584692A>GCA350569166CNOT9c.401A>G (p.Tyr134Cys)
n.695+1606A>G
c.242A>G (p.Tyr81Cys)
c.239A>G (p.Tyr80Cys)
n.436+1606A>G
2g.218584692A>TCA350569167CNOT9c.401A>T (p.Tyr134Phe)
n.695+1606A>T
c.242A>T (p.Tyr81Phe)
c.239A>T (p.Tyr80Phe)
n.436+1606A>T
2g.218584693T>ACA350569168CNOT9c.402T>A (p.Tyr134Ter)
n.695+1607T>A
c.243T>A (p.Tyr81Ter)
c.240T>A (p.Tyr80Ter)
n.436+1607T>A
2g.218584693T>CCA431228466CNOT9c.402T>C (p.Tyr134=)
n.695+1607T>C
c.243T>C (p.Tyr81=)
c.240T>C (p.Tyr80=)
n.436+1607T>C
 dbSNP gnomAD v4
2g.218584693T>GCA350569169CNOT9c.402T>G (p.Tyr134Ter)
n.695+1607T>G
c.243T>G (p.Tyr81Ter)
c.240T>G (p.Tyr80Ter)
n.436+1607T>G
2g.218584693T=CA1328827426CNOT9c.402T= (p.Tyr134=)
n.695+1607T=
c.243T= (p.Tyr81=)
c.240T= (p.Tyr80=)
n.436+1607T=
2g.218584694C>ACA350569172CNOT9c.403C>A (p.Leu135Ile)
n.695+1608C>A
c.244C>A (p.Leu82Ile)
c.241C>A (p.Leu81Ile)
n.436+1608C>A
2g.218584694C>GCA350569171CNOT9c.403C>G (p.Leu135Val)
n.695+1608C>G
c.244C>G (p.Leu82Val)
c.241C>G (p.Leu81Val)
n.436+1608C>G
2g.218584694C>TCA350569170CNOT9c.403C>T (p.Leu135Phe)
n.695+1608C>T
c.244C>T (p.Leu82Phe)
c.241C>T (p.Leu81Phe)
n.436+1608C>T
2g.218584695T>ACA350569173CNOT9c.404T>A (p.Leu135His)
n.695+1609T>A
c.245T>A (p.Leu82His)
c.242T>A (p.Leu81His)
n.436+1609T>A
2g.218584695T>CCA350569174CNOT9c.404T>C (p.Leu135Pro)
n.695+1609T>C
c.245T>C (p.Leu82Pro)
c.242T>C (p.Leu81Pro)
n.436+1609T>C
2g.218584695T>GCA350569175CNOT9c.404T>G (p.Leu135Arg)
n.695+1609T>G
c.245T>G (p.Leu82Arg)
c.242T>G (p.Leu81Arg)
n.436+1609T>G
2g.218584696C>ACA431228467CNOT9c.405C>A (p.Leu135=)
n.695+1610C>A
c.246C>A (p.Leu82=)
c.243C>A (p.Leu81=)
n.436+1610C>A
2g.218584696C=CA1328827427CNOT9c.405C= (p.Leu135=)
n.695+1610C=
c.246C= (p.Leu82=)
c.243C= (p.Leu81=)
n.436+1610C=
2g.218584696C>GCA431228468CNOT9c.405C>G (p.Leu135=)
n.695+1610C>G
c.246C>G (p.Leu82=)
c.243C>G (p.Leu81=)
n.436+1610C>G
 dbSNP gnomAD v2 gnomAD v4
2g.218584696C>TCA431228469CNOT9c.405C>T (p.Leu135=)
n.695+1610C>T
c.246C>T (p.Leu82=)
c.243C>T (p.Leu81=)
n.436+1610C>T
 dbSNP
2g.218584697C>ACA431228470CNOT9c.406C>A (p.Arg136=)
n.695+1611C>A
c.247C>A (p.Arg83=)
c.244C>A (p.Arg82=)
n.436+1611C>A
 dbSNP
2g.218584697C=CA1328827428CNOT9c.406C= (p.Arg136=)
n.695+1611C=
c.247C= (p.Arg83=)
c.244C= (p.Arg82=)
n.436+1611C=
2g.218584697C>GCA350569176CNOT9c.406C>G (p.Arg136Gly)
n.695+1611C>G
c.247C>G (p.Arg83Gly)
c.244C>G (p.Arg82Gly)
n.436+1611C>G
2g.218584697C>TCA350569177CNOT9c.406C>T (p.Arg136Trp)
n.695+1611C>T
c.247C>T (p.Arg83Trp)
c.244C>T (p.Arg82Trp)
n.436+1611C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.218584698G>ACA350569178CNOT9c.407G>A (p.Arg136Gln)
n.695+1612G>A
c.248G>A (p.Arg83Gln)
c.245G>A (p.Arg82Gln)
n.436+1612G>A
 COSMIC
2g.218584698G>CCA350569179CNOT9c.407G>C (p.Arg136Pro)
n.695+1612G>C
c.248G>C (p.Arg83Pro)
c.245G>C (p.Arg82Pro)
n.436+1612G>C
2g.218584698G>TCA350569180CNOT9c.407G>T (p.Arg136Leu)
n.695+1612G>T
c.248G>T (p.Arg83Leu)
c.245G>T (p.Arg82Leu)
n.436+1612G>T
2g.218584699G>ACA431228472CNOT9c.408G>A (p.Arg136=)
n.695+1613G>A
c.249G>A (p.Arg83=)
c.246G>A (p.Arg82=)
n.436+1613G>A
 gnomAD v4
2g.218584699G>CCA431228473CNOT9c.408G>C (p.Arg136=)
n.695+1613G>C
c.249G>C (p.Arg83=)
c.246G>C (p.Arg82=)
n.436+1613G>C
2g.218584699G=CA1328827429CNOT9c.408G= (p.Arg136=)
n.695+1613G=
c.249G= (p.Arg83=)
c.246G= (p.Arg82=)
n.436+1613G=
2g.218584699G>TCA431228474CNOT9c.408G>T (p.Arg136=)
n.695+1613G>T
c.249G>T (p.Arg83=)
c.246G>T (p.Arg82=)
n.436+1613G>T
 dbSNP gnomAD v2 gnomAD v4
2g.218584700C>ACA350569181CNOT9c.409C>A (p.Leu137Ile)
n.695+1614C>A
c.250C>A (p.Leu84Ile)
c.247C>A (p.Leu83Ile)
n.436+1614C>A
2g.218584700C>GCA350569182CNOT9c.409C>G (p.Leu137Val)
n.695+1614C>G
c.250C>G (p.Leu84Val)
c.247C>G (p.Leu83Val)
n.436+1614C>G
2g.218584700C>TCA350569183CNOT9c.409C>T (p.Leu137Phe)
n.695+1614C>T
c.250C>T (p.Leu84Phe)
c.247C>T (p.Leu83Phe)
n.436+1614C>T
2g.218584701T>ACA350569186CNOT9c.410T>A (p.Leu137His)
n.695+1615T>A
c.251T>A (p.Leu84His)
c.248T>A (p.Leu83His)
n.436+1615T>A
2g.218584701T>CCA350569185CNOT9c.410T>C (p.Leu137Pro)
n.695+1615T>C
c.251T>C (p.Leu84Pro)
c.248T>C (p.Leu83Pro)
n.436+1615T>C
2g.218584701T>GCA350569184CNOT9c.410T>G (p.Leu137Arg)
n.695+1615T>G
c.251T>G (p.Leu84Arg)
c.248T>G (p.Leu83Arg)
n.436+1615T>G
2g.218584702C>ACA431228476CNOT9c.411C>A (p.Leu137=)
n.695+1616C>A
c.252C>A (p.Leu84=)
c.249C>A (p.Leu83=)
n.436+1616C>A
2g.218584702C=CA1328827430CNOT9c.411C= (p.Leu137=)
n.695+1616C=
c.252C= (p.Leu84=)
c.249C= (p.Leu83=)
n.436+1616C=
2g.218584702C>GCA431228475CNOT9c.411C>G (p.Leu137=)
n.695+1616C>G
c.252C>G (p.Leu84=)
c.249C>G (p.Leu83=)
n.436+1616C>G
2g.218584702C>TCA2107699CNOT9c.411C>T (p.Leu137=)
n.695+1616C>T
c.252C>T (p.Leu84=)
c.249C>T (p.Leu83=)
n.436+1616C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.218584703A>CCA350569187CNOT9c.412A>C (p.Thr138Pro)
n.695+1617A>C
c.253A>C (p.Thr85Pro)
c.250A>C (p.Thr84Pro)
n.436+1617A>C
2g.218584703A>GCA350569188CNOT9c.412A>G (p.Thr138Ala)
n.695+1617A>G
c.253A>G (p.Thr85Ala)
c.250A>G (p.Thr84Ala)
n.436+1617A>G
2g.218584703A>TCA350569189CNOT9c.412A>T (p.Thr138Ser)
n.695+1617A>T
c.253A>T (p.Thr85Ser)
c.250A>T (p.Thr84Ser)
n.436+1617A>T
2g.218584704C>ACA350569190CNOT9c.413C>A (p.Thr138Asn)
n.695+1618C>A
c.254C>A (p.Thr85Asn)
c.251C>A (p.Thr84Asn)
n.436+1618C>A
 gnomAD v4
2g.218584704C>GCA350569191CNOT9c.413C>G (p.Thr138Ser)
n.695+1618C>G
c.254C>G (p.Thr85Ser)
c.251C>G (p.Thr84Ser)
n.436+1618C>G
2g.218584704C>TCA350569192CNOT9c.413C>T (p.Thr138Ile)
n.695+1618C>T
c.254C>T (p.Thr85Ile)
c.251C>T (p.Thr84Ile)
n.436+1618C>T
2g.218584705delCA2577244319CNOT9c.414del (p.Ser139AlafsTer9)
c.414del (p.Ser139AlafsTer6)
n.695+1619del
c.255del (p.Ser86AlafsTer9)
c.252del (p.Ser85AlafsTer9)
n.436+1619del
2g.218584705C>ACA431228477CNOT9c.414C>A (p.Thr138=)
n.695+1619C>A
c.255C>A (p.Thr85=)
c.252C>A (p.Thr84=)
n.436+1619C>A
2g.218584705C>GCA431228478CNOT9c.414C>G (p.Thr138=)
n.695+1619C>G
c.255C>G (p.Thr85=)
c.252C>G (p.Thr84=)
n.436+1619C>G
2g.218584705C>TCA431228479CNOT9c.414C>T (p.Thr138=)
n.695+1619C>T
c.255C>T (p.Thr85=)
c.252C>T (p.Thr84=)
n.436+1619C>T
2g.218584706A>CCA350569193CNOT9c.415A>C (p.Ser139Arg)
n.695+1620A>C
c.256A>C (p.Ser86Arg)
c.253A>C (p.Ser85Arg)
n.436+1620A>C
2g.218584706A>GCA350569194CNOT9c.415A>G (p.Ser139Gly)
n.695+1620A>G
c.256A>G (p.Ser86Gly)
c.253A>G (p.Ser85Gly)
n.436+1620A>G
2g.218584706A>TCA350569195CNOT9c.415A>T (p.Ser139Cys)
n.695+1620A>T
c.256A>T (p.Ser86Cys)
c.253A>T (p.Ser85Cys)
n.436+1620A>T
2g.218584707G>ACA350569196CNOT9c.416G>A (p.Ser139Asn)
n.695+1621G>A
c.257G>A (p.Ser86Asn)
c.254G>A (p.Ser85Asn)
n.436+1621G>A
 COSMIC
2g.218584707G>CCA350569197CNOT9c.416G>C (p.Ser139Thr)
n.695+1621G>C
c.257G>C (p.Ser86Thr)
c.254G>C (p.Ser85Thr)
n.436+1621G>C
2g.218584707G>TCA350569198CNOT9c.416G>T (p.Ser139Ile)
n.695+1621G>T
c.257G>T (p.Ser86Ile)
c.254G>T (p.Ser85Ile)
n.436+1621G>T
2g.218584708C>ACA350569199CNOT9c.417C>A (p.Ser139Arg)
n.695+1622C>A
c.258C>A (p.Ser86Arg)
c.255C>A (p.Ser85Arg)
n.436+1622C>A
2g.218584708C>GCA350569200CNOT9c.417C>G (p.Ser139Arg)
n.695+1622C>G
c.258C>G (p.Ser86Arg)
c.255C>G (p.Ser85Arg)
n.436+1622C>G
2g.218584708C>TCA431228480CNOT9c.417C>T (p.Ser139=)
n.695+1622C>T
c.258C>T (p.Ser86=)
c.255C>T (p.Ser85=)
n.436+1622C>T
 gnomAD v4
2g.218584709C>ACA350569201CNOT9c.418C>A (p.Leu140Ile)
n.695+1623C>A
c.259C>A (p.Leu87Ile)
c.256C>A (p.Leu86Ile)
n.436+1623C>A
2g.218584709C>GCA350569202CNOT9c.418C>G (p.Leu140Val)
n.695+1623C>G
c.259C>G (p.Leu87Val)
c.256C>G (p.Leu86Val)
n.436+1623C>G
2g.218584709C>TCA350569203CNOT9c.418C>T (p.Leu140Phe)
n.695+1623C>T
c.259C>T (p.Leu87Phe)
c.256C>T (p.Leu86Phe)
n.436+1623C>T
2g.218584710T>ACA350569204CNOT9c.419T>A (p.Leu140His)
n.695+1624T>A
c.260T>A (p.Leu87His)
c.257T>A (p.Leu86His)
n.436+1624T>A
2g.218584710T>CCA350569205CNOT9c.419T>C (p.Leu140Pro)
n.695+1624T>C
c.260T>C (p.Leu87Pro)
c.257T>C (p.Leu86Pro)
n.436+1624T>C
2g.218584710T>GCA350569206CNOT9c.419T>G (p.Leu140Arg)
n.695+1624T>G
c.260T>G (p.Leu87Arg)
c.257T>G (p.Leu86Arg)
n.436+1624T>G
2g.218584711T>ACA431228481CNOT9c.420T>A (p.Leu140=)
n.695+1625T>A
c.261T>A (p.Leu87=)
c.258T>A (p.Leu86=)
n.436+1625T>A
2g.218584711T>CCA431228482CNOT9c.420T>C (p.Leu140=)
n.695+1625T>C
c.261T>C (p.Leu87=)
c.258T>C (p.Leu86=)
n.436+1625T>C
2g.218584711T>GCA431228483CNOT9c.420T>G (p.Leu140=)
n.695+1625T>G
c.261T>G (p.Leu87=)
c.258T>G (p.Leu86=)
n.436+1625T>G
2g.218584712G>ACA350569207CNOT9c.421G>A (p.Gly141Arg)
n.695+1626G>A
c.262G>A (p.Gly88Arg)
c.259G>A (p.Gly87Arg)
n.436+1626G>A
2g.218584712G>CCA350569208CNOT9c.421G>C (p.Gly141Arg)
n.695+1626G>C
c.262G>C (p.Gly88Arg)
c.259G>C (p.Gly87Arg)
n.436+1626G>C
2g.218584712G>TCA350569209CNOT9c.421G>T (p.Gly141Ter)
n.695+1626G>T
c.262G>T (p.Gly88Ter)
c.259G>T (p.Gly87Ter)
n.436+1626G>T
2g.218584713G>ACA350569210CNOT9c.422G>A (p.Gly141Glu)
n.695+1627G>A
c.263G>A (p.Gly88Glu)
c.260G>A (p.Gly87Glu)
n.436+1627G>A
2g.218584713G>CCA350569211CNOT9c.422G>C (p.Gly141Ala)
n.695+1627G>C
c.263G>C (p.Gly88Ala)
c.260G>C (p.Gly87Ala)
n.436+1627G>C
2g.218584713G>TCA350569212CNOT9c.422G>T (p.Gly141Val)
n.695+1627G>T
c.263G>T (p.Gly88Val)
c.260G>T (p.Gly87Val)
n.436+1627G>T
2g.218584714A>CCA431228484CNOT9c.423A>C (p.Gly141=)
n.695+1628A>C
c.264A>C (p.Gly88=)
c.261A>C (p.Gly87=)
n.436+1628A>C
2g.218584714A>GCA431228485CNOT9c.423A>G (p.Gly141=)
n.695+1628A>G
c.264A>G (p.Gly88=)
c.261A>G (p.Gly87=)
n.436+1628A>G
2g.218584714A>TCA431228486CNOT9c.423A>T (p.Gly141=)
n.695+1628A>T
c.264A>T (p.Gly88=)
c.261A>T (p.Gly87=)
n.436+1628A>T
2g.218584715G>ACA350569214CNOT9c.424G>A (p.Val142Ile)
n.695+1629G>A
c.265G>A (p.Val89Ile)
c.262G>A (p.Val88Ile)
n.436+1629G>A
2g.218584715G>CCA350569215CNOT9c.424G>C (p.Val142Leu)
n.695+1629G>C
c.265G>C (p.Val89Leu)
c.262G>C (p.Val88Leu)
n.436+1629G>C
2g.218584715G>TCA350569213CNOT9c.424G>T (p.Val142Phe)
n.695+1629G>T
c.265G>T (p.Val89Phe)
c.262G>T (p.Val88Phe)
n.436+1629G>T
2g.218584716T>ACA350569218CNOT9c.425T>A (p.Val142Asp)
n.695+1630T>A
c.266T>A (p.Val89Asp)
c.263T>A (p.Val88Asp)
n.436+1630T>A
2g.218584716T>CCA350569216CNOT9c.425T>C (p.Val142Ala)
n.695+1630T>C
c.266T>C (p.Val89Ala)
c.263T>C (p.Val88Ala)
n.436+1630T>C
2g.218584716T>GCA350569217CNOT9c.425T>G (p.Val142Gly)
n.695+1630T>G
c.266T>G (p.Val89Gly)
c.263T>G (p.Val88Gly)
n.436+1630T>G
2g.218584717T>ACA431228488CNOT9c.426T>A (p.Val142=)
n.695+1631T>A
c.267T>A (p.Val89=)
c.264T>A (p.Val88=)
n.436+1631T>A
2g.218584717T>CCA431228490CNOT9c.426T>C (p.Val142=)
n.695+1631T>C
c.267T>C (p.Val89=)
c.264T>C (p.Val88=)
n.436+1631T>C
2g.218584717T>GCA431228491CNOT9c.426T>G (p.Val142=)
n.695+1631T>G
c.267T>G (p.Val89=)
c.264T>G (p.Val88=)
n.436+1631T>G
2g.218584718A>CCA350569219CNOT9c.427A>C (p.Ile143Leu)
n.695+1632A>C
c.268A>C (p.Ile90Leu)
c.265A>C (p.Ile89Leu)
n.436+1632A>C
2g.218584718A>GCA350569220CNOT9c.427A>G (p.Ile143Val)
n.695+1632A>G
c.268A>G (p.Ile90Val)
c.265A>G (p.Ile89Val)
n.436+1632A>G
2g.218584718A>TCA350569221CNOT9c.427A>T (p.Ile143Phe)
n.695+1632A>T
c.268A>T (p.Ile90Phe)
c.265A>T (p.Ile89Phe)
n.436+1632A>T
2g.218584719T>ACA350569222CNOT9c.428T>A (p.Ile143Asn)
n.695+1633T>A
c.269T>A (p.Ile90Asn)
c.266T>A (p.Ile89Asn)
n.436+1633T>A
2g.218584719T>CCA350569223CNOT9c.428T>C (p.Ile143Thr)
n.695+1633T>C
c.269T>C (p.Ile90Thr)
c.266T>C (p.Ile89Thr)
n.436+1633T>C
2g.218584719T>GCA350569224CNOT9c.428T>G (p.Ile143Ser)
n.695+1633T>G
c.269T>G (p.Ile90Ser)
c.266T>G (p.Ile89Ser)
n.436+1633T>G
2g.218584720T>ACA431228493CNOT9c.429T>A (p.Ile143=)
n.695+1634T>A
c.270T>A (p.Ile90=)
c.267T>A (p.Ile89=)
n.436+1634T>A
2g.218584720T>CCA431228494CNOT9c.429T>C (p.Ile143=)
n.695+1634T>C
c.270T>C (p.Ile90=)
c.267T>C (p.Ile89=)
n.436+1634T>C
 gnomAD v4
2g.218584720T>GCA350569225CNOT9c.429T>G (p.Ile143Met)
n.695+1634T>G
c.270T>G (p.Ile90Met)
c.267T>G (p.Ile89Met)
n.436+1634T>G
2g.218584721G>ACA350569226CNOT9c.430G>A (p.Gly144Arg)
c.430G>A (p.Val144Ile)
n.695+1635G>A
c.271G>A (p.Gly91Arg)
c.268G>A (p.Gly90Arg)
n.436+1635G>A
2g.218584721G>CCA350569227CNOT9c.430G>C (p.Gly144Arg)
c.430G>C (p.Val144Leu)
n.695+1635G>C
c.271G>C (p.Gly91Arg)
c.268G>C (p.Gly90Arg)
n.436+1635G>C
2g.218584721G>TCA350569228CNOT9c.430G>T (p.Gly144Trp)
c.430G>T (p.Val144Leu)
n.695+1635G>T
c.271G>T (p.Gly91Trp)
c.268G>T (p.Gly90Trp)
n.436+1635G>T
2g.218584722G>ACA350569230CNOT9c.430+1G>A (n.430+1G>A)
n.695+1636G>A
c.271+1G>A (n.271+1G>A)
c.268+1G>A (n.268+1G>A)
n.436+1636G>A
2g.218584722G>CCA350569231CNOT9c.430+1G>C (n.430+1G>C)
n.695+1636G>C
c.271+1G>C (n.271+1G>C)
c.268+1G>C (n.268+1G>C)
n.436+1636G>C
2g.218584722G>TCA350569229CNOT9c.430+1G>T (n.430+1G>T)
n.695+1636G>T
c.271+1G>T (n.271+1G>T)
c.268+1G>T (n.268+1G>T)
n.436+1636G>T
2g.218584723T>ACA350569232CNOT9c.430+2T>A (n.430+2T>A)
n.695+1637T>A
c.271+2T>A (n.271+2T>A)
c.268+2T>A (n.268+2T>A)
n.436+1637T>A
2g.218584723T>CCA350569233CNOT9c.430+2T>C (n.430+2T>C)
n.695+1637T>C
c.271+2T>C (n.271+2T>C)
c.268+2T>C (n.268+2T>C)
n.436+1637T>C
2g.218584723T>GCA350569234CNOT9c.430+2T>G (n.430+2T>G)
n.695+1637T>G
c.271+2T>G (n.271+2T>G)
c.268+2T>G (n.268+2T>G)
n.436+1637T>G
2g.218584725delCA2663139211CNOT9c.430+4del (n.430+4del)
n.695+1639del
c.271+4del (n.271+4del)
c.268+4del (n.268+4del)
n.436+1639del
 gnomAD v4
2g.218584730T>CCA1042472633CNOT9c.430+9T>C (n.430+9T>C)
n.695+1644T>C
c.271+9T>C (n.271+9T>C)
c.268+9T>C (n.268+9T>C)
n.436+1644T>C
 dbSNP gnomAD v3 gnomAD v4
2g.218584730T=CA1328827431CNOT9c.430+9T= (n.430+9T=)
n.695+1644T=
c.271+9T= (n.271+9T=)
c.268+9T= (n.268+9T=)
n.436+1644T=
2g.218584731delCA2577244320CNOT9c.430+10del (n.430+10del)
n.695+1645del
c.271+10del (n.271+10del)
c.268+10del (n.268+10del)
n.436+1645del
2g.218584731T>CCA2663139212CNOT9c.430+10T>C (n.430+10T>C)
n.695+1645T>C
c.271+10T>C (n.271+10T>C)
c.268+10T>C (n.268+10T>C)
n.436+1645T>C
 gnomAD v4
2g.218584732A=CA1328827432CNOT9c.430+11A= (n.430+11A=)
n.695+1646A=
c.271+11A= (n.271+11A=)
c.268+11A= (n.268+11A=)
n.436+1646A=
2g.218584732A>GCA539605241CNOT9c.430+11A>G (n.430+11A>G)
n.695+1646A>G
c.271+11A>G (n.271+11A>G)
c.268+11A>G (n.268+11A>G)
n.436+1646A>G
 dbSNP gnomAD v2 gnomAD v4
2g.218584733G>ACA2107700CNOT9c.430+12G>A (n.430+12G>A)
n.695+1647G>A
c.271+12G>A (n.271+12G>A)
c.268+12G>A (n.268+12G>A)
n.436+1647G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.218584733G=CA1328827433CNOT9c.430+12G= (n.430+12G=)
n.695+1647G=
c.271+12G= (n.271+12G=)
c.268+12G= (n.268+12G=)
n.436+1647G=
2g.218584734A=CA1328827434CNOT9c.430+13A= (n.430+13A=)
n.695+1648A=
c.271+13A= (n.271+13A=)
c.268+13A= (n.268+13A=)
n.436+1648A=
2g.218584734A>GCA65779221CNOT9c.430+13A>G (n.430+13A>G)
n.695+1648A>G
c.271+13A>G (n.271+13A>G)
c.268+13A>G (n.268+13A>G)
n.436+1648A>G
 dbSNP gnomAD v4

Number of alleles fetched