Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.111401041G>ACA518113949DCXc.654C>T (p.Ile218=)
c.897C>T (p.Ile299=)
c.872C>T
n.894C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.111401041G>CCA414245905DCXc.654C>G (p.Ile218Met)
c.897C>G (p.Ile299Met)
c.872C>G
n.894C>G
Xg.111401041G=CA2451697211DCXc.654C= (p.Ile218=)
c.897C= (p.Ile299=)
c.872C=
n.894C=
Xg.111401041G>TCA518113948DCXc.654C>A (p.Ile218=)
c.897C>A (p.Ile299=)
c.872C>A
n.894C>A
Xg.111401042A>CCA414245906DCXc.653T>G (p.Ile218Ser)
c.896T>G (p.Ile299Ser)
c.871T>G
n.893T>G
Xg.111401042A>GCA414245907DCXc.653T>C (p.Ile218Thr)
c.896T>C (p.Ile299Thr)
c.871T>C
n.893T>C
Xg.111401042A>TCA414245908DCXc.653T>A (p.Ile218Asn)
c.896T>A (p.Ile299Asn)
c.871T>A
n.893T>A
Xg.111401043T>ACA414245909DCXc.652A>T (p.Ile218Phe)
c.895A>T (p.Ile299Phe)
c.870A>T
n.892A>T
Xg.111401043T>CCA414245910DCXc.652A>G (p.Ile218Val)
c.895A>G (p.Ile299Val)
c.870A>G
n.892A>G
Xg.111401043T>GCA414245911DCXc.652A>C (p.Ile218Leu)
c.895A>C (p.Ile299Leu)
c.870A>C
n.892A>C
Xg.111401043_111401044delinsTGCA2451697212DCXc.651_652delinsCA (p.Ala217=)
c.894_895delinsCA (p.Ala298=)
c.869_870delinsCA
n.891_892delinsCA
Xg.111401044G>ACA518113950DCXc.651C>T (p.Ala217=)
c.894C>T (p.Ala298=)
c.869C>T
n.891C>T
Xg.111401044G>CCA518113951DCXc.651C>G (p.Ala217=)
c.894C>G (p.Ala298=)
c.869C>G
n.891C>G
Xg.111401044G>TCA518113952DCXc.651C>A (p.Ala217=)
c.894C>A (p.Ala298=)
c.869C>A
n.891C>A
Xg.111401045delCA172044DCXc.651del (p.Ile218SerfsTer19)
c.894del (p.Ile299SerfsTer19)
c.869del
n.891del
ClinVar dbSNP
Xg.111401045G>ACA414245912DCXc.650C>T (p.Ala217Val)
c.893C>T (p.Ala298Val)
c.868C>T
n.890C>T
Xg.111401045G>CCA414245913DCXc.650C>G (p.Ala217Gly)
c.893C>G (p.Ala298Gly)
c.868C>G
n.890C>G
Xg.111401045G>TCA414245914DCXc.650C>A (p.Ala217Asp)
c.893C>A (p.Ala298Asp)
c.868C>A
n.890C>A
Xg.111401046C>ACA414245915DCXc.649G>T (p.Ala217Ser)
c.892G>T (p.Ala298Ser)
c.867G>T
n.889G>T
Xg.111401046C=CA2451697213DCXc.649G= (p.Ala217=)
c.892G= (p.Ala298=)
c.867G=
n.889G=
Xg.111401046C>GCA414245916DCXc.649G>C (p.Ala217Pro)
c.892G>C (p.Ala298Pro)
c.867G>C
n.889G>C
Xg.111401046C>TCA414245917DCXc.649G>A (p.Ala217Thr)
c.892G>A (p.Ala298Thr)
c.867G>A
n.889G>A
dbSNP gnomAD v2 gnomAD v4
Xg.111401047T>ACA414245919DCXc.648A>T (p.Glu216Asp)
c.891A>T (p.Glu297Asp)
c.866A>T
n.888A>T
Xg.111401047T>CCA518113953DCXc.648A>G (p.Glu216=)
c.891A>G (p.Glu297=)
c.866A>G
n.888A>G
Xg.111401047T>GCA414245918DCXc.648A>C (p.Glu216Asp)
c.891A>C (p.Glu297Asp)
c.866A>C
n.888A>C
Xg.111401048T>ACA414245920DCXc.647A>T (p.Glu216Val)
c.890A>T (p.Glu297Val)
c.865A>T
n.887A>T
Xg.111401048T>CCA414245921DCXc.647A>G (p.Glu216Gly)
c.890A>G (p.Glu297Gly)
c.865A>G
n.887A>G
Xg.111401048T>GCA414245922DCXc.647A>C (p.Glu216Ala)
c.890A>C (p.Glu297Ala)
c.865A>C
n.887A>C
Xg.111401049C>ACA414245923DCXc.646G>T (p.Glu216Ter)
c.889G>T (p.Glu297Ter)
c.864G>T
n.886G>T
Xg.111401049C>GCA414245924DCXc.646G>C (p.Glu216Gln)
c.889G>C (p.Glu297Gln)
c.864G>C
n.886G>C
Xg.111401049C>TCA414245925DCXc.646G>A (p.Glu216Lys)
c.889G>A (p.Glu297Lys)
c.864G>A
n.886G>A
Xg.111401050T>ACA518113954DCXc.645A>T (p.Thr215=)
c.888A>T (p.Thr296=)
c.863A>T
n.885A>T
Xg.111401050T>CCA518113955DCXc.645A>G (p.Thr215=)
c.888A>G (p.Thr296=)
c.863A>G
n.885A>G
Xg.111401050T>GCA518113956DCXc.645A>C (p.Thr215=)
c.888A>C (p.Thr296=)
c.863A>C
n.885A>C
Xg.111401051G>ACA414245926DCXc.644C>T (p.Thr215Ile)
c.887C>T (p.Thr296Ile)
c.862C>T
n.884C>T
Xg.111401051G>CCA414245927DCXc.644C>G (p.Thr215Arg)
c.887C>G (p.Thr296Arg)
c.862C>G
n.884C>G
Xg.111401051G>TCA414245928DCXc.644C>A (p.Thr215Lys)
c.887C>A (p.Thr296Lys)
c.862C>A
n.884C>A
Xg.111401052T>ACA414245929DCXc.643A>T (p.Thr215Ser)
c.886A>T (p.Thr296Ser)
c.861A>T
n.883A>T
Xg.111401052T>CCA414245930DCXc.643A>G (p.Thr215Ala)
c.886A>G (p.Thr296Ala)
c.861A>G
n.883A>G
COSMIC COSMIC
Xg.111401052T>GCA414245931DCXc.643A>C (p.Thr215Pro)
c.886A>C (p.Thr296Pro)
c.861A>C
n.883A>C
Xg.111401053G>ACA518113957DCXc.642C>T (p.Ile214=)
c.885C>T (p.Ile295=)
c.860C>T
n.882C>T
Xg.111401053G>CCA414245932DCXc.642C>G (p.Ile214Met)
c.885C>G (p.Ile295Met)
c.860C>G
n.882C>G
Xg.111401053G>TCA518113958DCXc.642C>A (p.Ile214=)
c.885C>A (p.Ile295=)
c.860C>A
n.882C>A
Xg.111401054A=CA2451697214DCXc.641T= (p.Ile214=)
c.884T= (p.Ile295=)
c.859T=
n.881T=
Xg.111401054A>CCA414245934DCXc.641T>G (p.Ile214Ser)
c.884T>G (p.Ile295Ser)
c.859T>G
n.881T>G
Xg.111401054A>GCA172041DCXc.641T>C (p.Ile214Thr)
c.884T>C (p.Ile295Thr)
c.859T>C
n.881T>C
ClinVar dbSNP
Xg.111401054A>TCA414245933DCXc.641T>A (p.Ile214Asn)
c.884T>A (p.Ile295Asn)
c.859T>A
n.881T>A
Xg.111401055T>ACA414245935DCXc.640A>T (p.Ile214Phe)
c.883A>T (p.Ile295Phe)
c.858A>T
n.880A>T
Xg.111401055T>CCA414245936DCXc.640A>G (p.Ile214Val)
c.883A>G (p.Ile295Val)
c.858A>G
n.880A>G
Xg.111401055T>GCA414245937DCXc.640A>C (p.Ile214Leu)
c.883A>C (p.Ile295Leu)
c.858A>C
n.880A>C
Xg.111401056A>CCA414245938DCXc.639T>G (p.Asp213Glu)
c.882T>G (p.Asp294Glu)
c.857T>G
n.879T>G
Xg.111401056A>GCA518113959DCXc.639T>C (p.Asp213=)
c.882T>C (p.Asp294=)
c.857T>C
n.879T>C
Xg.111401056A>TCA414245939DCXc.639T>A (p.Asp213Glu)
c.882T>A (p.Asp294Glu)
c.857T>A
n.879T>A
Xg.111401057T>ACA414245942DCXc.638A>T (p.Asp213Val)
c.881A>T (p.Asp294Val)
c.856A>T
n.878A>T
Xg.111401057T>CCA414245941DCXc.638A>G (p.Asp213Gly)
c.881A>G (p.Asp294Gly)
c.856A>G
n.878A>G
Xg.111401057T>GCA414245940DCXc.638A>C (p.Asp213Ala)
c.881A>C (p.Asp294Ala)
c.856A>C
n.878A>C
Xg.111401058C>ACA414245943DCXc.637G>T (p.Asp213Tyr)
c.880G>T (p.Asp294Tyr)
c.855G>T
n.877G>T
Xg.111401058C>GCA414245944DCXc.637G>C (p.Asp213His)
c.880G>C (p.Asp294His)
c.855G>C
n.877G>C
Xg.111401058C>TCA414245945DCXc.637G>A (p.Asp213Asn)
c.880G>A (p.Asp294Asn)
c.855G>A
n.877G>A
Xg.111401059A>CCA518113960DCXc.636T>G (p.Thr212=)
c.879T>G (p.Thr293=)
c.854T>G
n.876T>G
Xg.111401059A>GCA518113961DCXc.636T>C (p.Thr212=)
c.879T>C (p.Thr293=)
c.854T>C
n.876T>C
Xg.111401059A>TCA518113962DCXc.636T>A (p.Thr212=)
c.879T>A (p.Thr293=)
c.854T>A
n.876T>A
Xg.111401060G>ACA414245946DCXc.635C>T (p.Thr212Ile)
c.878C>T (p.Thr293Ile)
c.853C>T
n.875C>T
Xg.111401060G>CCA414245947DCXc.635C>G (p.Thr212Ser)
c.878C>G (p.Thr293Ser)
c.853C>G
n.875C>G
Xg.111401060G>TCA414245948DCXc.635C>A (p.Thr212Asn)
c.878C>A (p.Thr293Asn)
c.853C>A
n.875C>A
Xg.111401061T>ACA414245949DCXc.634A>T (p.Thr212Ser)
c.877A>T (p.Thr293Ser)
c.852A>T
n.874A>T
Xg.111401061T>CCA414245951DCXc.634A>G (p.Thr212Ala)
c.877A>G (p.Thr293Ala)
c.852A>G
n.874A>G
Xg.111401061T>GCA414245950DCXc.634A>C (p.Thr212Pro)
c.877A>C (p.Thr293Pro)
c.852A>C
n.874A>C
Xg.111401062G>ACA518113963DCXc.633C>T (p.Leu211=)
c.876C>T (p.Leu292=)
c.851C>T
n.873C>T
Xg.111401062G>CCA518113965DCXc.633C>G (p.Leu211=)
c.876C>G (p.Leu292=)
c.851C>G
n.873C>G
COSMIC COSMIC
Xg.111401062G>TCA518113964DCXc.633C>A (p.Leu211=)
c.876C>A (p.Leu292=)
c.851C>A
n.873C>A
Xg.111401063A>CCA414245952DCXc.632T>G (p.Leu211Arg)
c.875T>G (p.Leu292Arg)
c.850T>G
n.872T>G
Xg.111401063A>GCA414245953DCXc.632T>C (p.Leu211Pro)
c.875T>C (p.Leu292Pro)
c.850T>C
n.872T>C
Xg.111401063A>TCA414245954DCXc.632T>A (p.Leu211His)
c.875T>A (p.Leu292His)
c.850T>A
n.872T>A
Xg.111401064G>ACA414245955DCXc.631C>T (p.Leu211Phe)
c.874C>T (p.Leu292Phe)
c.849C>T
n.871C>T
Xg.111401064G>CCA414245956DCXc.631C>G (p.Leu211Val)
c.874C>G (p.Leu292Val)
c.849C>G
n.871C>G
Xg.111401064G>TCA414245957DCXc.631C>A (p.Leu211Ile)
c.874C>A (p.Leu292Ile)
c.849C>A
n.871C>A
COSMIC
Xg.111401065G>ACA518113966DCXc.630C>T (p.Val210=)
c.873C>T (p.Val291=)
c.848C>T
n.870C>T
Xg.111401065G>CCA518113967DCXc.630C>G (p.Val210=)
c.873C>G (p.Val291=)
c.848C>G
n.870C>G
Xg.111401065G>TCA518113968DCXc.630C>A (p.Val210=)
c.873C>A (p.Val291=)
c.848C>A
n.870C>A
Xg.111401066A=CA2451697215DCXc.629T= (p.Val210=)
c.872T= (p.Val291=)
c.847T=
n.869T=
Xg.111401066A>CCA414245958DCXc.629T>G (p.Val210Gly)
c.872T>G (p.Val291Gly)
c.847T>G
n.869T>G
Xg.111401066A>GCA10493318DCXc.629T>C (p.Val210Ala)
c.872T>C (p.Val291Ala)
c.847T>C
n.869T>C
dbSNP ExAC
Xg.111401066A>TCA414245959DCXc.629T>A (p.Val210Asp)
c.872T>A (p.Val291Asp)
c.847T>A
n.869T>A
Xg.111401067delCA2573055069DCXc.628del (p.Val210SerfsTer27)
c.871del (p.Val291SerfsTer27)
c.846del
n.868del
ClinVar dbSNP
Xg.111401067C>ACA172038DCXc.628G>T (p.Val210Phe)
c.871G>T (p.Val291Phe)
c.846G>T
n.868G>T
ClinVar dbSNP
Xg.111401067C=CA2451697216DCXc.628G= (p.Val210=)
c.871G= (p.Val291=)
c.846G=
n.868G=
Xg.111401067C>GCA414245960DCXc.628G>C (p.Val210Leu)
c.871G>C (p.Val291Leu)
c.846G>C
n.868G>C
Xg.111401067C>TCA414245961DCXc.628G>A (p.Val210Ile)
c.871G>A (p.Val291Ile)
c.846G>A
n.868G>A
dbSNP gnomAD v4
Xg.111401068T>ACA414245962DCXc.627A>T (p.Gln209His)
c.870A>T (p.Gln290His)
c.845A>T
n.867A>T
Xg.111401068T>CCA518113969DCXc.627A>G (p.Gln209=)
c.870A>G (p.Gln290=)
c.845A>G
n.867A>G
Xg.111401068T>GCA414245963DCXc.627A>C (p.Gln209His)
c.870A>C (p.Gln290His)
c.845A>C
n.867A>C
ClinVar
Xg.111401069T>ACA414245964DCXc.626A>T (p.Gln209Leu)
c.869A>T (p.Gln290Leu)
c.844A>T
n.866A>T
Xg.111401069T>CCA414245966DCXc.626A>G (p.Gln209Arg)
c.869A>G (p.Gln290Arg)
c.844A>G
n.866A>G
Xg.111401069T>GCA414245965DCXc.626A>C (p.Gln209Pro)
c.869A>C (p.Gln290Pro)
c.844A>C
n.866A>C
Xg.111401070G>ACA414245967DCXc.625C>T (p.Gln209Ter)
c.868C>T (p.Gln290Ter)
c.843C>T
n.865C>T
Xg.111401070G>CCA414245969DCXc.625C>G (p.Gln209Glu)
c.868C>G (p.Gln290Glu)
c.843C>G
n.865C>G
Xg.111401070G>TCA414245968DCXc.625C>A (p.Gln209Lys)
c.868C>A (p.Gln290Lys)
c.843C>A
n.865C>A
Xg.111401071C>ACA414245970DCXc.624G>T (p.Glu208Asp)
c.867G>T (p.Glu289Asp)
c.842G>T
n.864G>T
Xg.111401071C>GCA414245971DCXc.624G>C (p.Glu208Asp)
c.867G>C (p.Glu289Asp)
c.842G>C
n.864G>C
Xg.111401071C>TCA518113970DCXc.624G>A (p.Glu208=)
c.867G>A (p.Glu289=)
c.842G>A
n.864G>A
Xg.111401072T>ACA414245972DCXc.623A>T (p.Glu208Val)
c.866A>T (p.Glu289Val)
c.841A>T
n.863A>T
Xg.111401072T>CCA414245973DCXc.623A>G (p.Glu208Gly)
c.866A>G (p.Glu289Gly)
c.841A>G
n.863A>G
Xg.111401072T>GCA414245974DCXc.623A>C (p.Glu208Ala)
c.866A>C (p.Glu289Ala)
c.841A>C
n.863A>C
Xg.111401073C>ACA414245975DCXc.622G>T (p.Glu208Ter)
c.865G>T (p.Glu289Ter)
c.840G>T
n.862G>T
Xg.111401073C>GCA414245976DCXc.622G>C (p.Glu208Gln)
c.865G>C (p.Glu289Gln)
c.840G>C
n.862G>C
COSMIC COSMIC
Xg.111401073C>TCA414245977DCXc.622G>A (p.Glu208Lys)
c.865G>A (p.Glu289Lys)
c.840G>A
n.862G>A
Xg.111401074A>CCA414245978DCXc.621T>G (p.Phe207Leu)
c.864T>G (p.Phe288Leu)
c.839T>G
n.861T>G
Xg.111401074A>GCA518113971DCXc.621T>C (p.Phe207=)
c.864T>C (p.Phe288=)
c.839T>C
n.861T>C
Xg.111401074A>TCA414245979DCXc.621T>A (p.Phe207Leu)
c.864T>A (p.Phe288Leu)
c.839T>A
n.861T>A
Xg.111401075A>CCA414245982DCXc.620T>G (p.Phe207Cys)
c.863T>G (p.Phe288Cys)
c.838T>G
n.860T>G
Xg.111401075A>GCA414245981DCXc.620T>C (p.Phe207Ser)
c.863T>C (p.Phe288Ser)
c.838T>C
n.860T>C
Xg.111401075A>TCA414245980DCXc.620T>A (p.Phe207Tyr)
c.863T>A (p.Phe288Tyr)
c.838T>A
n.860T>A
Xg.111401076A>CCA414245983DCXc.619T>G (p.Phe207Val)
c.862T>G (p.Phe288Val)
c.837T>G
n.859T>G
Xg.111401076A>GCA414245984DCXc.619T>C (p.Phe207Leu)
c.862T>C (p.Phe288Leu)
c.837T>C
n.859T>C
Xg.111401076A>TCA414245985DCXc.619T>A (p.Phe207Ile)
c.862T>A (p.Phe288Ile)
c.837T>A
n.859T>A
Xg.111401077A>CCA518113972DCXc.618T>G (p.Ser206=)
c.861T>G (p.Ser287=)
c.836T>G
n.858T>G
Xg.111401077A>GCA518113973DCXc.618T>C (p.Ser206=)
c.861T>C (p.Ser287=)
c.836T>C
n.858T>C
Xg.111401077A>TCA518113974DCXc.618T>A (p.Ser206=)
c.861T>A (p.Ser287=)
c.836T>A
n.858T>A
Xg.111401078G>ACA414245986DCXc.617C>T (p.Ser206Phe)
c.860C>T (p.Ser287Phe)
c.835C>T
n.857C>T
Xg.111401078G>CCA414245987DCXc.617C>G (p.Ser206Cys)
c.860C>G (p.Ser287Cys)
c.835C>G
n.857C>G
Xg.111401078G>TCA414245988DCXc.617C>A (p.Ser206Tyr)
c.860C>A (p.Ser287Tyr)
c.835C>A
n.857C>A
Xg.111401079A>CCA414245989DCXc.616T>G (p.Ser206Ala)
c.859T>G (p.Ser287Ala)
c.834T>G
n.856T>G
Xg.111401079A>GCA414245990DCXc.616T>C (p.Ser206Pro)
c.859T>C (p.Ser287Pro)
c.834T>C
n.856T>C
Xg.111401079A>TCA414245991DCXc.616T>A (p.Ser206Thr)
c.859T>A (p.Ser287Thr)
c.834T>A
n.856T>A
Xg.111401080G>ACA518113975DCXc.615C>T (p.His205=)
c.858C>T (p.His286=)
c.833C>T
n.855C>T
Xg.111401080G>CCA414245992DCXc.615C>G (p.His205Gln)
c.858C>G (p.His286Gln)
c.833C>G
n.855C>G
Xg.111401080G>TCA414245993DCXc.615C>A (p.His205Gln)
c.858C>A (p.His286Gln)
c.833C>A
n.855C>A
Xg.111401081T>ACA172035DCXc.614A>T (p.His205Leu)
c.857A>T (p.His286Leu)
c.832A>T
n.854A>T
ClinVar dbSNP
Xg.111401081T>CCA414245995DCXc.614A>G (p.His205Arg)
c.857A>G (p.His286Arg)
c.832A>G
n.854A>G
Xg.111401081T>GCA414245994DCXc.614A>C (p.His205Pro)
c.857A>C (p.His286Pro)
c.832A>C
n.854A>C
Xg.111401081T=CA2451697217DCXc.614A= (p.His205=)
c.857A= (p.His286=)
c.832A=
n.854A=
Xg.111401082G>ACA414245996DCXc.613C>T (p.His205Tyr)
c.856C>T (p.His286Tyr)
c.831C>T
n.853C>T
Xg.111401082G>CCA414245997DCXc.613C>G (p.His205Asp)
c.856C>G (p.His286Asp)
c.831C>G
n.853C>G
ClinVar
Xg.111401082G>TCA414245998DCXc.613C>A (p.His205Asn)
c.856C>A (p.His286Asn)
c.831C>A
n.853C>A
COSMIC
Xg.111401083G>ACA518113976DCXc.612C>T (p.Ala204=)
c.855C>T (p.Ala285=)
c.830C>T
n.852C>T
Xg.111401083G>CCA518113977DCXc.612C>G (p.Ala204=)
c.855C>G (p.Ala285=)
c.830C>G
n.852C>G
Xg.111401083G>TCA518113978DCXc.612C>A (p.Ala204=)
c.855C>A (p.Ala285=)
c.830C>A
n.852C>A
Xg.111401084G>ACA414245999DCXc.611C>T (p.Ala204Val)
c.854C>T (p.Ala285Val)
c.829C>T
n.851C>T
gnomAD v4
Xg.111401084G>CCA414246000DCXc.611C>G (p.Ala204Gly)
c.854C>G (p.Ala285Gly)
c.829C>G
n.851C>G
Xg.111401084G=CA2451697218DCXc.611C= (p.Ala204=)
c.854C= (p.Ala285=)
c.829C=
n.851C=
Xg.111401084G>TCA172032DCXc.611C>A (p.Ala204Asp)
c.854C>A (p.Ala285Asp)
c.829C>A
n.851C>A
ClinVar dbSNP
Xg.111401085C>ACA414246001DCXc.610G>T (p.Ala204Ser)
c.853G>T (p.Ala285Ser)
c.828G>T
n.850G>T
Xg.111401085C>GCA414246002DCXc.610G>C (p.Ala204Pro)
c.853G>C (p.Ala285Pro)
c.828G>C
n.850G>C
Xg.111401085C>TCA414246003DCXc.610G>A (p.Ala204Thr)
c.853G>A (p.Ala285Thr)
c.828G>A
n.850G>A
gnomAD v4
Xg.111401086T>ACA518113979DCXc.609A>T (p.Thr203=)
c.852A>T (p.Thr284=)
c.827A>T
n.849A>T
Xg.111401086T>CCA518113980DCXc.609A>G (p.Thr203=)
c.852A>G (p.Thr284=)
c.827A>G
n.849A>G
Xg.111401086T>GCA518113981DCXc.609A>C (p.Thr203=)
c.852A>C (p.Thr284=)
c.827A>C
n.849A>C
Xg.111401087G>ACA414246004DCXc.608C>T (p.Thr203Ile)
c.851C>T (p.Thr284Ile)
c.826C>T
n.848C>T
Xg.111401087G>CCA121598DCXc.608C>G (p.Thr203Arg)
c.851C>G (p.Thr284Arg)
c.826C>G
n.848C>G
ClinVar dbSNP
Xg.111401087G=CA2451697219DCXc.608C= (p.Thr203=)
c.851C= (p.Thr284=)
c.826C=
n.848C=
Xg.111401087G>TCA172029DCXc.608C>A (p.Thr203Lys)
c.851C>A (p.Thr284Lys)
c.826C>A
n.848C>A
ClinVar dbSNP
Xg.111401088T>ACA414246006DCXc.607A>T (p.Thr203Ser)
c.850A>T (p.Thr284Ser)
c.825A>T
n.847A>T
Xg.111401088T>CCA172026DCXc.607A>G (p.Thr203Ala)
c.850A>G (p.Thr284Ala)
c.825A>G
n.847A>G
ClinVar dbSNP
Xg.111401088T>GCA414246005DCXc.607A>C (p.Thr203Pro)
c.850A>C (p.Thr284Pro)
c.825A>C
n.847A>C
Xg.111401088T=CA2451697220DCXc.607A= (p.Thr203=)
c.850A= (p.Thr284=)
c.825A=
n.847A=
Xg.111401092_111401094delCA2580612460DCXc.605_607del (p.Lys202del)
c.848_850del (p.Lys283del)
c.823_825del
n.845_847del
ClinVar
Xg.111401089C>ACA414246007DCXc.606G>T (p.Lys202Asn)
c.849G>T (p.Lys283Asn)
c.824G>T
n.846G>T
Xg.111401089C=CA2451697221DCXc.606G= (p.Lys202=)
c.849G= (p.Lys283=)
c.824G=
n.846G=
Xg.111401089C>GCA414246008DCXc.606G>C (p.Lys202Asn)
c.849G>C (p.Lys283Asn)
c.824G>C
n.846G>C
Xg.111401089C>TCA334420246DCXc.606G>A (p.Lys202=)
c.849G>A (p.Lys283=)
c.824G>A
n.846G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.111401090T>ACA414246009DCXc.605A>T (p.Lys202Met)
c.848A>T (p.Lys283Met)
c.823A>T
n.845A>T
Xg.111401090T>CCA414246010DCXc.605A>G (p.Lys202Arg)
c.848A>G (p.Lys283Arg)
c.823A>G
n.845A>G
Xg.111401090T>GCA414246011DCXc.605A>C (p.Lys202Thr)
c.848A>C (p.Lys283Thr)
c.823A>C
n.845A>C
Xg.111401091T>ACA414246014DCXc.604A>T (p.Lys202Ter)
c.847A>T (p.Lys283Ter)
c.822A>T
n.844A>T
Xg.111401091T>CCA414246012DCXc.604A>G (p.Lys202Glu)
c.847A>G (p.Lys283Glu)
c.822A>G
n.844A>G
ClinVar
Xg.111401091T>GCA414246013DCXc.604A>C (p.Lys202Gln)
c.847A>C (p.Lys283Gln)
c.822A>C
n.844A>C
Xg.111401092C>ACA414246015DCXc.603G>T (p.Lys201Asn)
c.846G>T (p.Lys282Asn)
c.821G>T
n.843G>T
Xg.111401092C>GCA414246016DCXc.603G>C (p.Lys201Asn)
c.846G>C (p.Lys282Asn)
c.821G>C
n.843G>C
Xg.111401092C>TCA518113982DCXc.603G>A (p.Lys201=)
c.846G>A (p.Lys282=)
c.821G>A
n.843G>A
gnomAD v4 COSMIC COSMIC
Xg.111401093T>ACA414246017DCXc.602A>T (p.Lys201Met)
c.845A>T (p.Lys282Met)
c.820A>T
n.842A>T
Xg.111401093T>CCA414246018DCXc.602A>G (p.Lys201Arg)
c.845A>G (p.Lys282Arg)
c.820A>G
n.842A>G
Xg.111401093T>GCA414246019DCXc.602A>C (p.Lys201Thr)
c.845A>C (p.Lys282Thr)
c.820A>C
n.842A>C
Xg.111401094T>ACA414246022DCXc.601A>T (p.Lys201Ter)
c.844A>T (p.Lys282Ter)
c.819A>T
n.841A>T
ClinVar dbSNP
Xg.111401094T>CCA414246021DCXc.601A>G (p.Lys201Glu)
c.844A>G (p.Lys282Glu)
c.819A>G
n.841A>G
Xg.111401094T>GCA414246020DCXc.601A>C (p.Lys201Gln)
c.844A>C (p.Lys282Gln)
c.819A>C
n.841A>C
Xg.111401094T=CA2451697222DCXc.601A= (p.Lys201=)
c.844A= (p.Lys282=)
c.819A=
n.841A=
Xg.111401095G>ACA518113983DCXc.600C>T (p.Asn200=)
c.843C>T (p.Asn281=)
c.818C>T
n.840C>T
Xg.111401095G>CCA414246023DCXc.600C>G (p.Asn200Lys)
c.843C>G (p.Asn281Lys)
c.818C>G
n.840C>G
Xg.111401095G>TCA414246024DCXc.600C>A (p.Asn200Lys)
c.843C>A (p.Asn281Lys)
c.818C>A
n.840C>A
Xg.111401096T>ACA414246025DCXc.599A>T (p.Asn200Ile)
c.842A>T (p.Asn281Ile)
c.817A>T
n.839A>T
Xg.111401096T>CCA414246026DCXc.599A>G (p.Asn200Ser)
c.842A>G (p.Asn281Ser)
c.817A>G
n.839A>G
Xg.111401096T>GCA414246027DCXc.599A>C (p.Asn200Thr)
c.842A>C (p.Asn281Thr)
c.817A>C
n.839A>C
Xg.111401097T>ACA414246028DCXc.598A>T (p.Asn200Tyr)
c.841A>T (p.Asn281Tyr)
c.816A>T
n.838A>T
ClinVar
Xg.111401097T>CCA414246029DCXc.598A>G (p.Asn200Asp)
c.841A>G (p.Asn281Asp)
c.816A>G
n.838A>G
Xg.111401097T>GCA414246030DCXc.598A>C (p.Asn200His)
c.841A>C (p.Asn281His)
c.816A>C
n.838A>C
Xg.111401098C>ACA518113984DCXc.597G>T (p.Leu199=)
c.840G>T (p.Leu280=)
c.815G>T
n.837G>T
Xg.111401098C>GCA518113985DCXc.597G>C (p.Leu199=)
c.840G>C (p.Leu280=)
c.815G>C
n.837G>C
Xg.111401098C>TCA518113986DCXc.597G>A (p.Leu199=)
c.840G>A (p.Leu280=)
c.815G>A
n.837G>A
Xg.111401099A=CA2451697223DCXc.596T= (p.Leu199=)
c.839T= (p.Leu280=)
c.814T=
n.836T=
Xg.111401099A>CCA414246032DCXc.596T>G (p.Leu199Arg)
c.839T>G (p.Leu280Arg)
c.814T>G
n.836T>G
ClinVar
Xg.111401099A>GCA172023DCXc.596T>C (p.Leu199Pro)
c.839T>C (p.Leu280Pro)
c.814T>C
n.836T>C
ClinVar dbSNP
Xg.111401099A>TCA414246031DCXc.596T>A (p.Leu199Gln)
c.839T>A (p.Leu280Gln)
c.814T>A
n.836T>A
Xg.111401100G>ACA518113987DCXc.595C>T (p.Leu199=)
c.838C>T (p.Leu280=)
c.813C>T
n.835C>T
Xg.111401100G>CCA414246033DCXc.595C>G (p.Leu199Val)
c.838C>G (p.Leu280Val)
c.813C>G
n.835C>G
Xg.111401100G>TCA414246034DCXc.595C>A (p.Leu199Met)
c.838C>A (p.Leu280Met)
c.813C>A
n.835C>A
Xg.111401101A>CCA518113988DCXc.594T>G (p.Leu198=)
c.837T>G (p.Leu279=)
c.812T>G
n.834T>G
Xg.111401101A>GCA518113989DCXc.594T>C (p.Leu198=)
c.837T>C (p.Leu279=)
c.812T>C
n.834T>C
Xg.111401101A>TCA518113990DCXc.594T>A (p.Leu198=)
c.837T>A (p.Leu279=)
c.812T>A
n.834T>A
Xg.111401102A>CCA414246035DCXc.593T>G (p.Leu198Arg)
c.836T>G (p.Leu279Arg)
c.811T>G
n.833T>G
Xg.111401102A>GCA414246036DCXc.593T>C (p.Leu198Pro)
c.836T>C (p.Leu279Pro)
c.811T>C
n.833T>C
Xg.111401102A>TCA414246037DCXc.593T>A (p.Leu198His)
c.836T>A (p.Leu279His)
c.811T>A
n.833T>A
Xg.111401103G>ACA414246038DCXc.592C>T (p.Leu198Phe)
c.835C>T (p.Leu279Phe)
c.810C>T
n.832C>T
Xg.111401103G>CCA414246040DCXc.592C>G (p.Leu198Val)
c.835C>G (p.Leu279Val)
c.810C>G
n.832C>G
Xg.111401103G>TCA414246039DCXc.592C>A (p.Leu198Ile)
c.835C>A (p.Leu279Ile)
c.810C>A
n.832C>A
Xg.111401104C>ACA518113991DCXc.591G>T (p.Val197=)
c.834G>T (p.Val278=)
c.809G>T
n.831G>T
Xg.111401104C>GCA518113992DCXc.591G>C (p.Val197=)
c.834G>C (p.Val278=)
c.809G>C
n.831G>C
Xg.111401104C>TCA518113993DCXc.591G>A (p.Val197=)
c.834G>A (p.Val278=)
c.809G>A
n.831G>A
gnomAD v4
Xg.111401105A>CCA414246041DCXc.590T>G (p.Val197Gly)
c.833T>G (p.Val278Gly)
c.808T>G
n.830T>G
Xg.111401105A>GCA414246042DCXc.590T>C (p.Val197Ala)
c.833T>C (p.Val278Ala)
c.808T>C
n.830T>C
Xg.111401105A>TCA414246043DCXc.590T>A (p.Val197Glu)
c.833T>A (p.Val278Glu)
c.808T>A
n.830T>A
Xg.111401106C>ACA414246044DCXc.589G>T (p.Val197Leu)
c.832G>T (p.Val278Leu)
c.807G>T
n.829G>T
Xg.111401106C>GCA414246045DCXc.589G>C (p.Val197Leu)
c.832G>C (p.Val278Leu)
c.807G>C
n.829G>C
Xg.111401106C>TCA414246046DCXc.589G>A (p.Val197Met)
c.832G>A (p.Val278Met)
c.807G>A
n.829G>A
Xg.111401107A=CA2451697224DCXc.588T= (p.Arg196=)
c.831T= (p.Arg277=)
c.806T=
n.828T=
Xg.111401107A>CCA518113994DCXc.588T>G (p.Arg196=)
c.831T>G (p.Arg277=)
c.806T>G
n.828T>G
Xg.111401107A>GCA172020DCXc.588T>C (p.Arg196=)
c.831T>C (p.Arg277=)
c.806T>C
n.828T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.111401107A>TCA518113995DCXc.588T>A (p.Arg196=)
c.831T>A (p.Arg277=)
c.806T>A
n.828T>A
Xg.111401108C>ACA414246047DCXc.587G>T (p.Arg196Leu)
c.830G>T (p.Arg277Leu)
c.805G>T
n.827G>T
ClinVar dbSNP
Xg.111401108C=CA2451697225DCXc.587G= (p.Arg196=)
c.830G= (p.Arg277=)
c.805G=
n.827G=
Xg.111401108C>GCA414246048DCXc.587G>C (p.Arg196Pro)
c.830G>C (p.Arg277Pro)
c.805G>C
n.827G>C
Xg.111401108C>TCA121606DCXc.587G>A (p.Arg196His)
c.830G>A (p.Arg277His)
c.805G>A
n.827G>A
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.111401109G>ACA172017DCXc.586C>T (p.Arg196Cys)
c.829C>T (p.Arg277Cys)
c.804C>T
n.826C>T
ClinVar dbSNP gnomAD v4
Xg.111401109G>CCA172014DCXc.586C>G (p.Arg196Gly)
c.829C>G (p.Arg277Gly)
c.804C>G
n.826C>G
ClinVar dbSNP
Xg.111401109G=CA2451697227DCXc.586C= (p.Arg196=)
c.829C= (p.Arg277=)
c.804C=
n.826C=
Xg.111401109G>TCA172011DCXc.586C>A (p.Arg196Ser)
c.829C>A (p.Arg277Ser)
c.804C>A
n.826C>A
ClinVar dbSNP
Xg.111401109_111401117delinsGCACAGCCTCA2451697226DCXc.578_586delinsAGGCTGTGC (p.Lys193=)
c.821_829delinsAGGCTGTGC (p.Lys274=)
c.796_804delinsAGGCTGTGC
n.818_826delinsAGGCTGTGC
Xg.111401110C>ACA518113998DCXc.585G>T (p.Val195=)
c.828G>T (p.Val276=)
c.803G>T
n.825G>T
Xg.111401110C>GCA518113997DCXc.585G>C (p.Val195=)
c.828G>C (p.Val276=)
c.803G>C
n.825G>C
Xg.111401110C>TCA518113996DCXc.585G>A (p.Val195=)
c.828G>A (p.Val276=)
c.803G>A
n.825G>A
Xg.111401110_111401117delCA172010DCXc.578_585del (p.Lys193ThrfsTer13)
c.821_828del (p.Lys274ThrfsTer13)
c.796_803del
n.818_825del
ClinVar dbSNP
Xg.111401111A>CCA414246049DCXc.584T>G (p.Val195Gly)
c.827T>G (p.Val276Gly)
c.802T>G
n.824T>G
Xg.111401111A>GCA414246050DCXc.584T>C (p.Val195Ala)
c.827T>C (p.Val276Ala)
c.802T>C
n.824T>C
Xg.111401111A>TCA414246051DCXc.584T>A (p.Val195Glu)
c.827T>A (p.Val276Glu)
c.802T>A
n.824T>A
Xg.111401112C>ACA414246052DCXc.583G>T (p.Val195Leu)
c.826G>T (p.Val276Leu)
c.801G>T
n.823G>T
Xg.111401112C>GCA414246053DCXc.583G>C (p.Val195Leu)
c.826G>C (p.Val276Leu)
c.801G>C
n.823G>C
Xg.111401112C>TCA414246054DCXc.583G>A (p.Val195Met)
c.826G>A (p.Val276Met)
c.801G>A
n.823G>A
Xg.111401113A>CCA518113999DCXc.582T>G (p.Ala194=)
c.825T>G (p.Ala275=)
c.800T>G
n.822T>G
Xg.111401113A>GCA518114000DCXc.582T>C (p.Ala194=)
c.825T>C (p.Ala275=)
c.800T>C
n.822T>C
Xg.111401113A>TCA518114001DCXc.582T>A (p.Ala194=)
c.825T>A (p.Ala275=)
c.800T>A
n.822T>A
Xg.111401114G>ACA414246055DCXc.581C>T (p.Ala194Val)
c.824C>T (p.Ala275Val)
c.799C>T
n.821C>T
Xg.111401114G>CCA414246056DCXc.581C>G (p.Ala194Gly)
c.824C>G (p.Ala275Gly)
c.799C>G
n.821C>G
Xg.111401114G>TCA414246057DCXc.581C>A (p.Ala194Asp)
c.824C>A (p.Ala275Asp)
c.799C>A
n.821C>A
Xg.111401115C>ACA414246058DCXc.580G>T (p.Ala194Ser)
c.823G>T (p.Ala275Ser)
c.798G>T
n.820G>T
Xg.111401115C>GCA414246059DCXc.580G>C (p.Ala194Pro)
c.823G>C (p.Ala275Pro)
c.798G>C
n.820G>C
Xg.111401115C>TCA414246060DCXc.580G>A (p.Ala194Thr)
c.823G>A (p.Ala275Thr)
c.798G>A
n.820G>A
Xg.111401116C>ACA414246062DCXc.579G>T (p.Lys193Asn)
c.822G>T (p.Lys274Asn)
c.797G>T
n.819G>T
Xg.111401116C>GCA414246061DCXc.579G>C (p.Lys193Asn)
c.822G>C (p.Lys274Asn)
c.797G>C
n.819G>C
Xg.111401116C>TCA518114002DCXc.579G>A (p.Lys193=)
c.822G>A (p.Lys274=)
c.797G>A
n.819G>A
COSMIC COSMIC
Xg.111401116_111401117delinsCTCA2451697228DCXc.578_579delinsAG (p.Lys193=)
c.821_822delinsAG (p.Lys274=)
c.796_797delinsAG
n.818_819delinsAG
Xg.111401117T>ACA414246063DCXc.578A>T (p.Lys193Met)
c.821A>T (p.Lys274Met)
c.796A>T
n.818A>T
Xg.111401117T>CCA414246064DCXc.578A>G (p.Lys193Arg)
c.821A>G (p.Lys274Arg)
c.796A>G
n.818A>G
Xg.111401117T>GCA414246065DCXc.578A>C (p.Lys193Thr)
c.821A>C (p.Lys274Thr)
c.796A>C
n.818A>C
Xg.111401118delCA207795DCXc.578del (p.Lys193ArgfsTer7)
c.821del (p.Lys274ArgfsTer7)
c.796del
n.818del
ClinVar dbSNP
Xg.111401118T>ACA414246066DCXc.577A>T (p.Lys193Ter)
c.820A>T (p.Lys274Ter)
c.795A>T
n.817A>T
Xg.111401118T>CCA414246067DCXc.577A>G (p.Lys193Glu)
c.820A>G (p.Lys274Glu)
c.795A>G
n.817A>G
Xg.111401118T>GCA414246068DCXc.577A>C (p.Lys193Gln)
c.820A>C (p.Lys274Gln)
c.795A>C
n.817A>C
Xg.111401119C>ACA518114003DCXc.576G>T (p.Arg192=)
c.819G>T (p.Arg273=)
c.794G>T
n.816G>T
Xg.111401119C>GCA518114004DCXc.576G>C (p.Arg192=)
c.819G>C (p.Arg273=)
c.794G>C
n.816G>C
Xg.111401119C>TCA518114005DCXc.576G>A (p.Arg192=)
c.819G>A (p.Arg273=)
c.794G>A
n.816G>A
Xg.111401120C>ACA414246069DCXc.575G>T (p.Arg192Leu)
c.818G>T (p.Arg273Leu)
c.793G>T
n.815G>T
Xg.111401120C>GCA414246070DCXc.575G>C (p.Arg192Pro)
c.818G>C (p.Arg273Pro)
c.793G>C
n.815G>C
Xg.111401120C>TCA414246071DCXc.575G>A (p.Arg192Gln)
c.818G>A (p.Arg273Gln)
c.793G>A
n.815G>A
COSMIC COSMIC
Xg.111401121G>ACA121591DCXc.574C>T (p.Arg192Trp)
c.817C>T (p.Arg273Trp)
c.792C>T
n.814C>T
ClinVar dbSNP
Xg.111401121G>CCA414246072DCXc.574C>G (p.Arg192Gly)
c.817C>G (p.Arg273Gly)
c.792C>G
n.814C>G
Xg.111401121G=CA2451697229DCXc.574C= (p.Arg192=)
c.817C= (p.Arg273=)
c.792C=
n.814C=
Xg.111401121G>TCA518114006DCXc.574C>A (p.Arg192=)
c.817C>A (p.Arg273=)
c.792C>A
n.814C>A
dbSNP
Xg.111401122A>CCA518114007DCXc.573T>G (p.Pro191=)
c.816T>G (p.Pro272=)
c.791T>G
n.813T>G
Xg.111401122A>GCA518114008DCXc.573T>C (p.Pro191=)
c.816T>C (p.Pro272=)
c.791T>C
n.813T>C
Xg.111401122A>TCA518114009DCXc.573T>A (p.Pro191=)
c.816T>A (p.Pro272=)
c.791T>A
n.813T>A
Xg.111401123G>ACA414246074DCXc.572C>T (p.Pro191Leu)
c.815C>T (p.Pro272Leu)
c.790C>T
n.812C>T
Xg.111401123G>CCA172007DCXc.572C>G (p.Pro191Arg)
c.815C>G (p.Pro272Arg)
c.790C>G
n.812C>G
ClinVar dbSNP
Xg.111401123G=CA2451697230DCXc.572C= (p.Pro191=)
c.815C= (p.Pro272=)
c.790C=
n.812C=
Xg.111401123G>TCA414246073DCXc.572C>A (p.Pro191His)
c.815C>A (p.Pro272His)
c.790C>A
n.812C>A
Xg.111401124G>ACA414246075DCXc.571C>T (p.Pro191Ser)
c.814C>T (p.Pro272Ser)
c.789C>T
n.811C>T
Xg.111401124G>CCA414246076DCXc.571C>G (p.Pro191Ala)
c.814C>G (p.Pro272Ala)
c.789C>G
n.811C>G
dbSNP gnomAD v2 gnomAD v4
Xg.111401124G=CA2451697231DCXc.571C= (p.Pro191=)
c.814C= (p.Pro272=)
c.789C=
n.811C=
Xg.111401124G>TCA172004DCXc.571C>A (p.Pro191Thr)
c.814C>A (p.Pro272Thr)
c.789C>A
n.811C>A
ClinVar dbSNP
Xg.111401125C>ACA414246077DCXc.570G>T (p.Lys190Asn)
c.813G>T (p.Lys271Asn)
c.788G>T
n.810G>T
Xg.111401125C=CA2451697232DCXc.570G= (p.Lys190=)
c.813G= (p.Lys271=)
c.788G=
n.810G=
Xg.111401125C>GCA414246078DCXc.570G>C (p.Lys190Asn)
c.813G>C (p.Lys271Asn)
c.788G>C
n.810G>C
Xg.111401125C>TCA518114010DCXc.570G>A (p.Lys190=)
c.813G>A (p.Lys271=)
c.788G>A
n.810G>A
dbSNP gnomAD v3 gnomAD v4
Xg.111401126T>ACA414246079DCXc.569A>T (p.Lys190Met)
c.812A>T (p.Lys271Met)
c.787A>T
n.809A>T
Xg.111401126T>CCA414246081DCXc.569A>G (p.Lys190Arg)
c.812A>G (p.Lys271Arg)
c.787A>G
n.809A>G
Xg.111401126T>GCA414246080DCXc.569A>C (p.Lys190Thr)
c.812A>C (p.Lys271Thr)
c.787A>C
n.809A>C
Xg.111401127T>ACA414246082DCXc.568A>T (p.Lys190Ter)
c.811A>T (p.Lys271Ter)
c.786A>T
n.808A>T
Xg.111401127T>CCA224222DCXc.568A>G (p.Lys190Glu)
c.811A>G (p.Lys271Glu)
c.786A>G
n.808A>G
ClinVar dbSNP
Xg.111401127T>GCA414246083DCXc.568A>C (p.Lys190Gln)
c.811A>C (p.Lys271Gln)
c.786A>C
n.808A>C
Xg.111401127T=CA2451697233DCXc.568A= (p.Lys190=)
c.811A= (p.Lys271=)
c.786A=
n.808A=
Xg.111401127_111401131delinsGATGATGGTAACA2695235800DCXc.564_568delinsTTACCATCATC (p.Val189_Lys190delinsTyrHisHisGln)
c.807_811delinsTTACCATCATC (p.Val270_Lys271delinsTyrHisHisGln)
c.782_786delinsTTACCATCATC
n.804_808delinsTTACCATCATC
Xg.111401128C>ACA518114011DCXc.567G>T (p.Val189=)
c.810G>T (p.Val270=)
c.785G>T
n.807G>T
Xg.111401128C=CA2451697234DCXc.567G= (p.Val189=)
c.810G= (p.Val270=)
c.785G=
n.807G=
Xg.111401128C>GCA518114012DCXc.567G>C (p.Val189=)
c.810G>C (p.Val270=)
c.785G>C
n.807G>C
Xg.111401128C>TCA10493319DCXc.567G>A (p.Val189=)
c.810G>A (p.Val270=)
c.785G>A
n.807G>A
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.111401129A>CCA414246084DCXc.566T>G (p.Val189Gly)
c.809T>G (p.Val270Gly)
c.784T>G
n.806T>G
Xg.111401129A>GCA414246085DCXc.566T>C (p.Val189Ala)
c.809T>C (p.Val270Ala)
c.784T>C
n.806T>C
Xg.111401129A>TCA414246086DCXc.566T>A (p.Val189Glu)
c.809T>A (p.Val270Glu)
c.784T>A
n.806T>A
Xg.111401130C>ACA414246087DCXc.565G>T (p.Val189Leu)
c.808G>T (p.Val270Leu)
c.783G>T
n.805G>T
Xg.111401130C>GCA414246088DCXc.565G>C (p.Val189Leu)
c.808G>C (p.Val270Leu)
c.783G>C
n.805G>C
Xg.111401130C>TCA414246089DCXc.565G>A (p.Val189Met)
c.808G>A (p.Val270Met)
c.783G>A
n.805G>A
gnomAD v4
Xg.111401131C>ACA518114013DCXc.564G>T (p.Gly188=)
c.807G>T (p.Gly269=)
c.782G>T
n.804G>T
Xg.111401131C>GCA518114014DCXc.564G>C (p.Gly188=)
c.807G>C (p.Gly269=)
c.782G>C
n.804G>C
Xg.111401131C>TCA518114015DCXc.564G>A (p.Gly188=)
c.807G>A (p.Gly269=)
c.782G>A
n.804G>A
Xg.111401132C>ACA414246090DCXc.563G>T (p.Gly188Val)
c.806G>T (p.Gly269Val)
c.781G>T
n.803G>T
Xg.111401132C>GCA414246091DCXc.563G>C (p.Gly188Ala)
c.806G>C (p.Gly269Ala)
c.781G>C
n.803G>C
Xg.111401132C>TCA414246092DCXc.563G>A (p.Gly188Glu)
c.806G>A (p.Gly269Glu)
c.781G>A
n.803G>A
Xg.111401133C>ACA414246095DCXc.562G>T (p.Gly188Trp)
c.805G>T (p.Gly269Trp)
c.780G>T
n.802G>T
Xg.111401133C>GCA414246094DCXc.562G>C (p.Gly188Arg)
c.805G>C (p.Gly269Arg)
c.780G>C
n.802G>C
Xg.111401133C>TCA414246093DCXc.562G>A (p.Gly188Arg)
c.805G>A (p.Gly269Arg)
c.780G>A
n.802G>A
ClinVar dbSNP
Xg.111401134A>CCA414246096DCXc.561T>G (p.Ser187Arg)
c.804T>G (p.Ser268Arg)
c.779T>G
n.801T>G
Xg.111401134A>GCA518114016DCXc.561T>C (p.Ser187=)
c.804T>C (p.Ser268=)
c.779T>C
n.801T>C
Xg.111401134A>TCA414246097DCXc.561T>A (p.Ser187Arg)
c.804T>A (p.Ser268Arg)
c.779T>A
n.801T>A
Xg.111401135C>ACA414246098DCXc.560G>T (p.Ser187Ile)
c.803G>T (p.Ser268Ile)
c.778G>T
n.800G>T
Xg.111401135C>GCA414246099DCXc.560G>C (p.Ser187Thr)
c.803G>C (p.Ser268Thr)
c.778G>C
n.800G>C
Xg.111401135C>TCA414246100DCXc.560G>A (p.Ser187Asn)
c.803G>A (p.Ser268Asn)
c.778G>A
n.800G>A
Xg.111401136T>ACA414246101DCXc.559A>T (p.Ser187Cys)
c.802A>T (p.Ser268Cys)
c.777A>T
n.799A>T
Xg.111401136T>CCA414246102DCXc.559A>G (p.Ser187Gly)
c.802A>G (p.Ser268Gly)
c.777A>G
n.799A>G
Xg.111401136T>GCA414246103DCXc.559A>C (p.Ser187Arg)
c.802A>C (p.Ser268Arg)
c.777A>C
n.799A>C
gnomAD v4
Xg.111401137G>ACA518114017DCXc.558C>T (p.Arg186=)
c.801C>T (p.Arg267=)
c.776C>T
n.798C>T
Xg.111401137G>CCA518114018DCXc.558C>G (p.Arg186=)
c.801C>G (p.Arg267=)
c.776C>G
n.798C>G
Xg.111401137G>TCA518114019DCXc.558C>A (p.Arg186=)
c.801C>A (p.Arg267=)
c.776C>A
n.798C>A
Xg.111401138C>ACA171998DCXc.557G>T (p.Arg186Leu)
c.800G>T (p.Arg267Leu)
c.775G>T
n.797G>T
ClinVar dbSNP COSMIC COSMIC
Xg.111401138C=CA2451697235DCXc.557G= (p.Arg186=)
c.800G= (p.Arg267=)
c.775G=
n.797G=
Xg.111401138C>GCA414246104DCXc.557G>C (p.Arg186Pro)
c.800G>C (p.Arg267Pro)
c.775G>C
n.797G>C
Xg.111401138C>TCA171995DCXc.557G>A (p.Arg186His)
c.800G>A (p.Arg267His)
c.775G>A
n.797G>A
ClinVar dbSNP ExAC
Xg.111401139G>ACA171992DCXc.556C>T (p.Arg186Cys)
c.799C>T (p.Arg267Cys)
c.774C>T
n.796C>T
ClinVar dbSNP COSMIC COSMIC
Xg.111401139G>CCA414246106DCXc.556C>G (p.Arg186Gly)
c.799C>G (p.Arg267Gly)
c.774C>G
n.796C>G
Xg.111401139G=CA2451697236DCXc.556C= (p.Arg186=)
c.799C= (p.Arg267=)
c.774C=
n.796C=
Xg.111401139G>TCA414246105DCXc.556C>A (p.Arg186Ser)
c.799C>A (p.Arg267Ser)
c.774C>A
n.796C>A
Xg.111401139_111401142delinsGGATCA2451697237DCXc.553_556delinsATCC (p.Ile185=)
c.796_799delinsATCC (p.Ile266=)
c.771_774delinsATCC
n.793_796delinsATCC
Xg.111401140G>ACA518114021DCXc.555C>T (p.Ile185=)
c.798C>T (p.Ile266=)
c.773C>T
n.795C>T
dbSNP gnomAD v2 gnomAD v4
Xg.111401140G>CCA414246107DCXc.555C>G (p.Ile185Met)
c.798C>G (p.Ile266Met)
c.773C>G
n.795C>G
Xg.111401140G=CA2451697239DCXc.555C= (p.Ile185=)
c.798C= (p.Ile266=)
c.773C=
n.795C=
Xg.111401140G>TCA518114020DCXc.555C>A (p.Ile185=)
c.798C>A (p.Ile266=)
c.773C>A
n.795C>A
Xg.111401144_111401146delCA2451697238DCXc.553_555del (p.Ile185del)
c.796_798del (p.Ile266del)
c.771_773del
n.793_795del
dbSNP
Xg.111401141A>CCA414246108DCXc.554T>G (p.Ile185Ser)
c.797T>G (p.Ile266Ser)
c.772T>G
n.794T>G
Xg.111401141A>GCA414246109DCXc.554T>C (p.Ile185Thr)
c.797T>C (p.Ile266Thr)
c.772T>C
n.794T>C
Xg.111401141A>TCA414246110DCXc.554T>A (p.Ile185Asn)
c.797T>A (p.Ile266Asn)
c.772T>A
n.794T>A

Number of alleles fetched