Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.19197545A=CA2326726707RFXANKc.362A= (p.Asp121=)
c.293A= (p.Asp98=)
c.296A= (p.Asp99=)
c.191A= (p.Asp64=)
n.555A=
n.291A=
n.770A=
c.359A= (p.Asp120=)
19g.19197545A>CCA404894481RFXANKc.362A>C (p.Asp121Ala)
c.293A>C (p.Asp98Ala)
c.296A>C (p.Asp99Ala)
c.191A>C (p.Asp64Ala)
n.555A>C
n.291A>C
n.770A>C
c.359A>C (p.Asp120Ala)
19g.19197545A>GCA404894483RFXANKc.362A>G (p.Asp121Gly)
c.293A>G (p.Asp98Gly)
c.296A>G (p.Asp99Gly)
c.191A>G (p.Asp64Gly)
n.555A>G
n.291A>G
n.770A>G
c.359A>G (p.Asp120Gly)
19g.19197545A>TCA118365RFXANKc.362A>T (p.Asp121Val)
c.293A>T (p.Asp98Val)
c.296A>T (p.Asp99Val)
c.191A>T (p.Asp64Val)
n.555A>T
n.291A>T
n.770A>T
c.359A>T (p.Asp120Val)
 ClinVar dbSNP
19g.19197546C>ACA404894490RFXANKc.363C>A (p.Asp121Glu)
c.294C>A (p.Asp98Glu)
c.297C>A (p.Asp99Glu)
c.192C>A (p.Asp64Glu)
n.556C>A
n.292C>A
n.771C>A
c.360C>A (p.Asp120Glu)
19g.19197546C=CA2326726708RFXANKc.363C= (p.Asp121=)
c.294C= (p.Asp98=)
c.297C= (p.Asp99=)
c.192C= (p.Asp64=)
n.556C=
n.292C=
n.771C=
c.360C= (p.Asp120=)
19g.19197546C>GCA404894492RFXANKc.363C>G (p.Asp121Glu)
c.294C>G (p.Asp98Glu)
c.297C>G (p.Asp99Glu)
c.192C>G (p.Asp64Glu)
n.556C>G
n.292C>G
n.771C>G
c.360C>G (p.Asp120Glu)
 gnomAD v4
19g.19197546C>TCA9322719RFXANKc.363C>T (p.Asp121=)
c.294C>T (p.Asp98=)
c.297C>T (p.Asp99=)
c.192C>T (p.Asp64=)
n.556C>T
n.292C>T
n.771C>T
c.360C>T (p.Asp120=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.19197547G>ACA9322720RFXANKc.364G>A (p.Glu122Lys)
c.295G>A (p.Glu99Lys)
c.298G>A (p.Glu100Lys)
c.193G>A (p.Glu65Lys)
n.557G>A
n.293G>A
n.772G>A
c.361G>A (p.Glu121Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.19197547G>CCA404894500RFXANKc.364G>C (p.Glu122Gln)
c.295G>C (p.Glu99Gln)
c.298G>C (p.Glu100Gln)
c.193G>C (p.Glu65Gln)
n.557G>C
n.293G>C
n.772G>C
c.361G>C (p.Glu121Gln)
19g.19197547G=CA2326726709RFXANKc.364G= (p.Glu122=)
c.295G= (p.Glu99=)
c.298G= (p.Glu100=)
c.193G= (p.Glu65=)
n.557G=
n.293G=
n.772G=
c.361G= (p.Glu121=)
19g.19197547G>TCA404894496RFXANKc.364G>T (p.Glu122Ter)
c.295G>T (p.Glu99Ter)
c.298G>T (p.Glu100Ter)
c.193G>T (p.Glu65Ter)
n.557G>T
n.293G>T
n.772G>T
c.361G>T (p.Glu121Ter)
19g.19197548A>CCA404894505RFXANKc.365A>C (p.Glu122Ala)
c.296A>C (p.Glu99Ala)
c.299A>C (p.Glu100Ala)
c.194A>C (p.Glu65Ala)
n.558A>C
n.294A>C
n.773A>C
c.362A>C (p.Glu121Ala)
19g.19197548A>GCA404894503RFXANKc.365A>G (p.Glu122Gly)
c.296A>G (p.Glu99Gly)
c.299A>G (p.Glu100Gly)
c.194A>G (p.Glu65Gly)
n.558A>G
n.294A>G
n.773A>G
c.362A>G (p.Glu121Gly)
19g.19197548A>TCA404894508RFXANKc.365A>T (p.Glu122Val)
c.296A>T (p.Glu99Val)
c.299A>T (p.Glu100Val)
c.194A>T (p.Glu65Val)
n.558A>T
n.294A>T
n.773A>T
c.362A>T (p.Glu121Val)
19g.19197549G>ACA506125356RFXANKc.366G>A (p.Glu122=)
c.297G>A (p.Glu99=)
c.300G>A (p.Glu100=)
c.195G>A (p.Glu65=)
n.559G>A
n.295G>A
n.774G>A
c.363G>A (p.Glu121=)
 gnomAD v4
19g.19197549G>CCA404894510RFXANKc.366G>C (p.Glu122Asp)
c.297G>C (p.Glu99Asp)
c.300G>C (p.Glu100Asp)
c.195G>C (p.Glu65Asp)
n.559G>C
n.295G>C
n.774G>C
c.363G>C (p.Glu121Asp)
19g.19197549G>TCA404894512RFXANKc.366G>T (p.Glu122Asp)
c.297G>T (p.Glu99Asp)
c.300G>T (p.Glu100Asp)
c.195G>T (p.Glu65Asp)
n.559G>T
n.295G>T
n.774G>T
c.363G>T (p.Glu121Asp)
19g.19197550C>ACA404894515RFXANKc.367C>A (p.Arg123Ser)
c.298C>A (p.Arg100Ser)
c.301C>A (p.Arg101Ser)
c.196C>A (p.Arg66Ser)
n.560C>A
n.296C>A
n.775C>A
c.364C>A (p.Arg122Ser)
19g.19197550C=CA2326726710RFXANKc.367C= (p.Arg123=)
c.298C= (p.Arg100=)
c.301C= (p.Arg101=)
c.196C= (p.Arg66=)
n.560C=
n.296C=
n.775C=
c.364C= (p.Arg122=)
19g.19197550C>GCA404894518RFXANKc.367C>G (p.Arg123Gly)
c.298C>G (p.Arg100Gly)
c.301C>G (p.Arg101Gly)
c.196C>G (p.Arg66Gly)
n.560C>G
n.296C>G
n.775C>G
c.364C>G (p.Arg122Gly)
 gnomAD v4
19g.19197550C>TCA9322721RFXANKc.367C>T (p.Arg123Cys)
c.298C>T (p.Arg100Cys)
c.301C>T (p.Arg101Cys)
c.196C>T (p.Arg66Cys)
n.560C>T
n.296C>T
n.775C>T
c.364C>T (p.Arg122Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.19197551G>ACA9322722RFXANKc.368G>A (p.Arg123His)
c.299G>A (p.Arg100His)
c.302G>A (p.Arg101His)
c.197G>A (p.Arg66His)
n.561G>A
n.297G>A
n.776G>A
c.365G>A (p.Arg122His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.19197551G>CCA404894524RFXANKc.368G>C (p.Arg123Pro)
c.299G>C (p.Arg100Pro)
c.302G>C (p.Arg101Pro)
c.197G>C (p.Arg66Pro)
n.561G>C
n.297G>C
n.776G>C
c.365G>C (p.Arg122Pro)
19g.19197551G=CA2326726711RFXANKc.368G= (p.Arg123=)
c.299G= (p.Arg100=)
c.302G= (p.Arg101=)
c.197G= (p.Arg66=)
n.561G=
n.297G=
n.776G=
c.365G= (p.Arg122=)
19g.19197551G>TCA404894527RFXANKc.368G>T (p.Arg123Leu)
c.299G>T (p.Arg100Leu)
c.302G>T (p.Arg101Leu)
c.197G>T (p.Arg66Leu)
n.561G>T
n.297G>T
n.776G>T
c.365G>T (p.Arg122Leu)
 COSMIC
19g.19197552C>ACA506125357RFXANKc.369C>A (p.Arg123=)
c.300C>A (p.Arg100=)
c.303C>A (p.Arg101=)
c.198C>A (p.Arg66=)
n.562C>A
n.298C>A
n.777C>A
c.366C>A (p.Arg122=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.19197552C=CA2326726712RFXANKc.369C= (p.Arg123=)
c.300C= (p.Arg100=)
c.303C= (p.Arg101=)
c.198C= (p.Arg66=)
n.562C=
n.298C=
n.777C=
c.366C= (p.Arg122=)
19g.19197552C>GCA506125358RFXANKc.369C>G (p.Arg123=)
c.300C>G (p.Arg100=)
c.303C>G (p.Arg101=)
c.198C>G (p.Arg66=)
n.562C>G
n.298C>G
n.777C>G
c.366C>G (p.Arg122=)
 gnomAD v4
19g.19197552C>TCA306277107RFXANKc.369C>T (p.Arg123=)
c.300C>T (p.Arg100=)
c.303C>T (p.Arg101=)
c.198C>T (p.Arg66=)
n.562C>T
n.298C>T
n.777C>T
c.366C>T (p.Arg122=)
 dbSNP gnomAD v2 gnomAD v4
19g.19197553G>ACA9322723RFXANKc.370G>A (p.Gly124Ser)
c.301G>A (p.Gly101Ser)
c.304G>A (p.Gly102Ser)
c.199G>A (p.Gly67Ser)
n.563G>A
n.299G>A
n.778G>A
c.367G>A (p.Gly123Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.19197553G>CCA404894536RFXANKc.370G>C (p.Gly124Arg)
c.301G>C (p.Gly101Arg)
c.304G>C (p.Gly102Arg)
c.199G>C (p.Gly67Arg)
n.563G>C
n.299G>C
n.778G>C
c.367G>C (p.Gly123Arg)
19g.19197553G=CA2326726713RFXANKc.370G= (p.Gly124=)
c.301G= (p.Gly101=)
c.304G= (p.Gly102=)
c.199G= (p.Gly67=)
n.563G=
n.299G=
n.778G=
c.367G= (p.Gly123=)
19g.19197553G>TCA404894538RFXANKc.370G>T (p.Gly124Cys)
c.301G>T (p.Gly101Cys)
c.304G>T (p.Gly102Cys)
c.199G>T (p.Gly67Cys)
n.563G>T
n.299G>T
n.778G>T
c.367G>T (p.Gly123Cys)
19g.19197554delCA2813855808RFXANKc.371del (p.Gly124AlafsTer?)
c.302del (p.Gly101AlafsTer?)
c.305del (p.Gly102AlafsTer?)
c.200del (p.Gly67AlafsTer?)
n.564del
n.300del
n.779del
c.368del (p.Gly123AlafsTer?)
19g.19197554G>ACA404894542RFXANKc.371G>A (p.Gly124Asp)
c.302G>A (p.Gly101Asp)
c.305G>A (p.Gly102Asp)
c.200G>A (p.Gly67Asp)
n.564G>A
n.300G>A
n.779G>A
c.368G>A (p.Gly123Asp)
 gnomAD v4
19g.19197554G>CCA404894544RFXANKc.371G>C (p.Gly124Ala)
c.302G>C (p.Gly101Ala)
c.305G>C (p.Gly102Ala)
c.200G>C (p.Gly67Ala)
n.564G>C
n.300G>C
n.779G>C
c.368G>C (p.Gly123Ala)
19g.19197554G>TCA404894547RFXANKc.371G>T (p.Gly124Val)
c.302G>T (p.Gly101Val)
c.305G>T (p.Gly102Val)
c.200G>T (p.Gly67Val)
n.564G>T
n.300G>T
n.779G>T
c.368G>T (p.Gly123Val)
19g.19197555_19197589dupCA2583682413RFXANKc.372_406dup (p.Glu136AlafsTer?)
c.303_337dup (p.Glu113AlafsTer?)
c.306_340dup (p.Glu114AlafsTer?)
c.201_235dup (p.Glu79AlafsTer?)
n.565_599dup
n.301_335dup
n.780_814dup
c.369_403dup (p.Glu135AlafsTer?)
 gnomAD v4
19g.19197555C>ACA506125359RFXANKc.372C>A (p.Gly124=)
c.303C>A (p.Gly101=)
c.306C>A (p.Gly102=)
c.201C>A (p.Gly67=)
n.565C>A
n.301C>A
n.780C>A
c.369C>A (p.Gly123=)
19g.19197555C=CA2326726714RFXANKc.372C= (p.Gly124=)
c.303C= (p.Gly101=)
c.306C= (p.Gly102=)
c.201C= (p.Gly67=)
n.565C=
n.301C=
n.780C=
c.369C= (p.Gly123=)
19g.19197555C>GCA506125360RFXANKc.372C>G (p.Gly124=)
c.303C>G (p.Gly101=)
c.306C>G (p.Gly102=)
c.201C>G (p.Gly67=)
n.565C>G
n.301C>G
n.780C>G
c.369C>G (p.Gly123=)
19g.19197555C>TCA506125361RFXANKc.372C>T (p.Gly124=)
c.303C>T (p.Gly101=)
c.306C>T (p.Gly102=)
c.201C>T (p.Gly67=)
n.565C>T
n.301C>T
n.780C>T
c.369C>T (p.Gly123=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
19g.19197556T>ACA404894562RFXANKc.373T>A (p.Phe125Ile)
c.304T>A (p.Phe102Ile)
c.307T>A (p.Phe103Ile)
c.202T>A (p.Phe68Ile)
n.566T>A
n.302T>A
n.781T>A
c.370T>A (p.Phe124Ile)
19g.19197556T>CCA404894551RFXANKc.373T>C (p.Phe125Leu)
c.304T>C (p.Phe102Leu)
c.307T>C (p.Phe103Leu)
c.202T>C (p.Phe68Leu)
n.566T>C
n.302T>C
n.781T>C
c.370T>C (p.Phe124Leu)
19g.19197556T>GCA404894558RFXANKc.373T>G (p.Phe125Val)
c.304T>G (p.Phe102Val)
c.307T>G (p.Phe103Val)
c.202T>G (p.Phe68Val)
n.566T>G
n.302T>G
n.781T>G
c.370T>G (p.Phe124Val)
19g.19197557T>ACA404894565RFXANKc.374T>A (p.Phe125Tyr)
c.305T>A (p.Phe102Tyr)
c.308T>A (p.Phe103Tyr)
c.203T>A (p.Phe68Tyr)
n.567T>A
n.303T>A
n.782T>A
c.371T>A (p.Phe124Tyr)
19g.19197557T>CCA404894567RFXANKc.374T>C (p.Phe125Ser)
c.305T>C (p.Phe102Ser)
c.308T>C (p.Phe103Ser)
c.203T>C (p.Phe68Ser)
n.567T>C
n.303T>C
n.782T>C
c.371T>C (p.Phe124Ser)
19g.19197557T>GCA404894569RFXANKc.374T>G (p.Phe125Cys)
c.305T>G (p.Phe102Cys)
c.308T>G (p.Phe103Cys)
c.203T>G (p.Phe68Cys)
n.567T>G
n.303T>G
n.782T>G
c.371T>G (p.Phe124Cys)
19g.19197558C>ACA404894576RFXANKc.375C>A (p.Phe125Leu)
c.306C>A (p.Phe102Leu)
c.309C>A (p.Phe103Leu)
c.204C>A (p.Phe68Leu)
n.568C>A
n.304C>A
n.783C>A
c.372C>A (p.Phe124Leu)
19g.19197558C>GCA404894579RFXANKc.375C>G (p.Phe125Leu)
c.306C>G (p.Phe102Leu)
c.309C>G (p.Phe103Leu)
c.204C>G (p.Phe68Leu)
n.568C>G
n.304C>G
n.783C>G
c.372C>G (p.Phe124Leu)
19g.19197558C>TCA506125363RFXANKc.375C>T (p.Phe125=)
c.306C>T (p.Phe102=)
c.309C>T (p.Phe103=)
c.204C>T (p.Phe68=)
n.568C>T
n.304C>T
n.783C>T
c.372C>T (p.Phe124=)
 gnomAD v4
19g.19197559A=CA2326726715RFXANKc.376A= (p.Thr126=)
c.307A= (p.Thr103=)
c.310A= (p.Thr104=)
c.205A= (p.Thr69=)
n.569A=
n.305A=
n.784A=
c.373A= (p.Thr125=)
19g.19197559A>CCA404894593RFXANKc.376A>C (p.Thr126Pro)
c.307A>C (p.Thr103Pro)
c.310A>C (p.Thr104Pro)
c.205A>C (p.Thr69Pro)
n.569A>C
n.305A>C
n.784A>C
c.373A>C (p.Thr125Pro)
 dbSNP
19g.19197559A>GCA404894595RFXANKc.376A>G (p.Thr126Ala)
c.307A>G (p.Thr103Ala)
c.310A>G (p.Thr104Ala)
c.205A>G (p.Thr69Ala)
n.569A>G
n.305A>G
n.784A>G
c.373A>G (p.Thr125Ala)
19g.19197559A>TCA404894598RFXANKc.376A>T (p.Thr126Ser)
c.307A>T (p.Thr103Ser)
c.310A>T (p.Thr104Ser)
c.205A>T (p.Thr69Ser)
n.569A>T
n.305A>T
n.784A>T
c.373A>T (p.Thr125Ser)
19g.19197560C>ACA404894613RFXANKc.377C>A (p.Thr126Asn)
c.308C>A (p.Thr103Asn)
c.311C>A (p.Thr104Asn)
c.206C>A (p.Thr69Asn)
n.570C>A
n.306C>A
n.785C>A
c.374C>A (p.Thr125Asn)
 gnomAD v4
19g.19197560C>GCA404894621RFXANKc.377C>G (p.Thr126Ser)
c.308C>G (p.Thr103Ser)
c.311C>G (p.Thr104Ser)
c.206C>G (p.Thr69Ser)
n.570C>G
n.306C>G
n.785C>G
c.374C>G (p.Thr125Ser)
 ClinVar gnomAD v4
19g.19197560C>TCA404894625RFXANKc.377C>T (p.Thr126Ile)
c.308C>T (p.Thr103Ile)
c.311C>T (p.Thr104Ile)
c.206C>T (p.Thr69Ile)
n.570C>T
n.306C>T
n.785C>T
c.374C>T (p.Thr125Ile)
19g.19197565dupCA632383125RFXANKc.382dup (p.Leu128ProfsTer11)
c.313dup (p.Leu105ProfsTer11)
c.316dup (p.Leu106ProfsTer11)
c.211dup (p.Leu71ProfsTer11)
n.575dup
n.311dup
n.790dup
c.379dup (p.Leu127ProfsTer11)
 dbSNP gnomAD v2 gnomAD v4
19g.19197565delCA645618153RFXANKc.382del (p.Leu128SerfsTer?)
c.313del (p.Leu105SerfsTer?)
c.316del (p.Leu106SerfsTer?)
c.211del (p.Leu71SerfsTer?)
n.575del
n.311del
n.790del
c.379del (p.Leu127SerfsTer?)
 gnomAD v4 COSMIC
19g.19197561_19197570delCA2695228463RFXANKc.378_387del (p.Pro127GlyfsTer?)
c.309_318del (p.Pro104GlyfsTer?)
c.312_321del (p.Pro105GlyfsTer?)
c.207_216del (p.Pro70GlyfsTer?)
n.571_580del
n.307_316del
n.786_795del
c.375_384del (p.Pro126GlyfsTer?)
19g.19197561C>ACA9322724RFXANKc.378C>A (p.Thr126=)
c.309C>A (p.Thr103=)
c.312C>A (p.Thr104=)
c.207C>A (p.Thr69=)
n.571C>A
n.307C>A
n.786C>A
c.375C>A (p.Thr125=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.19197561C=CA2326726716RFXANKc.378C= (p.Thr126=)
c.309C= (p.Thr103=)
c.312C= (p.Thr104=)
c.207C= (p.Thr69=)
n.571C=
n.307C=
n.786C=
c.375C= (p.Thr125=)
19g.19197561C>GCA506125367RFXANKc.378C>G (p.Thr126=)
c.309C>G (p.Thr103=)
c.312C>G (p.Thr104=)
c.207C>G (p.Thr69=)
n.571C>G
n.307C>G
n.786C>G
c.375C>G (p.Thr125=)
 gnomAD v4
19g.19197561C>TCA506125366RFXANKc.378C>T (p.Thr126=)
c.309C>T (p.Thr103=)
c.312C>T (p.Thr104=)
c.207C>T (p.Thr69=)
n.571C>T
n.307C>T
n.786C>T
c.375C>T (p.Thr125=)
 gnomAD v4
19g.19197562C>ACA404894632RFXANKc.379C>A (p.Pro127Thr)
c.310C>A (p.Pro104Thr)
c.313C>A (p.Pro105Thr)
c.208C>A (p.Pro70Thr)
n.572C>A
n.308C>A
n.787C>A
c.376C>A (p.Pro126Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.19197562C=CA2326726717RFXANKc.379C= (p.Pro127=)
c.310C= (p.Pro104=)
c.313C= (p.Pro105=)
c.208C= (p.Pro70=)
n.572C=
n.308C=
n.787C=
c.376C= (p.Pro126=)
19g.19197562C>GCA404894630RFXANKc.379C>G (p.Pro127Ala)
c.310C>G (p.Pro104Ala)
c.313C>G (p.Pro105Ala)
c.208C>G (p.Pro70Ala)
n.572C>G
n.308C>G
n.787C>G
c.376C>G (p.Pro126Ala)
19g.19197562C>TCA404894631RFXANKc.379C>T (p.Pro127Ser)
c.310C>T (p.Pro104Ser)
c.313C>T (p.Pro105Ser)
c.208C>T (p.Pro70Ser)
n.572C>T
n.308C>T
n.787C>T
c.376C>T (p.Pro126Ser)
19g.19197563C>ACA404894633RFXANKc.380C>A (p.Pro127His)
c.311C>A (p.Pro104His)
c.314C>A (p.Pro105His)
c.209C>A (p.Pro70His)
n.573C>A
n.309C>A
n.788C>A
c.377C>A (p.Pro126His)
 ClinVar dbSNP gnomAD v4
19g.19197563C=CA2326726718RFXANKc.380C= (p.Pro127=)
c.311C= (p.Pro104=)
c.314C= (p.Pro105=)
c.209C= (p.Pro70=)
n.573C=
n.309C=
n.788C=
c.377C= (p.Pro126=)
19g.19197563C>GCA404894635RFXANKc.380C>G (p.Pro127Arg)
c.311C>G (p.Pro104Arg)
c.314C>G (p.Pro105Arg)
c.209C>G (p.Pro70Arg)
n.573C>G
n.309C>G
n.788C>G
c.377C>G (p.Pro126Arg)
 ClinVar
19g.19197563C>TCA404894637RFXANKc.380C>T (p.Pro127Leu)
c.311C>T (p.Pro104Leu)
c.314C>T (p.Pro105Leu)
c.209C>T (p.Pro70Leu)
n.573C>T
n.309C>T
n.788C>T
c.377C>T (p.Pro126Leu)
 dbSNP gnomAD v3 gnomAD v4
19g.19197564C>ACA506125368RFXANKc.381C>A (p.Pro127=)
c.312C>A (p.Pro104=)
c.315C>A (p.Pro105=)
c.210C>A (p.Pro70=)
n.574C>A
n.310C>A
n.789C>A
c.378C>A (p.Pro126=)
19g.19197564C=CA2326726719RFXANKc.381C= (p.Pro127=)
c.312C= (p.Pro104=)
c.315C= (p.Pro105=)
c.210C= (p.Pro70=)
n.574C=
n.310C=
n.789C=
c.378C= (p.Pro126=)
19g.19197564C>GCA506125369RFXANKc.381C>G (p.Pro127=)
c.312C>G (p.Pro104=)
c.315C>G (p.Pro105=)
c.210C>G (p.Pro70=)
n.574C>G
n.310C>G
n.789C>G
c.378C>G (p.Pro126=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.19197564C>TCA9322725RFXANKc.381C>T (p.Pro127=)
c.312C>T (p.Pro104=)
c.315C>T (p.Pro105=)
c.210C>T (p.Pro70=)
n.574C>T
n.310C>T
n.789C>T
c.378C>T (p.Pro126=)
 ClinVar dbSNP ExAC gnomAD v2
19g.19197565C>ACA404894645RFXANKc.382C>A (p.Leu128Ile)
c.313C>A (p.Leu105Ile)
c.316C>A (p.Leu106Ile)
c.211C>A (p.Leu71Ile)
n.575C>A
n.311C>A
n.790C>A
c.379C>A (p.Leu127Ile)
 gnomAD v4
19g.19197565C>GCA404894646RFXANKc.382C>G (p.Leu128Val)
c.313C>G (p.Leu105Val)
c.316C>G (p.Leu106Val)
c.211C>G (p.Leu71Val)
n.575C>G
n.311C>G
n.790C>G
c.379C>G (p.Leu127Val)
 gnomAD v4
19g.19197565C>TCA404894650RFXANKc.382C>T (p.Leu128Phe)
c.313C>T (p.Leu105Phe)
c.316C>T (p.Leu106Phe)
c.211C>T (p.Leu71Phe)
n.575C>T
n.311C>T
n.790C>T
c.379C>T (p.Leu127Phe)
 gnomAD v4
19g.19197565_19197566delinsCTCA2326726720RFXANKc.382_383delinsCT (p.Leu128=)
c.313_314delinsCT (p.Leu105=)
c.316_317delinsCT (p.Leu106=)
c.211_212delinsCT (p.Leu71=)
n.575_576delinsCT
n.311_312delinsCT
n.790_791delinsCT
c.379_380delinsCT (p.Leu127=)
19g.19197566delCA9322726RFXANKc.383del (p.Leu128ProfsTer?)
c.314del (p.Leu105ProfsTer?)
c.317del (p.Leu106ProfsTer?)
c.212del (p.Leu71ProfsTer?)
n.576del
n.312del
n.791del
c.380del (p.Leu127ProfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.19197566T>ACA404894654RFXANKc.383T>A (p.Leu128His)
c.314T>A (p.Leu105His)
c.317T>A (p.Leu106His)
c.212T>A (p.Leu71His)
n.576T>A
n.312T>A
n.791T>A
c.380T>A (p.Leu127His)
19g.19197566T>CCA404894658RFXANKc.383T>C (p.Leu128Pro)
c.314T>C (p.Leu105Pro)
c.317T>C (p.Leu106Pro)
c.212T>C (p.Leu71Pro)
n.576T>C
n.312T>C
n.791T>C
c.380T>C (p.Leu127Pro)
 COSMIC
19g.19197566T>GCA404894660RFXANKc.383T>G (p.Leu128Arg)
c.314T>G (p.Leu105Arg)
c.317T>G (p.Leu106Arg)
c.212T>G (p.Leu71Arg)
n.576T>G
n.312T>G
n.791T>G
c.380T>G (p.Leu127Arg)
19g.19197567C>ACA506125371RFXANKc.384C>A (p.Leu128=)
c.315C>A (p.Leu105=)
c.318C>A (p.Leu106=)
c.213C>A (p.Leu71=)
n.577C>A
n.313C>A
n.792C>A
c.381C>A (p.Leu127=)
19g.19197567C>GCA506125372RFXANKc.384C>G (p.Leu128=)
c.315C>G (p.Leu105=)
c.318C>G (p.Leu106=)
c.213C>G (p.Leu71=)
n.577C>G
n.313C>G
n.792C>G
c.381C>G (p.Leu127=)
19g.19197567C>TCA506125373RFXANKc.384C>T (p.Leu128=)
c.315C>T (p.Leu105=)
c.318C>T (p.Leu106=)
c.213C>T (p.Leu71=)
n.577C>T
n.313C>T
n.792C>T
c.381C>T (p.Leu127=)
 gnomAD v4
19g.19197568A>CCA404894665RFXANKc.385A>C (p.Ile129Leu)
c.316A>C (p.Ile106Leu)
c.319A>C (p.Ile107Leu)
c.214A>C (p.Ile72Leu)
n.578A>C
n.314A>C
n.793A>C
c.382A>C (p.Ile128Leu)
19g.19197568A>GCA404894669RFXANKc.385A>G (p.Ile129Val)
c.316A>G (p.Ile106Val)
c.319A>G (p.Ile107Val)
c.214A>G (p.Ile72Val)
n.578A>G
n.314A>G
n.793A>G
c.382A>G (p.Ile128Val)
19g.19197568A>TCA404894667RFXANKc.385A>T (p.Ile129Phe)
c.316A>T (p.Ile106Phe)
c.319A>T (p.Ile107Phe)
c.214A>T (p.Ile72Phe)
n.578A>T
n.314A>T
n.793A>T
c.382A>T (p.Ile128Phe)
19g.19197569T>ACA404894678RFXANKc.386T>A (p.Ile129Asn)
c.317T>A (p.Ile106Asn)
c.320T>A (p.Ile107Asn)
c.215T>A (p.Ile72Asn)
n.579T>A
n.315T>A
n.794T>A
c.383T>A (p.Ile128Asn)
19g.19197569T>CCA404894681RFXANKc.386T>C (p.Ile129Thr)
c.317T>C (p.Ile106Thr)
c.320T>C (p.Ile107Thr)
c.215T>C (p.Ile72Thr)
n.579T>C
n.315T>C
n.794T>C
c.383T>C (p.Ile128Thr)
19g.19197569T>GCA404894682RFXANKc.386T>G (p.Ile129Ser)
c.317T>G (p.Ile106Ser)
c.320T>G (p.Ile107Ser)
c.215T>G (p.Ile72Ser)
n.579T>G
n.315T>G
n.794T>G
c.383T>G (p.Ile128Ser)
19g.19197571_19197578dupCA2583682414RFXANKc.388_395dup (p.Ala133GlyfsTer?)
c.319_326dup (p.Ala110GlyfsTer?)
c.322_329dup (p.Ala111GlyfsTer?)
c.217_224dup (p.Ala76GlyfsTer?)
n.581_588dup
n.317_324dup
n.796_803dup
c.385_392dup (p.Ala132GlyfsTer?)
 gnomAD v4
19g.19197570C>ACA506125380RFXANKc.387C>A (p.Ile129=)
c.318C>A (p.Ile106=)
c.321C>A (p.Ile107=)
c.216C>A (p.Ile72=)
n.580C>A
n.316C>A
n.795C>A
c.384C>A (p.Ile128=)
19g.19197570C>GCA404894686RFXANKc.387C>G (p.Ile129Met)
c.318C>G (p.Ile106Met)
c.321C>G (p.Ile107Met)
c.216C>G (p.Ile72Met)
n.580C>G
n.316C>G
n.795C>G
c.384C>G (p.Ile128Met)
19g.19197570C>TCA506125383RFXANKc.387C>T (p.Ile129=)
c.318C>T (p.Ile106=)
c.321C>T (p.Ile107=)
c.216C>T (p.Ile72=)
n.580C>T
n.316C>T
n.795C>T
c.384C>T (p.Ile128=)
19g.19197571T>ACA404894689RFXANKc.388T>A (p.Trp130Arg)
c.319T>A (p.Trp107Arg)
c.322T>A (p.Trp108Arg)
c.217T>A (p.Trp73Arg)
n.581T>A
n.317T>A
n.796T>A
c.385T>A (p.Trp129Arg)
19g.19197571T>CCA404894692RFXANKc.388T>C (p.Trp130Arg)
c.319T>C (p.Trp107Arg)
c.322T>C (p.Trp108Arg)
c.217T>C (p.Trp73Arg)
n.581T>C
n.317T>C
n.796T>C
c.385T>C (p.Trp129Arg)
19g.19197571T>GCA404894694RFXANKc.388T>G (p.Trp130Gly)
c.319T>G (p.Trp107Gly)
c.322T>G (p.Trp108Gly)
c.217T>G (p.Trp73Gly)
n.581T>G
n.317T>G
n.796T>G
c.385T>G (p.Trp129Gly)
19g.19197571_19197572delinsTGCA2326726721RFXANKc.388_389delinsTG (p.Trp130=)
c.319_320delinsTG (p.Trp107=)
c.322_323delinsTG (p.Trp108=)
c.217_218delinsTG (p.Trp73=)
n.581_582delinsTG
n.317_318delinsTG
n.796_797delinsTG
c.385_386delinsTG (p.Trp129=)
19g.19197572G>ACA404894697RFXANKc.389G>A (p.Trp130Ter)
c.320G>A (p.Trp107Ter)
c.323G>A (p.Trp108Ter)
c.218G>A (p.Trp73Ter)
n.582G>A
n.318G>A
n.797G>A
c.386G>A (p.Trp129Ter)
19g.19197572G>CCA404894698RFXANKc.389G>C (p.Trp130Ser)
c.320G>C (p.Trp107Ser)
c.323G>C (p.Trp108Ser)
c.218G>C (p.Trp73Ser)
n.582G>C
n.318G>C
n.797G>C
c.386G>C (p.Trp129Ser)
19g.19197572G>TCA404894699RFXANKc.389G>T (p.Trp130Leu)
c.320G>T (p.Trp107Leu)
c.323G>T (p.Trp108Leu)
c.218G>T (p.Trp73Leu)
n.582G>T
n.318G>T
n.797G>T
c.386G>T (p.Trp129Leu)
19g.19197574delCA9322727RFXANKc.391del (p.Ala131ProfsTer?)
c.322del (p.Ala108ProfsTer?)
c.325del (p.Ala109ProfsTer?)
c.220del (p.Ala74ProfsTer?)
n.584del
n.320del
n.799del
c.388del (p.Ala130ProfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.19197573G>ACA404894705RFXANKc.390G>A (p.Trp130Ter)
c.321G>A (p.Trp107Ter)
c.324G>A (p.Trp108Ter)
c.219G>A (p.Trp73Ter)
n.583G>A
n.319G>A
n.798G>A
c.387G>A (p.Trp129Ter)
19g.19197573G>CCA404894707RFXANKc.390G>C (p.Trp130Cys)
c.321G>C (p.Trp107Cys)
c.324G>C (p.Trp108Cys)
c.219G>C (p.Trp73Cys)
n.583G>C
n.319G>C
n.798G>C
c.387G>C (p.Trp129Cys)
19g.19197573G>TCA404894702RFXANKc.390G>T (p.Trp130Cys)
c.321G>T (p.Trp107Cys)
c.324G>T (p.Trp108Cys)
c.219G>T (p.Trp73Cys)
n.583G>T
n.319G>T
n.798G>T
c.387G>T (p.Trp129Cys)
19g.19197574G>ACA404894716RFXANKc.391G>A (p.Ala131Thr)
c.322G>A (p.Ala108Thr)
c.325G>A (p.Ala109Thr)
c.220G>A (p.Ala74Thr)
n.584G>A
n.320G>A
n.799G>A
c.388G>A (p.Ala130Thr)
19g.19197574G>CCA404894710RFXANKc.391G>C (p.Ala131Pro)
c.322G>C (p.Ala108Pro)
c.325G>C (p.Ala109Pro)
c.220G>C (p.Ala74Pro)
n.584G>C
n.320G>C
n.799G>C
c.388G>C (p.Ala130Pro)
19g.19197574G>TCA404894713RFXANKc.391G>T (p.Ala131Ser)
c.322G>T (p.Ala108Ser)
c.325G>T (p.Ala109Ser)
c.220G>T (p.Ala74Ser)
n.584G>T
n.320G>T
n.799G>T
c.388G>T (p.Ala130Ser)
19g.19197578_19197583delCA2583682415RFXANKc.395_400del (p.Ser132_Ala133del)
c.326_331del (p.Ser109_Ala110del)
c.329_334del (p.Ser110_Ala111del)
c.224_229del (p.Ser75_Ala76del)
n.588_593del
n.324_329del
n.803_808del
c.392_397del (p.Ser131_Ala132del)
 gnomAD v4
19g.19197575C>ACA404894719RFXANKc.392C>A (p.Ala131Asp)
c.323C>A (p.Ala108Asp)
c.326C>A (p.Ala109Asp)
c.221C>A (p.Ala74Asp)
n.585C>A
n.321C>A
n.800C>A
c.389C>A (p.Ala130Asp)
19g.19197575C>GCA404894736RFXANKc.392C>G (p.Ala131Gly)
c.323C>G (p.Ala108Gly)
c.326C>G (p.Ala109Gly)
c.221C>G (p.Ala74Gly)
n.585C>G
n.321C>G
n.800C>G
c.389C>G (p.Ala130Gly)
19g.19197575C>TCA404894740RFXANKc.392C>T (p.Ala131Val)
c.323C>T (p.Ala108Val)
c.326C>T (p.Ala109Val)
c.221C>T (p.Ala74Val)
n.585C>T
n.321C>T
n.800C>T
c.389C>T (p.Ala130Val)
19g.19197576C>ACA506125399RFXANKc.393C>A (p.Ala131=)
c.324C>A (p.Ala108=)
c.327C>A (p.Ala109=)
c.222C>A (p.Ala74=)
n.586C>A
n.322C>A
n.801C>A
c.390C>A (p.Ala130=)
19g.19197576C=CA2326726722RFXANKc.393C= (p.Ala131=)
c.324C= (p.Ala108=)
c.327C= (p.Ala109=)
c.222C= (p.Ala74=)
n.586C=
n.322C=
n.801C=
c.390C= (p.Ala130=)
19g.19197576C>GCA506125397RFXANKc.393C>G (p.Ala131=)
c.324C>G (p.Ala108=)
c.327C>G (p.Ala109=)
c.222C>G (p.Ala74=)
n.586C>G
n.322C>G
n.801C>G
c.390C>G (p.Ala130=)
19g.19197576C>TCA9322728RFXANKc.393C>T (p.Ala131=)
c.324C>T (p.Ala108=)
c.327C>T (p.Ala109=)
c.222C>T (p.Ala74=)
n.586C>T
n.322C>T
n.801C>T
c.390C>T (p.Ala130=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.19197577T>ACA404894746RFXANKc.394T>A (p.Ser132Thr)
c.325T>A (p.Ser109Thr)
c.328T>A (p.Ser110Thr)
c.223T>A (p.Ser75Thr)
n.587T>A
n.323T>A
n.802T>A
c.391T>A (p.Ser131Thr)
19g.19197577T>CCA404894749RFXANKc.394T>C (p.Ser132Pro)
c.325T>C (p.Ser109Pro)
c.328T>C (p.Ser110Pro)
c.223T>C (p.Ser75Pro)
n.587T>C
n.323T>C
n.802T>C
c.391T>C (p.Ser131Pro)
19g.19197577T>GCA404894753RFXANKc.394T>G (p.Ser132Ala)
c.325T>G (p.Ser109Ala)
c.328T>G (p.Ser110Ala)
c.223T>G (p.Ser75Ala)
n.587T>G
n.323T>G
n.802T>G
c.391T>G (p.Ser131Ala)
19g.19197578C>ACA404894757RFXANKc.395C>A (p.Ser132Tyr)
c.326C>A (p.Ser109Tyr)
c.329C>A (p.Ser110Tyr)
c.224C>A (p.Ser75Tyr)
n.588C>A
n.324C>A
n.803C>A
c.392C>A (p.Ser131Tyr)
19g.19197578C>GCA404894759RFXANKc.395C>G (p.Ser132Cys)
c.326C>G (p.Ser109Cys)
c.329C>G (p.Ser110Cys)
c.224C>G (p.Ser75Cys)
n.588C>G
n.324C>G
n.803C>G
c.392C>G (p.Ser131Cys)
19g.19197578C>TCA404894762RFXANKc.395C>T (p.Ser132Phe)
c.326C>T (p.Ser109Phe)
c.329C>T (p.Ser110Phe)
c.224C>T (p.Ser75Phe)
n.588C>T
n.324C>T
n.803C>T
c.392C>T (p.Ser131Phe)
19g.19197579C>ACA506125412RFXANKc.396C>A (p.Ser132=)
c.327C>A (p.Ser109=)
c.330C>A (p.Ser110=)
c.225C>A (p.Ser75=)
n.589C>A
n.325C>A
n.804C>A
c.393C>A (p.Ser131=)
19g.19197579C=CA2326726723RFXANKc.396C= (p.Ser132=)
c.327C= (p.Ser109=)
c.330C= (p.Ser110=)
c.225C= (p.Ser75=)
n.589C=
n.325C=
n.804C=
c.393C= (p.Ser131=)
19g.19197579C>GCA506125410RFXANKc.396C>G (p.Ser132=)
c.327C>G (p.Ser109=)
c.330C>G (p.Ser110=)
c.225C>G (p.Ser75=)
n.589C>G
n.325C>G
n.804C>G
c.393C>G (p.Ser131=)
 dbSNP
19g.19197579C>TCA9322729RFXANKc.396C>T (p.Ser132=)
c.327C>T (p.Ser109=)
c.330C>T (p.Ser110=)
c.225C>T (p.Ser75=)
n.589C>T
n.325C>T
n.804C>T
c.393C>T (p.Ser131=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.19197580G>ACA9322730RFXANKc.397G>A (p.Ala133Thr)
c.328G>A (p.Ala110Thr)
c.331G>A (p.Ala111Thr)
c.226G>A (p.Ala76Thr)
n.590G>A
n.326G>A
n.805G>A
c.394G>A (p.Ala132Thr)
 dbSNP ExAC gnomAD v4
19g.19197580G>CCA404894768RFXANKc.397G>C (p.Ala133Pro)
c.328G>C (p.Ala110Pro)
c.331G>C (p.Ala111Pro)
c.226G>C (p.Ala76Pro)
n.590G>C
n.326G>C
n.805G>C
c.394G>C (p.Ala132Pro)
19g.19197580G=CA2326726724RFXANKc.397G= (p.Ala133=)
c.328G= (p.Ala110=)
c.331G= (p.Ala111=)
c.226G= (p.Ala76=)
n.590G=
n.326G=
n.805G=
c.394G= (p.Ala132=)
19g.19197580G>TCA404894771RFXANKc.397G>T (p.Ala133Ser)
c.328G>T (p.Ala110Ser)
c.331G>T (p.Ala111Ser)
c.226G>T (p.Ala76Ser)
n.590G>T
n.326G>T
n.805G>T
c.394G>T (p.Ala132Ser)
19g.19197581C>ACA404894779RFXANKc.398C>A (p.Ala133Asp)
c.329C>A (p.Ala110Asp)
c.332C>A (p.Ala111Asp)
c.227C>A (p.Ala76Asp)
n.591C>A
n.327C>A
n.806C>A
c.395C>A (p.Ala132Asp)
19g.19197581C>GCA404894782RFXANKc.398C>G (p.Ala133Gly)
c.329C>G (p.Ala110Gly)
c.332C>G (p.Ala111Gly)
c.227C>G (p.Ala76Gly)
n.591C>G
n.327C>G
n.806C>G
c.395C>G (p.Ala132Gly)
 COSMIC
19g.19197581C>TCA404894792RFXANKc.398C>T (p.Ala133Val)
c.329C>T (p.Ala110Val)
c.332C>T (p.Ala111Val)
c.227C>T (p.Ala76Val)
n.591C>T
n.327C>T
n.806C>T
c.395C>T (p.Ala132Val)
19g.19197582C>ACA506125426RFXANKc.399C>A (p.Ala133=)
c.330C>A (p.Ala110=)
c.333C>A (p.Ala111=)
c.228C>A (p.Ala76=)
n.592C>A
n.328C>A
n.807C>A
c.396C>A (p.Ala132=)
19g.19197582C=CA2326726725RFXANKc.399C= (p.Ala133=)
c.330C= (p.Ala110=)
c.333C= (p.Ala111=)
c.228C= (p.Ala76=)
n.592C=
n.328C=
n.807C=
c.396C= (p.Ala132=)
19g.19197582C>GCA506125424RFXANKc.399C>G (p.Ala133=)
c.330C>G (p.Ala110=)
c.333C>G (p.Ala111=)
c.228C>G (p.Ala76=)
n.592C>G
n.328C>G
n.807C>G
c.396C>G (p.Ala132=)
19g.19197582C>TCA9322731RFXANKc.399C>T (p.Ala133=)
c.330C>T (p.Ala110=)
c.333C>T (p.Ala111=)
c.228C>T (p.Ala76=)
n.592C>T
n.328C>T
n.807C>T
c.396C>T (p.Ala132=)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
19g.19197583T>ACA404894801RFXANKc.400T>A (p.Phe134Ile)
c.331T>A (p.Phe111Ile)
c.334T>A (p.Phe112Ile)
c.229T>A (p.Phe77Ile)
n.593T>A
n.329T>A
n.808T>A
c.397T>A (p.Phe133Ile)
19g.19197583T>CCA404894807RFXANKc.400T>C (p.Phe134Leu)
c.331T>C (p.Phe111Leu)
c.334T>C (p.Phe112Leu)
c.229T>C (p.Phe77Leu)
n.593T>C
n.329T>C
n.808T>C
c.397T>C (p.Phe133Leu)
 ClinVar dbSNP
19g.19197583T>GCA404894808RFXANKc.400T>G (p.Phe134Val)
c.331T>G (p.Phe111Val)
c.334T>G (p.Phe112Val)
c.229T>G (p.Phe77Val)
n.593T>G
n.329T>G
n.808T>G
c.397T>G (p.Phe133Val)
19g.19197584T>ACA404894815RFXANKc.401T>A (p.Phe134Tyr)
c.332T>A (p.Phe111Tyr)
c.335T>A (p.Phe112Tyr)
c.230T>A (p.Phe77Tyr)
n.594T>A
n.330T>A
n.809T>A
c.398T>A (p.Phe133Tyr)
19g.19197584T>CCA404894817RFXANKc.401T>C (p.Phe134Ser)
c.332T>C (p.Phe111Ser)
c.335T>C (p.Phe112Ser)
c.230T>C (p.Phe77Ser)
n.594T>C
n.330T>C
n.809T>C
c.398T>C (p.Phe133Ser)
 gnomAD v4
19g.19197584T>GCA404894821RFXANKc.401T>G (p.Phe134Cys)
c.332T>G (p.Phe111Cys)
c.335T>G (p.Phe112Cys)
c.230T>G (p.Phe77Cys)
n.594T>G
n.330T>G
n.809T>G
c.398T>G (p.Phe133Cys)
 gnomAD v4
19g.19197585T>ACA404894835RFXANKc.402T>A (p.Phe134Leu)
c.333T>A (p.Phe111Leu)
c.336T>A (p.Phe112Leu)
c.231T>A (p.Phe77Leu)
n.595T>A
n.331T>A
n.810T>A
c.399T>A (p.Phe133Leu)
19g.19197585T>CCA506125434RFXANKc.402T>C (p.Phe134=)
c.333T>C (p.Phe111=)
c.336T>C (p.Phe112=)
c.231T>C (p.Phe77=)
n.595T>C
n.331T>C
n.810T>C
c.399T>C (p.Phe133=)
19g.19197585T>GCA404894838RFXANKc.402T>G (p.Phe134Leu)
c.333T>G (p.Phe111Leu)
c.336T>G (p.Phe112Leu)
c.231T>G (p.Phe77Leu)
n.595T>G
n.331T>G
n.810T>G
c.399T>G (p.Phe133Leu)
19g.19197586G>ACA404894847RFXANKc.403G>A (p.Gly135Arg)
c.334G>A (p.Gly112Arg)
c.337G>A (p.Gly113Arg)
c.232G>A (p.Gly78Arg)
n.596G>A
n.332G>A
n.811G>A
c.400G>A (p.Gly134Arg)
19g.19197586G>CCA404894845RFXANKc.403G>C (p.Gly135Arg)
c.334G>C (p.Gly112Arg)
c.337G>C (p.Gly113Arg)
c.232G>C (p.Gly78Arg)
n.596G>C
n.332G>C
n.811G>C
c.400G>C (p.Gly134Arg)
19g.19197586G>TCA404894843RFXANKc.403G>T (p.Gly135Ter)
c.334G>T (p.Gly112Ter)
c.337G>T (p.Gly113Ter)
c.232G>T (p.Gly78Ter)
n.596G>T
n.332G>T
n.811G>T
c.400G>T (p.Gly134Ter)
19g.19197587G>ACA306277122RFXANKc.404G>A (p.Gly135Glu)
c.335G>A (p.Gly112Glu)
c.338G>A (p.Gly113Glu)
c.233G>A (p.Gly78Glu)
n.597G>A
n.333G>A
n.812G>A
c.401G>A (p.Gly134Glu)
 ClinVar dbSNP
19g.19197587G>CCA404894854RFXANKc.404G>C (p.Gly135Ala)
c.335G>C (p.Gly112Ala)
c.338G>C (p.Gly113Ala)
c.233G>C (p.Gly78Ala)
n.597G>C
n.333G>C
n.812G>C
c.401G>C (p.Gly134Ala)
19g.19197587G=CA2326726726RFXANKc.404G= (p.Gly135=)
c.335G= (p.Gly112=)
c.338G= (p.Gly113=)
c.233G= (p.Gly78=)
n.597G=
n.333G=
n.812G=
c.401G= (p.Gly134=)
19g.19197587G>TCA404894858RFXANKc.404G>T (p.Gly135Val)
c.335G>T (p.Gly112Val)
c.338G>T (p.Gly113Val)
c.233G>T (p.Gly78Val)
n.597G>T
n.333G>T
n.812G>T
c.401G>T (p.Gly134Val)
19g.19197588A>CCA506125453RFXANKc.405A>C (p.Gly135=)
c.336A>C (p.Gly112=)
c.339A>C (p.Gly113=)
c.234A>C (p.Gly78=)
n.598A>C
n.334A>C
n.813A>C
c.402A>C (p.Gly134=)
19g.19197588A>GCA506125451RFXANKc.405A>G (p.Gly135=)
c.336A>G (p.Gly112=)
c.339A>G (p.Gly113=)
c.234A>G (p.Gly78=)
n.598A>G
n.334A>G
n.813A>G
c.402A>G (p.Gly134=)
19g.19197588A>TCA506125455RFXANKc.405A>T (p.Gly135=)
c.336A>T (p.Gly112=)
c.339A>T (p.Gly113=)
c.234A>T (p.Gly78=)
n.598A>T
n.334A>T
n.813A>T
c.402A>T (p.Gly134=)
19g.19197589G>ACA404894862RFXANKc.406G>A (p.Glu136Lys)
c.337G>A (p.Glu113Lys)
c.340G>A (p.Glu114Lys)
c.235G>A (p.Glu79Lys)
n.599G>A
n.335G>A
n.814G>A
c.403G>A (p.Glu135Lys)
 dbSNP gnomAD v4
19g.19197589G>CCA404894864RFXANKc.406G>C (p.Glu136Gln)
c.337G>C (p.Glu113Gln)
c.340G>C (p.Glu114Gln)
c.235G>C (p.Glu79Gln)
n.599G>C
n.335G>C
n.814G>C
c.403G>C (p.Glu135Gln)
19g.19197589G=CA2326726727RFXANKc.406G= (p.Glu136=)
c.337G= (p.Glu113=)
c.340G= (p.Glu114=)
c.235G= (p.Glu79=)
n.599G=
n.335G=
n.814G=
c.403G= (p.Glu135=)
19g.19197589G>TCA404894865RFXANKc.406G>T (p.Glu136Ter)
c.337G>T (p.Glu113Ter)
c.340G>T (p.Glu114Ter)
c.235G>T (p.Glu79Ter)
n.599G>T
n.335G>T
n.814G>T
c.403G>T (p.Glu135Ter)
19g.19197590A>CCA404894883RFXANKc.407A>C (p.Glu136Ala)
c.338A>C (p.Glu113Ala)
c.341A>C (p.Glu114Ala)
c.236A>C (p.Glu79Ala)
n.600A>C
n.336A>C
n.815A>C
c.404A>C (p.Glu135Ala)
19g.19197590A>GCA404894868RFXANKc.407A>G (p.Glu136Gly)
c.338A>G (p.Glu113Gly)
c.341A>G (p.Glu114Gly)
c.236A>G (p.Glu79Gly)
n.600A>G
n.336A>G
n.815A>G
c.404A>G (p.Glu135Gly)
19g.19197590A>TCA404894872RFXANKc.407A>T (p.Glu136Val)
c.338A>T (p.Glu113Val)
c.341A>T (p.Glu114Val)
c.236A>T (p.Glu79Val)
n.600A>T
n.336A>T
n.815A>T
c.404A>T (p.Glu135Val)
19g.19197591G>ACA506125469RFXANKc.408G>A (p.Glu136=)
c.339G>A (p.Glu113=)
c.342G>A (p.Glu114=)
c.237G>A (p.Glu79=)
n.601G>A
n.337G>A
n.816G>A
c.405G>A (p.Glu135=)
19g.19197591G>CCA404894886RFXANKc.408G>C (p.Glu136Asp)
c.339G>C (p.Glu113Asp)
c.342G>C (p.Glu114Asp)
c.237G>C (p.Glu79Asp)
n.601G>C
n.337G>C
n.816G>C
c.405G>C (p.Glu135Asp)
19g.19197591G>TCA404894891RFXANKc.408G>T (p.Glu136Asp)
c.339G>T (p.Glu113Asp)
c.342G>T (p.Glu114Asp)
c.237G>T (p.Glu79Asp)
n.601G>T
n.337G>T
n.816G>T
c.405G>T (p.Glu135Asp)
19g.19197592A=CA2326726728RFXANKc.409A= (p.Ile137=)
c.340A= (p.Ile114=)
c.343A= (p.Ile115=)
c.238A= (p.Ile80=)
n.602A=
n.338A=
n.817A=
c.406A= (p.Ile136=)
19g.19197592A>CCA404894893RFXANKc.409A>C (p.Ile137Leu)
c.340A>C (p.Ile114Leu)
c.343A>C (p.Ile115Leu)
c.238A>C (p.Ile80Leu)
n.602A>C
n.338A>C
n.817A>C
c.406A>C (p.Ile136Leu)
19g.19197592A>GCA404894925RFXANKc.409A>G (p.Ile137Val)
c.340A>G (p.Ile114Val)
c.343A>G (p.Ile115Val)
c.238A>G (p.Ile80Val)
n.602A>G
n.338A>G
n.817A>G
c.406A>G (p.Ile136Val)
19g.19197592A>TCA404894927RFXANKc.409A>T (p.Ile137Phe)
c.340A>T (p.Ile114Phe)
c.343A>T (p.Ile115Phe)
c.238A>T (p.Ile80Phe)
n.602A>T
n.338A>T
n.817A>T
c.406A>T (p.Ile136Phe)
 ClinVar dbSNP
19g.19197593T>ACA404894934RFXANKc.410T>A (p.Ile137Asn)
c.341T>A (p.Ile114Asn)
c.344T>A (p.Ile115Asn)
c.239T>A (p.Ile80Asn)
n.603T>A
n.339T>A
n.818T>A
c.407T>A (p.Ile136Asn)
19g.19197593T>CCA404894938RFXANKc.410T>C (p.Ile137Thr)
c.341T>C (p.Ile114Thr)
c.344T>C (p.Ile115Thr)
c.239T>C (p.Ile80Thr)
n.603T>C
n.339T>C
n.818T>C
c.407T>C (p.Ile136Thr)
 ClinVar dbSNP gnomAD v4
19g.19197593T>GCA404894937RFXANKc.410T>G (p.Ile137Ser)
c.341T>G (p.Ile114Ser)
c.344T>G (p.Ile115Ser)
c.239T>G (p.Ile80Ser)
n.603T>G
n.339T>G
n.818T>G
c.407T>G (p.Ile136Ser)
19g.19197593T=CA2326726729RFXANKc.410T= (p.Ile137=)
c.341T= (p.Ile114=)
c.344T= (p.Ile115=)
c.239T= (p.Ile80=)
n.603T=
n.339T=
n.818T=
c.407T= (p.Ile136=)
19g.19197594T>ACA506125481RFXANKc.411T>A (p.Ile137=)
c.342T>A (p.Ile114=)
c.345T>A (p.Ile115=)
c.240T>A (p.Ile80=)
n.604T>A
n.340T>A
n.819T>A
c.408T>A (p.Ile136=)
19g.19197594T>CCA506125479RFXANKc.411T>C (p.Ile137=)
c.342T>C (p.Ile114=)
c.345T>C (p.Ile115=)
c.240T>C (p.Ile80=)
n.604T>C
n.340T>C
n.819T>C
c.408T>C (p.Ile136=)
 dbSNP
19g.19197594T>GCA404894941RFXANKc.411T>G (p.Ile137Met)
c.342T>G (p.Ile114Met)
c.345T>G (p.Ile115Met)
c.240T>G (p.Ile80Met)
n.604T>G
n.340T>G
n.819T>G
c.408T>G (p.Ile136Met)
 gnomAD v4
19g.19197594T=CA2326726730RFXANKc.411T= (p.Ile137=)
c.342T= (p.Ile114=)
c.345T= (p.Ile115=)
c.240T= (p.Ile80=)
n.604T=
n.340T=
n.819T=
c.408T= (p.Ile136=)
19g.19197595G>ACA404894947RFXANKc.412G>A (p.Glu138Lys)
c.343G>A (p.Glu115Lys)
c.346G>A (p.Glu116Lys)
c.241G>A (p.Glu81Lys)
n.605G>A
n.341G>A
n.820G>A
c.409G>A (p.Glu137Lys)
19g.19197595G>CCA404894951RFXANKc.412G>C (p.Glu138Gln)
c.343G>C (p.Glu115Gln)
c.346G>C (p.Glu116Gln)
c.241G>C (p.Glu81Gln)
n.605G>C
n.341G>C
n.820G>C
c.409G>C (p.Glu137Gln)
 dbSNP COSMIC
19g.19197595G=CA2326726731RFXANKc.412G= (p.Glu138=)
c.343G= (p.Glu115=)
c.346G= (p.Glu116=)
c.241G= (p.Glu81=)
n.605G=
n.341G=
n.820G=
c.409G= (p.Glu137=)
19g.19197595G>TCA404894953RFXANKc.412G>T (p.Glu138Ter)
c.343G>T (p.Glu115Ter)
c.346G>T (p.Glu116Ter)
c.241G>T (p.Glu81Ter)
n.605G>T
n.341G>T
n.820G>T
c.409G>T (p.Glu137Ter)
19g.19197596A>CCA404894956RFXANKc.413A>C (p.Glu138Ala)
c.344A>C (p.Glu115Ala)
c.347A>C (p.Glu116Ala)
c.242A>C (p.Glu81Ala)
n.606A>C
n.342A>C
n.821A>C
c.410A>C (p.Glu137Ala)
19g.19197596A>GCA404894958RFXANKc.413A>G (p.Glu138Gly)
c.344A>G (p.Glu115Gly)
c.347A>G (p.Glu116Gly)
c.242A>G (p.Glu81Gly)
n.606A>G
n.342A>G
n.821A>G
c.410A>G (p.Glu137Gly)
19g.19197596A>TCA404894966RFXANKc.413A>T (p.Glu138Val)
c.344A>T (p.Glu115Val)
c.347A>T (p.Glu116Val)
c.242A>T (p.Glu81Val)
n.606A>T
n.342A>T
n.821A>T
c.410A>T (p.Glu137Val)
19g.19197597G>ACA506125492RFXANKc.414G>A (p.Glu138=)
c.345G>A (p.Glu115=)
c.348G>A (p.Glu116=)
c.243G>A (p.Glu81=)
n.607G>A
n.343G>A
n.822G>A
c.411G>A (p.Glu137=)
19g.19197597G>CCA9322732RFXANKc.414G>C (p.Glu138Asp)
c.345G>C (p.Glu115Asp)
c.348G>C (p.Glu116Asp)
c.243G>C (p.Glu81Asp)
n.607G>C
n.343G>C
n.822G>C
c.411G>C (p.Glu137Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.19197597G=CA2326726732RFXANKc.414G= (p.Glu138=)
c.345G= (p.Glu115=)
c.348G= (p.Glu116=)
c.243G= (p.Glu81=)
n.607G=
n.343G=
n.822G=
c.411G= (p.Glu137=)
19g.19197597G>TCA404894971RFXANKc.414G>T (p.Glu138Asp)
c.345G>T (p.Glu115Asp)
c.348G>T (p.Glu116Asp)
c.243G>T (p.Glu81Asp)
n.607G>T
n.343G>T
n.822G>T
c.411G>T (p.Glu137Asp)
 gnomAD v4
19g.19197598A>CCA404894974RFXANKc.415A>C (p.Thr139Pro)
c.346A>C (p.Thr116Pro)
c.349A>C (p.Thr117Pro)
c.244A>C (p.Thr82Pro)
n.608A>C
n.344A>C
n.823A>C
c.412A>C (p.Thr138Pro)
19g.19197598A>GCA404894976RFXANKc.415A>G (p.Thr139Ala)
c.346A>G (p.Thr116Ala)
c.349A>G (p.Thr117Ala)
c.244A>G (p.Thr82Ala)
n.608A>G
n.344A>G
n.823A>G
c.412A>G (p.Thr138Ala)
19g.19197598A>TCA404894978RFXANKc.415A>T (p.Thr139Ser)
c.346A>T (p.Thr116Ser)
c.349A>T (p.Thr117Ser)
c.244A>T (p.Thr82Ser)
n.608A>T
n.344A>T
n.823A>T
c.412A>T (p.Thr138Ser)
19g.19197598_19197656delinsACCGTTCGCTTCCTGCTGGAGTGGGTGCGTCCCAGCCCAGCTGGGCAGCTGGGGGGTTCCA2326726733RFXANKc.415_438+35delinsACCGTTCGCTTCCTGCTGGAGTGGGTGCGTCCCAGCCCAGCTGGGCAGCTGGGGGGTTC
c.346_369+35delinsACCGTTCGCTTCCTGCTGGAGTGGGTGCGTCCCAGCCCAGCTGGGCAGCTGGGGGGTTC
c.349_372+35delinsACCGTTCGCTTCCTGCTGGAGTGGGTGCGTCCCAGCCCAGCTGGGCAGCTGGGGGGTTC
c.244_267+35delinsACCGTTCGCTTCCTGCTGGAGTGGGTGCGTCCCAGCCCAGCTGGGCAGCTGGGGGGTTC
n.608_631+35delinsACCGTTCGCTTCCTGCTGGAGTGGGTGCGTCCCAGCCCAGCTGGGCAGCTGGGGGGTTC
n.344_367+35delinsACCGTTCGCTTCCTGCTGGAGTGGGTGCGTCCCAGCCCAGCTGGGCAGCTGGGGGGTTC
n.823_881delinsACCGTTCGCTTCCTGCTGGAGTGGGTGCGTCCCAGCCCAGCTGGGCAGCTGGGGGGTTC
c.412_435+35delinsACCGTTCGCTTCCTGCTGGAGTGGGTGCGTCCCAGCCCAGCTGGGCAGCTGGGGGGTTC
19g.19197599C>ACA404894982RFXANKc.416C>A (p.Thr139Asn)
c.347C>A (p.Thr116Asn)
c.350C>A (p.Thr117Asn)
c.245C>A (p.Thr82Asn)
n.609C>A
n.345C>A
n.824C>A
c.413C>A (p.Thr138Asn)
19g.19197599C=CA2326726734RFXANKc.416C= (p.Thr139=)
c.347C= (p.Thr116=)
c.350C= (p.Thr117=)
c.245C= (p.Thr82=)
n.609C=
n.345C=
n.824C=
c.413C= (p.Thr138=)
19g.19197599C>GCA404894983RFXANKc.416C>G (p.Thr139Ser)
c.347C>G (p.Thr116Ser)
c.350C>G (p.Thr117Ser)
c.245C>G (p.Thr82Ser)
n.609C>G
n.345C>G
n.824C>G
c.413C>G (p.Thr138Ser)
19g.19197599C>TCA306277126RFXANKc.416C>T (p.Thr139Ile)
c.347C>T (p.Thr116Ile)
c.350C>T (p.Thr117Ile)
c.245C>T (p.Thr82Ile)
n.609C>T
n.345C>T
n.824C>T
c.413C>T (p.Thr138Ile)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
19g.19197602_19197659delCA632383147RFXANKc.419_438+38del
c.350_369+38del
c.353_372+38del
c.248_267+38del
n.612_631+38del
n.348_367+38del
n.827_884del
c.416_435+38del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.19197600C>ACA506125499RFXANKc.417C>A (p.Thr139=)
c.348C>A (p.Thr116=)
c.351C>A (p.Thr117=)
c.246C>A (p.Thr82=)
n.610C>A
n.346C>A
n.825C>A
c.414C>A (p.Thr138=)
19g.19197600C=CA2326726735RFXANKc.417C= (p.Thr139=)
c.348C= (p.Thr116=)
c.351C= (p.Thr117=)
c.246C= (p.Thr82=)
n.610C=
n.346C=
n.825C=
c.414C= (p.Thr138=)
19g.19197600C>GCA506125498RFXANKc.417C>G (p.Thr139=)
c.348C>G (p.Thr116=)
c.351C>G (p.Thr117=)
c.246C>G (p.Thr82=)
n.610C>G
n.346C>G
n.825C>G
c.414C>G (p.Thr138=)
 dbSNP gnomAD v3 gnomAD v4
19g.19197600C>TCA9322733RFXANKc.417C>T (p.Thr139=)
c.348C>T (p.Thr116=)
c.351C>T (p.Thr117=)
c.246C>T (p.Thr82=)
n.610C>T
n.346C>T
n.825C>T
c.414C>T (p.Thr138=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.19197601G>ACA404894988RFXANKc.418G>A (p.Val140Ile)
c.349G>A (p.Val117Ile)
c.352G>A (p.Val118Ile)
c.247G>A (p.Val83Ile)
n.611G>A
n.347G>A
n.826G>A
c.415G>A (p.Val139Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.19197601G>CCA404895001RFXANKc.418G>C (p.Val140Leu)
c.349G>C (p.Val117Leu)
c.352G>C (p.Val118Leu)
c.247G>C (p.Val83Leu)
n.611G>C
n.347G>C
n.826G>C
c.415G>C (p.Val139Leu)
19g.19197601G=CA2326726736RFXANKc.418G= (p.Val140=)
c.349G= (p.Val117=)
c.352G= (p.Val118=)
c.247G= (p.Val83=)
n.611G=
n.347G=
n.826G=
c.415G= (p.Val139=)
19g.19197601G>TCA404894999RFXANKc.418G>T (p.Val140Phe)
c.349G>T (p.Val117Phe)
c.352G>T (p.Val118Phe)
c.247G>T (p.Val83Phe)
n.611G>T
n.347G>T
n.826G>T
c.415G>T (p.Val139Phe)
 COSMIC
19g.19197602T>ACA404895003RFXANKc.419T>A (p.Val140Asp)
c.350T>A (p.Val117Asp)
c.353T>A (p.Val118Asp)
c.248T>A (p.Val83Asp)
n.612T>A
n.348T>A
n.827T>A
c.416T>A (p.Val139Asp)
19g.19197602T>CCA404895007RFXANKc.419T>C (p.Val140Ala)
c.350T>C (p.Val117Ala)
c.353T>C (p.Val118Ala)
c.248T>C (p.Val83Ala)
n.612T>C
n.348T>C
n.827T>C
c.416T>C (p.Val139Ala)
19g.19197602T>GCA404895010RFXANKc.419T>G (p.Val140Gly)
c.350T>G (p.Val117Gly)
c.353T>G (p.Val118Gly)
c.248T>G (p.Val83Gly)
n.612T>G
n.348T>G
n.827T>G
c.416T>G (p.Val139Gly)
19g.19197603T>ACA506125514RFXANKc.420T>A (p.Val140=)
c.351T>A (p.Val117=)
c.354T>A (p.Val118=)
c.249T>A (p.Val83=)
n.613T>A
n.349T>A
n.828T>A
c.417T>A (p.Val139=)
19g.19197603T>CCA506125512RFXANKc.420T>C (p.Val140=)
c.351T>C (p.Val117=)
c.354T>C (p.Val118=)
c.249T>C (p.Val83=)
n.613T>C
n.349T>C
n.828T>C
c.417T>C (p.Val139=)
19g.19197603T>GCA506125510RFXANKc.420T>G (p.Val140=)
c.351T>G (p.Val117=)
c.354T>G (p.Val118=)
c.249T>G (p.Val83=)
n.613T>G
n.349T>G
n.828T>G
c.417T>G (p.Val139=)
 gnomAD v4
19g.19197604C>ACA404895014RFXANKc.421C>A (p.Arg141Ser)
c.352C>A (p.Arg118Ser)
c.355C>A (p.Arg119Ser)
c.250C>A (p.Arg84Ser)
n.614C>A
n.350C>A
n.829C>A
c.418C>A (p.Arg140Ser)
19g.19197604C=CA2326726737RFXANKc.421C= (p.Arg141=)
c.352C= (p.Arg118=)
c.355C= (p.Arg119=)
c.250C= (p.Arg84=)
n.614C=
n.350C=
n.829C=
c.418C= (p.Arg140=)
19g.19197604C>GCA9322735RFXANKc.421C>G (p.Arg141Gly)
c.352C>G (p.Arg118Gly)
c.355C>G (p.Arg119Gly)
c.250C>G (p.Arg84Gly)
n.614C>G
n.350C>G
n.829C>G
c.418C>G (p.Arg140Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.19197604C>TCA9322734RFXANKc.421C>T (p.Arg141Cys)
c.352C>T (p.Arg118Cys)
c.355C>T (p.Arg119Cys)
c.250C>T (p.Arg84Cys)
n.614C>T
n.350C>T
n.829C>T
c.418C>T (p.Arg140Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.19197605G>ACA9322736RFXANKc.422G>A (p.Arg141His)
c.353G>A (p.Arg118His)
c.356G>A (p.Arg119His)
c.251G>A (p.Arg84His)
n.615G>A
n.351G>A
n.830G>A
c.419G>A (p.Arg140His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.19197605G>CCA404895024RFXANKc.422G>C (p.Arg141Pro)
c.353G>C (p.Arg118Pro)
c.356G>C (p.Arg119Pro)
c.251G>C (p.Arg84Pro)
n.615G>C
n.351G>C
n.830G>C
c.419G>C (p.Arg140Pro)
19g.19197605G=CA2326726738RFXANKc.422G= (p.Arg141=)
c.353G= (p.Arg118=)
c.356G= (p.Arg119=)
c.251G= (p.Arg84=)
n.615G=
n.351G=
n.830G=
c.419G= (p.Arg140=)
19g.19197605G>TCA404895025RFXANKc.422G>T (p.Arg141Leu)
c.353G>T (p.Arg118Leu)
c.356G>T (p.Arg119Leu)
c.251G>T (p.Arg84Leu)
n.615G>T
n.351G>T
n.830G>T
c.419G>T (p.Arg140Leu)
19g.19197606C>ACA506125524RFXANKc.423C>A (p.Arg141=)
c.354C>A (p.Arg118=)
c.357C>A (p.Arg119=)
c.252C>A (p.Arg84=)
n.616C>A
n.352C>A
n.831C>A
c.420C>A (p.Arg140=)
19g.19197606C=CA2326726739RFXANKc.423C= (p.Arg141=)
c.354C= (p.Arg118=)
c.357C= (p.Arg119=)
c.252C= (p.Arg84=)
n.616C=
n.352C=
n.831C=
c.420C= (p.Arg140=)
19g.19197606C>GCA506125521RFXANKc.423C>G (p.Arg141=)
c.354C>G (p.Arg118=)
c.357C>G (p.Arg119=)
c.252C>G (p.Arg84=)
n.616C>G
n.352C>G
n.831C>G
c.420C>G (p.Arg140=)
19g.19197606C>TCA9322737RFXANKc.423C>T (p.Arg141=)
c.354C>T (p.Arg118=)
c.357C>T (p.Arg119=)
c.252C>T (p.Arg84=)
n.616C>T
n.352C>T
n.831C>T
c.420C>T (p.Arg140=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.19197607T>ACA404895039RFXANKc.424T>A (p.Phe142Ile)
c.355T>A (p.Phe119Ile)
c.358T>A (p.Phe120Ile)
c.253T>A (p.Phe85Ile)
n.617T>A
n.353T>A
n.832T>A
c.421T>A (p.Phe141Ile)
19g.19197607T>CCA404895035RFXANKc.424T>C (p.Phe142Leu)
c.355T>C (p.Phe119Leu)
c.358T>C (p.Phe120Leu)
c.253T>C (p.Phe85Leu)
n.617T>C
n.353T>C
n.832T>C
c.421T>C (p.Phe141Leu)
19g.19197607T>GCA404895032RFXANKc.424T>G (p.Phe142Val)
c.355T>G (p.Phe119Val)
c.358T>G (p.Phe120Val)
c.253T>G (p.Phe85Val)
n.617T>G
n.353T>G
n.832T>G
c.421T>G (p.Phe141Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.19197607T=CA2326726740RFXANKc.424T= (p.Phe142=)
c.355T= (p.Phe119=)
c.358T= (p.Phe120=)
c.253T= (p.Phe85=)
n.617T=
n.353T=
n.832T=
c.421T= (p.Phe141=)
19g.19197608T>ACA404895044RFXANKc.425T>A (p.Phe142Tyr)
c.356T>A (p.Phe119Tyr)
c.359T>A (p.Phe120Tyr)
c.254T>A (p.Phe85Tyr)
n.618T>A
n.354T>A
n.833T>A
c.422T>A (p.Phe141Tyr)
19g.19197608T>CCA404895050RFXANKc.425T>C (p.Phe142Ser)
c.356T>C (p.Phe119Ser)
c.359T>C (p.Phe120Ser)
c.254T>C (p.Phe85Ser)
n.618T>C
n.354T>C
n.833T>C
c.422T>C (p.Phe141Ser)
 gnomAD v4
19g.19197608T>GCA404895055RFXANKc.425T>G (p.Phe142Cys)
c.356T>G (p.Phe119Cys)
c.359T>G (p.Phe120Cys)
c.254T>G (p.Phe85Cys)
n.618T>G
n.354T>G
n.833T>G
c.422T>G (p.Phe141Cys)
19g.19197609C>ACA404895064RFXANKc.426C>A (p.Phe142Leu)
c.357C>A (p.Phe119Leu)
c.360C>A (p.Phe120Leu)
c.255C>A (p.Phe85Leu)
n.619C>A
n.355C>A
n.834C>A
c.423C>A (p.Phe141Leu)
 dbSNP gnomAD v3 gnomAD v4
19g.19197609C=CA2326726741RFXANKc.426C= (p.Phe142=)
c.357C= (p.Phe119=)
c.360C= (p.Phe120=)
c.255C= (p.Phe85=)
n.619C=
n.355C=
n.834C=
c.423C= (p.Phe141=)
19g.19197609C>GCA404895071RFXANKc.426C>G (p.Phe142Leu)
c.357C>G (p.Phe119Leu)
c.360C>G (p.Phe120Leu)
c.255C>G (p.Phe85Leu)
n.619C>G
n.355C>G
n.834C>G
c.423C>G (p.Phe141Leu)
19g.19197609C>TCA506125534RFXANKc.426C>T (p.Phe142=)
c.357C>T (p.Phe119=)
c.360C>T (p.Phe120=)
c.255C>T (p.Phe85=)
n.619C>T
n.355C>T
n.834C>T
c.423C>T (p.Phe141=)
19g.19197610C>ACA404895074RFXANKc.427C>A (p.Leu143Met)
c.358C>A (p.Leu120Met)
c.361C>A (p.Leu121Met)
c.256C>A (p.Leu86Met)
n.620C>A
n.356C>A
n.835C>A
c.424C>A (p.Leu142Met)
19g.19197610C>GCA404895075RFXANKc.427C>G (p.Leu143Val)
c.358C>G (p.Leu120Val)
c.361C>G (p.Leu121Val)
c.256C>G (p.Leu86Val)
n.620C>G
n.356C>G
n.835C>G
c.424C>G (p.Leu142Val)
19g.19197610C>TCA506125540RFXANKc.427C>T (p.Leu143=)
c.358C>T (p.Leu120=)
c.361C>T (p.Leu121=)
c.256C>T (p.Leu86=)
n.620C>T
n.356C>T
n.835C>T
c.424C>T (p.Leu142=)
19g.19197611T>ACA404895080RFXANKc.428T>A (p.Leu143Gln)
c.359T>A (p.Leu120Gln)
c.362T>A (p.Leu121Gln)
c.257T>A (p.Leu86Gln)
n.621T>A
n.357T>A
n.836T>A
c.425T>A (p.Leu142Gln)
19g.19197611T>CCA404895083RFXANKc.428T>C (p.Leu143Pro)
c.359T>C (p.Leu120Pro)
c.362T>C (p.Leu121Pro)
c.257T>C (p.Leu86Pro)
n.621T>C
n.357T>C
n.836T>C
c.425T>C (p.Leu142Pro)
19g.19197611T>GCA404895086RFXANKc.428T>G (p.Leu143Arg)
c.359T>G (p.Leu120Arg)
c.362T>G (p.Leu121Arg)
c.257T>G (p.Leu86Arg)
n.621T>G
n.357T>G
n.836T>G
c.425T>G (p.Leu142Arg)
19g.19197611_19197612delinsTGCA2326726742RFXANKc.428_429delinsTG (p.Leu143=)
c.359_360delinsTG (p.Leu120=)
c.362_363delinsTG (p.Leu121=)
c.257_258delinsTG (p.Leu86=)
n.621_622delinsTG
n.357_358delinsTG
n.836_837delinsTG
c.425_426delinsTG (p.Leu142=)
19g.19197612delCA783977639RFXANKc.429del (p.Leu144TrpfsTer?)
c.360del (p.Leu121TrpfsTer?)
c.363del (p.Leu122TrpfsTer?)
c.258del (p.Leu87TrpfsTer?)
n.622del
n.358del
n.837del
c.426del (p.Leu143TrpfsTer?)
 dbSNP
19g.19197612G>ACA506125557RFXANKc.429G>A (p.Leu143=)
c.360G>A (p.Leu120=)
c.363G>A (p.Leu121=)
c.258G>A (p.Leu86=)
n.622G>A
n.358G>A
n.837G>A
c.426G>A (p.Leu142=)
19g.19197612G>CCA506125556RFXANKc.429G>C (p.Leu143=)
c.360G>C (p.Leu120=)
c.363G>C (p.Leu121=)
c.258G>C (p.Leu86=)
n.622G>C
n.358G>C
n.837G>C
c.426G>C (p.Leu142=)
19g.19197612G>TCA506125554RFXANKc.429G>T (p.Leu143=)
c.360G>T (p.Leu120=)
c.363G>T (p.Leu121=)
c.258G>T (p.Leu86=)
n.622G>T
n.358G>T
n.837G>T
c.426G>T (p.Leu142=)
19g.19197613C>ACA404895090RFXANKc.430C>A (p.Leu144Met)
c.361C>A (p.Leu121Met)
c.364C>A (p.Leu122Met)
c.259C>A (p.Leu87Met)
n.623C>A
n.359C>A
n.838C>A
c.427C>A (p.Leu143Met)
 dbSNP
19g.19197613C>GCA404895094RFXANKc.430C>G (p.Leu144Val)
c.361C>G (p.Leu121Val)
c.364C>G (p.Leu122Val)
c.259C>G (p.Leu87Val)
n.623C>G
n.359C>G
n.838C>G
c.427C>G (p.Leu143Val)
19g.19197613C>TCA506125561RFXANKc.430C>T (p.Leu144=)
c.361C>T (p.Leu121=)
c.364C>T (p.Leu122=)
c.259C>T (p.Leu87=)
n.623C>T
n.359C>T
n.838C>T
c.427C>T (p.Leu143=)
19g.19197613dupCA2695228464RFXANKc.430dup (p.Leu144ProfsTer?)
c.361dup (p.Leu121ProfsTer?)
c.364dup (p.Leu122ProfsTer?)
c.259dup (p.Leu87ProfsTer?)
n.623dup
n.359dup
n.838dup
c.427dup (p.Leu143ProfsTer?)
19g.19197614T>ACA404895099RFXANKc.431T>A (p.Leu144Gln)
c.362T>A (p.Leu121Gln)
c.365T>A (p.Leu122Gln)
c.260T>A (p.Leu87Gln)
n.624T>A
n.360T>A
n.839T>A
c.428T>A (p.Leu143Gln)
19g.19197614T>CCA404895100RFXANKc.431T>C (p.Leu144Pro)
c.362T>C (p.Leu121Pro)
c.365T>C (p.Leu122Pro)
c.260T>C (p.Leu87Pro)
n.624T>C
n.360T>C
n.839T>C
c.428T>C (p.Leu143Pro)
 gnomAD v4
19g.19197614T>GCA404895097RFXANKc.431T>G (p.Leu144Arg)
c.362T>G (p.Leu121Arg)
c.365T>G (p.Leu122Arg)
c.260T>G (p.Leu87Arg)
n.624T>G
n.360T>G
n.839T>G
c.428T>G (p.Leu143Arg)
 dbSNP
19g.19197615G>ACA506125574RFXANKc.432G>A (p.Leu144=)
c.363G>A (p.Leu121=)
c.366G>A (p.Leu122=)
c.261G>A (p.Leu87=)
n.625G>A
n.361G>A
n.840G>A
c.429G>A (p.Leu143=)
 gnomAD v4
19g.19197615G>CCA506125572RFXANKc.432G>C (p.Leu144=)
c.363G>C (p.Leu121=)
c.366G>C (p.Leu122=)
c.261G>C (p.Leu87=)
n.625G>C
n.361G>C
n.840G>C
c.429G>C (p.Leu143=)
19g.19197615G>TCA506125569RFXANKc.432G>T (p.Leu144=)
c.363G>T (p.Leu121=)
c.366G>T (p.Leu122=)
c.261G>T (p.Leu87=)
n.625G>T
n.361G>T
n.840G>T
c.429G>T (p.Leu143=)
19g.19197617_19197622dupCA2813855819RFXANKc.434_438+1dup
c.365_369+1dup
c.368_372+1dup
c.263_267+1dup
n.627_631+1dup
n.363_367+1dup
n.842_847dup
c.431_435+1dup
19g.19197616G>ACA404895104RFXANKc.433G>A (p.Glu145Lys)
c.364G>A (p.Glu122Lys)
c.367G>A (p.Glu123Lys)
c.262G>A (p.Glu88Lys)
n.626G>A
n.362G>A
n.841G>A
c.430G>A (p.Glu144Lys)
19g.19197616G>CCA404895110RFXANKc.433G>C (p.Glu145Gln)
c.364G>C (p.Glu122Gln)
c.367G>C (p.Glu123Gln)
c.262G>C (p.Glu88Gln)
n.626G>C
n.362G>C
n.841G>C
c.430G>C (p.Glu144Gln)
19g.19197616G>TCA404895114RFXANKc.433G>T (p.Glu145Ter)
c.364G>T (p.Glu122Ter)
c.367G>T (p.Glu123Ter)
c.262G>T (p.Glu88Ter)
n.626G>T
n.362G>T
n.841G>T
c.430G>T (p.Glu144Ter)
19g.19197617A>CCA404895143RFXANKc.434A>C (p.Glu145Ala)
c.365A>C (p.Glu122Ala)
c.368A>C (p.Glu123Ala)
c.263A>C (p.Glu88Ala)
n.627A>C
n.363A>C
n.842A>C
c.431A>C (p.Glu144Ala)
19g.19197617A>GCA404895146RFXANKc.434A>G (p.Glu145Gly)
c.365A>G (p.Glu122Gly)
c.368A>G (p.Glu123Gly)
c.263A>G (p.Glu88Gly)
n.627A>G
n.363A>G
n.842A>G
c.431A>G (p.Glu144Gly)
19g.19197617A>TCA404895149RFXANKc.434A>T (p.Glu145Val)
c.365A>T (p.Glu122Val)
c.368A>T (p.Glu123Val)
c.263A>T (p.Glu88Val)
n.627A>T
n.363A>T
n.842A>T
c.431A>T (p.Glu144Val)
19g.19197618G>ACA9322738RFXANKc.435G>A (p.Glu145=)
c.366G>A (p.Glu122=)
c.369G>A (p.Glu123=)
c.264G>A (p.Glu88=)
n.628G>A
n.364G>A
n.843G>A
c.432G>A (p.Glu144=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.19197618G>CCA404895158RFXANKc.435G>C (p.Glu145Asp)
c.366G>C (p.Glu122Asp)
c.369G>C (p.Glu123Asp)
c.264G>C (p.Glu88Asp)
n.628G>C
n.364G>C
n.843G>C
c.432G>C (p.Glu144Asp)
 gnomAD v4
19g.19197618G=CA2326726743RFXANKc.435G= (p.Glu145=)
c.366G= (p.Glu122=)
c.369G= (p.Glu123=)
c.264G= (p.Glu88=)
n.628G=
n.364G=
n.843G=
c.432G= (p.Glu144=)
19g.19197618G>TCA404895159RFXANKc.435G>T (p.Glu145Asp)
c.366G>T (p.Glu122Asp)
c.369G>T (p.Glu123Asp)
c.264G>T (p.Glu88Asp)
n.628G>T
n.364G>T
n.843G>T
c.432G>T (p.Glu144Asp)
 gnomAD v4
19g.19197619T>ACA404895160RFXANKc.436T>A (p.Trp146Arg)
c.367T>A (p.Trp123Arg)
c.370T>A (p.Trp124Arg)
c.265T>A (p.Trp89Arg)
n.629T>A
n.365T>A
n.844T>A
c.433T>A (p.Trp145Arg)
19g.19197619T>CCA404895161RFXANKc.436T>C (p.Trp146Arg)
c.367T>C (p.Trp123Arg)
c.370T>C (p.Trp124Arg)
c.265T>C (p.Trp89Arg)
n.629T>C
n.365T>C
n.844T>C
c.433T>C (p.Trp145Arg)
 dbSNP gnomAD v2 gnomAD v4
19g.19197619T>GCA404895164RFXANKc.436T>G (p.Trp146Gly)
c.367T>G (p.Trp123Gly)
c.370T>G (p.Trp124Gly)
c.265T>G (p.Trp89Gly)
n.629T>G
n.365T>G
n.844T>G
c.433T>G (p.Trp145Gly)
 ClinVar dbSNP gnomAD v4
19g.19197619T=CA2326726744RFXANKc.436T= (p.Trp146=)
c.367T= (p.Trp123=)
c.370T= (p.Trp124=)
c.265T= (p.Trp89=)
n.629T=
n.365T=
n.844T=
c.433T= (p.Trp145=)
19g.19197620G>ACA9322739RFXANKc.437G>A (p.Trp146Ter)
c.368G>A (p.Trp123Ter)
c.371G>A (p.Trp124Ter)
c.266G>A (p.Trp89Ter)
n.630G>A
n.366G>A
n.845G>A
c.434G>A (p.Trp145Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.19197620G>CCA404895176RFXANKc.437G>C (p.Trp146Ser)
c.368G>C (p.Trp123Ser)
c.371G>C (p.Trp124Ser)
c.266G>C (p.Trp89Ser)
n.630G>C
n.366G>C
n.845G>C
c.434G>C (p.Trp145Ser)
19g.19197620G=CA2326726745RFXANKc.437G= (p.Trp146=)
c.368G= (p.Trp123=)
c.371G= (p.Trp124=)
c.266G= (p.Trp89=)
n.630G=
n.366G=
n.845G=
c.434G= (p.Trp145=)
19g.19197620G>TCA404895168RFXANKc.437G>T (p.Trp146Leu)
c.368G>T (p.Trp123Leu)
c.371G>T (p.Trp124Leu)
c.266G>T (p.Trp89Leu)
n.630G>T
n.366G>T
n.845G>T
c.434G>T (p.Trp145Leu)
 COSMIC
19g.19197621G>ACA9322740RFXANKc.438G>A (p.Trp146Ter)
c.369G>A (p.Trp123Ter)
c.372G>A (p.Trp124Ter)
c.267G>A (p.Trp89Ter)
n.631G>A
n.367G>A
n.846G>A
c.435G>A (p.Trp145Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.19197621G>CCA404895180RFXANKc.438G>C (p.Trp146Cys)
c.369G>C (p.Trp123Cys)
c.372G>C (p.Trp124Cys)
c.267G>C (p.Trp89Cys)
n.631G>C
n.367G>C
n.846G>C
c.435G>C (p.Trp145Cys)
19g.19197621G=CA2326726746RFXANKc.438G= (p.Trp146=)
c.369G= (p.Trp123=)
c.372G= (p.Trp124=)
c.267G= (p.Trp89=)
n.631G=
n.367G=
n.846G=
c.435G= (p.Trp145=)
19g.19197621G>TCA404895181RFXANKc.438G>T (p.Trp146Cys)
c.369G>T (p.Trp123Cys)
c.372G>T (p.Trp124Cys)
c.267G>T (p.Trp89Cys)
n.631G>T
n.367G>T
n.846G>T
c.435G>T (p.Trp145Cys)
19g.19197622G>ACA404895184RFXANKc.438+1G>A (n.438+1G>A)
c.369+1G>A (n.369+1G>A)
c.372+1G>A (n.372+1G>A)
c.267+1G>A (n.267+1G>A)
n.631+1G>A
n.367+1G>A
n.847G>A
c.435+1G>A (n.435+1G>A)
19g.19197622G>CCA404895189RFXANKc.438+1G>C (n.438+1G>C)
c.369+1G>C (n.369+1G>C)
c.372+1G>C (n.372+1G>C)
c.267+1G>C (n.267+1G>C)
n.631+1G>C
n.367+1G>C
n.847G>C
c.435+1G>C (n.435+1G>C)
19g.19197622G=CA2326726747RFXANKc.438+1G= (n.438+1G=)
c.369+1G= (n.369+1G=)
c.372+1G= (n.372+1G=)
c.267+1G= (n.267+1G=)
n.631+1G=
n.367+1G=
n.847G=
c.435+1G= (n.435+1G=)
19g.19197622G>TCA358094RFXANKc.438+1G>T (n.438+1G>T)
c.369+1G>T (n.369+1G>T)
c.372+1G>T (n.372+1G>T)
c.267+1G>T (n.267+1G>T)
n.631+1G>T
n.367+1G>T
n.847G>T
c.435+1G>T (n.435+1G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.19197623T>ACA404895206RFXANKc.438+2T>A (n.438+2T>A)
c.369+2T>A (n.369+2T>A)
c.372+2T>A (n.372+2T>A)
c.267+2T>A (n.267+2T>A)
n.631+2T>A
n.367+2T>A
n.848T>A
c.435+2T>A (n.435+2T>A)
19g.19197623T>CCA404895195RFXANKc.438+2T>C (n.438+2T>C)
c.369+2T>C (n.369+2T>C)
c.372+2T>C (n.372+2T>C)
c.267+2T>C (n.267+2T>C)
n.631+2T>C
n.367+2T>C
n.848T>C
c.435+2T>C (n.435+2T>C)
19g.19197623T>GCA404895200RFXANKc.438+2T>G (n.438+2T>G)
c.369+2T>G (n.369+2T>G)
c.372+2T>G (n.372+2T>G)
c.267+2T>G (n.267+2T>G)
n.631+2T>G
n.367+2T>G
n.848T>G
c.435+2T>G (n.435+2T>G)
19g.19197624G>ACA994287546RFXANKc.438+3G>A (n.438+3G>A)
c.369+3G>A (n.369+3G>A)
c.372+3G>A (n.372+3G>A)
c.267+3G>A (n.267+3G>A)
n.631+3G>A
n.367+3G>A
n.849G>A
c.435+3G>A (n.435+3G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.19197624G=CA2326726748RFXANKc.438+3G= (n.438+3G=)
c.369+3G= (n.369+3G=)
c.372+3G= (n.372+3G=)
c.267+3G= (n.267+3G=)
n.631+3G=
n.367+3G=
n.849G=
c.435+3G= (n.435+3G=)
19g.19197625C=CA2326726749RFXANKc.438+4C= (n.438+4C=)
c.369+4C= (n.369+4C=)
c.372+4C= (n.372+4C=)
c.267+4C= (n.267+4C=)
n.631+4C=
n.367+4C=
n.850C=
c.435+4C= (n.435+4C=)
19g.19197625C>TCA9322741RFXANKc.438+4C>T (n.438+4C>T)
c.369+4C>T (n.369+4C>T)
c.372+4C>T (n.372+4C>T)
c.267+4C>T (n.267+4C>T)
n.631+4C>T
n.367+4C>T
n.850C>T
c.435+4C>T (n.435+4C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.19197626G>ACA632383167RFXANKc.438+5G>A (n.438+5G>A)
c.369+5G>A (n.369+5G>A)
c.372+5G>A (n.372+5G>A)
c.267+5G>A (n.267+5G>A)
n.631+5G>A
n.367+5G>A
n.851G>A
c.435+5G>A (n.435+5G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.19197626G>CCA2583682416RFXANKc.438+5G>C (n.438+5G>C)
c.369+5G>C (n.369+5G>C)
c.372+5G>C (n.372+5G>C)
c.267+5G>C (n.267+5G>C)
n.631+5G>C
n.367+5G>C
n.851G>C
c.435+5G>C (n.435+5G>C)
 gnomAD v4
19g.19197626G=CA2326726750RFXANKc.438+5G= (n.438+5G=)
c.369+5G= (n.369+5G=)
c.372+5G= (n.372+5G=)
c.267+5G= (n.267+5G=)
n.631+5G=
n.367+5G=
n.851G=
c.435+5G= (n.435+5G=)
19g.19197626G>TCA2573156231RFXANKc.438+5G>T (n.438+5G>T)
c.369+5G>T (n.369+5G>T)
c.372+5G>T (n.372+5G>T)
c.267+5G>T (n.267+5G>T)
n.631+5G>T
n.367+5G>T
n.851G>T
c.435+5G>T (n.435+5G>T)
 ClinVar dbSNP
19g.19197628C>GCA2583682417RFXANKc.438+7C>G (n.438+7C>G)
c.369+7C>G (n.369+7C>G)
c.372+7C>G (n.372+7C>G)
c.267+7C>G (n.267+7C>G)
n.631+7C>G
n.367+7C>G
n.853C>G
c.435+7C>G (n.435+7C>G)
 gnomAD v4
19g.19197629C=CA2326726751RFXANKc.438+8C= (n.438+8C=)
c.369+8C= (n.369+8C=)
c.372+8C= (n.372+8C=)
c.267+8C= (n.267+8C=)
n.631+8C=
n.367+8C=
n.854C=
c.435+8C= (n.435+8C=)
19g.19197629C>GCA9322742RFXANKc.438+8C>G (n.438+8C>G)
c.369+8C>G (n.369+8C>G)
c.372+8C>G (n.372+8C>G)
c.267+8C>G (n.267+8C>G)
n.631+8C>G
n.367+8C>G
n.854C>G
c.435+8C>G (n.435+8C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.19197629C>TCA2583682418RFXANKc.438+8C>T (n.438+8C>T)
c.369+8C>T (n.369+8C>T)
c.372+8C>T (n.372+8C>T)
c.267+8C>T (n.267+8C>T)
n.631+8C>T
n.367+8C>T
n.854C>T
c.435+8C>T (n.435+8C>T)
 gnomAD v4
19g.19197631A=CA2326726752RFXANKc.438+10A= (n.438+10A=)
c.369+10A= (n.369+10A=)
c.372+10A= (n.372+10A=)
c.267+10A= (n.267+10A=)
n.631+10A=
n.367+10A=
n.856A=
c.435+10A= (n.435+10A=)
19g.19197631A>GCA2326726753RFXANKc.438+10A>G (n.438+10A>G)
c.369+10A>G (n.369+10A>G)
c.372+10A>G (n.372+10A>G)
c.267+10A>G (n.267+10A>G)
n.631+10A>G
n.367+10A>G
n.856A>G
c.435+10A>G (n.435+10A>G)
 dbSNP gnomAD v4
19g.19197631A>TCA9322743RFXANKc.438+10A>T (n.438+10A>T)
c.369+10A>T (n.369+10A>T)
c.372+10A>T (n.372+10A>T)
c.267+10A>T (n.267+10A>T)
n.631+10A>T
n.367+10A>T
n.856A>T
c.435+10A>T (n.435+10A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.19197632G>ACA2583682421RFXANKc.438+11G>A (n.438+11G>A)
c.369+11G>A (n.369+11G>A)
c.372+11G>A (n.372+11G>A)
c.267+11G>A (n.267+11G>A)
n.631+11G>A
n.367+11G>A
n.857G>A
c.435+11G>A (n.435+11G>A)
 gnomAD v4
19g.19197632G>CCA2576729433RFXANKc.438+11G>C (n.438+11G>C)
c.369+11G>C (n.369+11G>C)
c.372+11G>C (n.372+11G>C)
c.267+11G>C (n.267+11G>C)
n.631+11G>C
n.367+11G>C
n.857G>C
c.435+11G>C (n.435+11G>C)
19g.19197632G>TCA2583682422RFXANKc.438+11G>T (n.438+11G>T)
c.369+11G>T (n.369+11G>T)
c.372+11G>T (n.372+11G>T)
c.267+11G>T (n.267+11G>T)
n.631+11G>T
n.367+11G>T
n.857G>T
c.435+11G>T (n.435+11G>T)
 gnomAD v4
19g.19197632_19197637delCA2583682420RFXANKc.438+11_438+16del (n.438+11_438+16del)
c.369+11_369+16del (n.369+11_369+16del)
c.372+11_372+16del (n.372+11_372+16del)
c.267+11_267+16del (n.267+11_267+16del)
n.631+11_631+16del
n.367+11_367+16del
n.857_862del
c.435+11_435+16del (n.435+11_435+16del)
 gnomAD v4
19g.19197633_19197640dupCA2583682419RFXANKc.438+12_438+19dup (n.438+12_438+19dup)
c.369+12_369+19dup (n.369+12_369+19dup)
c.372+12_372+19dup (n.372+12_372+19dup)
c.267+12_267+19dup (n.267+12_267+19dup)
n.631+12_631+19dup
n.367+12_367+19dup
n.858_865dup
c.435+12_435+19dup (n.435+12_435+19dup)
 gnomAD v4
19g.19197633C=CA2326726754RFXANKc.438+12C= (n.438+12C=)
c.369+12C= (n.369+12C=)
c.372+12C= (n.372+12C=)
c.267+12C= (n.267+12C=)
n.631+12C=
n.367+12C=
n.858C=
c.435+12C= (n.435+12C=)
19g.19197633C>TCA783977676RFXANKc.438+12C>T (n.438+12C>T)
c.369+12C>T (n.369+12C>T)
c.372+12C>T (n.372+12C>T)
c.267+12C>T (n.267+12C>T)
n.631+12C>T
n.367+12C>T
n.858C>T
c.435+12C>T (n.435+12C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.19197634C>ACA2573156232RFXANKc.438+13C>A (n.438+13C>A)
c.369+13C>A (n.369+13C>A)
c.372+13C>A (n.372+13C>A)
c.267+13C>A (n.267+13C>A)
n.631+13C>A
n.367+13C>A
n.859C>A
c.435+13C>A (n.435+13C>A)
 ClinVar dbSNP gnomAD v4
19g.19197634C=CA2326726755RFXANKc.438+13C= (n.438+13C=)
c.369+13C= (n.369+13C=)
c.372+13C= (n.372+13C=)
c.267+13C= (n.267+13C=)
n.631+13C=
n.367+13C=
n.859C=
c.435+13C= (n.435+13C=)
19g.19197634C>TCA9322744RFXANKc.438+13C>T (n.438+13C>T)
c.369+13C>T (n.369+13C>T)
c.372+13C>T (n.372+13C>T)
c.267+13C>T (n.267+13C>T)
n.631+13C>T
n.367+13C>T
n.859C>T
c.435+13C>T (n.435+13C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.19197636A=CA2326726756RFXANKc.438+15A= (n.438+15A=)
c.369+15A= (n.369+15A=)
c.372+15A= (n.372+15A=)
c.267+15A= (n.267+15A=)
n.631+15A=
n.367+15A=
n.861A=
c.435+15A= (n.435+15A=)
19g.19197636A>GCA2326726757RFXANKc.438+15A>G (n.438+15A>G)
c.369+15A>G (n.369+15A>G)
c.372+15A>G (n.372+15A>G)
c.267+15A>G (n.267+15A>G)
n.631+15A>G
n.367+15A>G
n.861A>G
c.435+15A>G (n.435+15A>G)
 dbSNP gnomAD v4
19g.19197636A>TCA2326726758RFXANKc.438+15A>T (n.438+15A>T)
c.369+15A>T (n.369+15A>T)
c.372+15A>T (n.372+15A>T)
c.267+15A>T (n.267+15A>T)
n.631+15A>T
n.367+15A>T
n.861A>T
c.435+15A>T (n.435+15A>T)
 dbSNP
19g.19197637G>TCA2572124701RFXANKc.438+16G>T (n.438+16G>T)
c.369+16G>T (n.369+16G>T)
c.372+16G>T (n.372+16G>T)
c.267+16G>T (n.267+16G>T)
n.631+16G>T
n.367+16G>T
n.862G>T
c.435+16G>T (n.435+16G>T)
19g.19197639T>CCA2583682423RFXANKc.438+18T>C (n.438+18T>C)
c.369+18T>C (n.369+18T>C)
c.372+18T>C (n.372+18T>C)
c.267+18T>C (n.267+18T>C)
n.631+18T>C
n.367+18T>C
n.864T>C
c.435+18T>C (n.435+18T>C)
 gnomAD v4
19g.19197640G>ACA994287558RFXANKc.438+19G>A (n.438+19G>A)
c.369+19G>A (n.369+19G>A)
c.372+19G>A (n.372+19G>A)
c.267+19G>A (n.267+19G>A)
n.631+19G>A
n.367+19G>A
n.865G>A
c.435+19G>A (n.435+19G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.19197640G=CA2326726759RFXANKc.438+19G= (n.438+19G=)
c.369+19G= (n.369+19G=)
c.372+19G= (n.372+19G=)
c.267+19G= (n.267+19G=)
n.631+19G=
n.367+19G=
n.865G=
c.435+19G= (n.435+19G=)
19g.19197640G>TCA2583682424RFXANKc.438+19G>T (n.438+19G>T)
c.369+19G>T (n.369+19G>T)
c.372+19G>T (n.372+19G>T)
c.267+19G>T (n.267+19G>T)
n.631+19G>T
n.367+19G>T
n.865G>T
c.435+19G>T (n.435+19G>T)
 gnomAD v4
19g.19197641G>CCA2576729434RFXANKc.438+20G>C (n.438+20G>C)
c.369+20G>C (n.369+20G>C)
c.372+20G>C (n.372+20G>C)
c.267+20G>C (n.267+20G>C)
n.631+20G>C
n.367+20G>C
n.866G>C
c.435+20G>C (n.435+20G>C)
19g.19197642G>CCA2576729435RFXANKc.438+21G>C (n.438+21G>C)
c.369+21G>C (n.369+21G>C)
c.372+21G>C (n.372+21G>C)
c.267+21G>C (n.267+21G>C)
n.631+21G>C
n.367+21G>C
n.867G>C
c.435+21G>C (n.435+21G>C)
19g.19197643C>ACA2583682425RFXANKc.438+22C>A (n.438+22C>A)
c.369+22C>A (n.369+22C>A)
c.372+22C>A (n.372+22C>A)
c.267+22C>A (n.267+22C>A)
n.631+22C>A
n.367+22C>A
n.868C>A
c.435+22C>A (n.435+22C>A)
 gnomAD v4
19g.19197645G>ACA2583682427RFXANKc.438+24G>A (n.438+24G>A)
c.369+24G>A (n.369+24G>A)
c.372+24G>A (n.372+24G>A)
c.267+24G>A (n.267+24G>A)
n.631+24G>A
n.367+24G>A
n.870G>A
c.435+24G>A (n.435+24G>A)
 gnomAD v4
19g.19197645G>TCA2583682426RFXANKc.438+24G>T (n.438+24G>T)
c.369+24G>T (n.369+24G>T)
c.372+24G>T (n.372+24G>T)
c.267+24G>T (n.267+24G>T)
n.631+24G>T
n.367+24G>T
n.870G>T
c.435+24G>T (n.435+24G>T)
 gnomAD v4

Number of alleles fetched