Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.60816369A=CA1788137332CHD7c.2499-18A= (n.2499-18A=)
c.1716+35319A= (n.1716+35319A=)
c.486-18A= (n.486-18A=)
c.36-18A= (n.36-18A=)
8g.60816369A>GCA581976559CHD7c.2499-18A>G (n.2499-18A>G)
c.1716+35319A>G (n.1716+35319A>G)
c.486-18A>G (n.486-18A>G)
c.36-18A>G (n.36-18A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.60816369dupCA2687396737CHD7c.2499-18dup (n.2499-18dup)
c.1716+35319dup (n.1716+35319dup)
c.486-18dup (n.486-18dup)
c.36-18dup (n.36-18dup)
 gnomAD v4
8g.60816370T>CCA2580078439CHD7c.2499-17T>C (n.2499-17T>C)
c.1716+35320T>C (n.1716+35320T>C)
c.486-17T>C (n.486-17T>C)
c.36-17T>C (n.36-17T>C)
 ClinVar
8g.60816371T>CCA2687396738CHD7c.2499-16T>C (n.2499-16T>C)
c.1716+35321T>C (n.1716+35321T>C)
c.486-16T>C (n.486-16T>C)
c.36-16T>C (n.36-16T>C)
 gnomAD v4
8g.60816372G>ACA2548123417CHD7c.2499-15G>A (n.2499-15G>A)
c.1716+35322G>A (n.1716+35322G>A)
c.486-15G>A (n.486-15G>A)
c.36-15G>A (n.36-15G>A)
8g.60816372_60816373delinsGTCA1788137333CHD7c.2499-15_2499-14delinsGT (n.2499-15_2499-14delinsGT)
c.1716+35322_1716+35323delinsGT (n.1716+35322_1716+35323delinsGT)
c.486-15_486-14delinsGT (n.486-15_486-14delinsGT)
c.36-15_36-14delinsGT (n.36-15_36-14delinsGT)
8g.60816376delCA4759744CHD7c.2499-11del (n.2499-11del)
c.1716+35326del (n.1716+35326del)
c.486-11del (n.486-11del)
c.36-11del (n.36-11del)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60816375T>CCA2687396739CHD7c.2499-12T>C (n.2499-12T>C)
c.1716+35325T>C (n.1716+35325T>C)
c.486-12T>C (n.486-12T>C)
c.36-12T>C (n.36-12T>C)
 gnomAD v4
8g.60816375T>GCA2579173428CHD7c.2499-12T>G (n.2499-12T>G)
c.1716+35325T>G (n.1716+35325T>G)
c.486-12T>G (n.486-12T>G)
c.36-12T>G (n.36-12T>G)
8g.60816376T>ACA2573053037CHD7c.2499-11T>A (n.2499-11T>A)
c.1716+35326T>A (n.1716+35326T>A)
c.486-11T>A (n.486-11T>A)
c.36-11T>A (n.36-11T>A)
 ClinVar dbSNP gnomAD v4
8g.60816376T>CCA2687396740CHD7c.2499-11T>C (n.2499-11T>C)
c.1716+35326T>C (n.1716+35326T>C)
c.486-11T>C (n.486-11T>C)
c.36-11T>C (n.36-11T>C)
 gnomAD v4
8g.60816377G>ACA581976563CHD7c.2499-10G>A (n.2499-10G>A)
c.1716+35327G>A (n.1716+35327G>A)
c.486-10G>A (n.486-10G>A)
c.36-10G>A (n.36-10G>A)
 dbSNP gnomAD v2 gnomAD v4
8g.60816377G>CCA581976564CHD7c.2499-10G>C (n.2499-10G>C)
c.1716+35327G>C (n.1716+35327G>C)
c.486-10G>C (n.486-10G>C)
c.36-10G>C (n.36-10G>C)
 dbSNP gnomAD v2
8g.60816377G=CA1788137338CHD7c.2499-10G= (n.2499-10G=)
c.1716+35327G= (n.1716+35327G=)
c.486-10G= (n.486-10G=)
c.36-10G= (n.36-10G=)
8g.60816377G>TCA1788137339CHD7c.2499-10G>T (n.2499-10G>T)
c.1716+35327G>T (n.1716+35327G>T)
c.486-10G>T (n.486-10G>T)
c.36-10G>T (n.36-10G>T)
 ClinVar dbSNP gnomAD v4
8g.60816378T>CCA4759745CHD7c.2499-9T>C (n.2499-9T>C)
c.1716+35328T>C (n.1716+35328T>C)
c.486-9T>C (n.486-9T>C)
c.36-9T>C (n.36-9T>C)
 dbSNP ExAC gnomAD v2
8g.60816378T=CA1788137343CHD7c.2499-9T= (n.2499-9T=)
c.1716+35328T= (n.1716+35328T=)
c.486-9T= (n.486-9T=)
c.36-9T= (n.36-9T=)
8g.60816379T>CCA2687396741CHD7c.2499-8T>C (n.2499-8T>C)
c.1716+35329T>C (n.1716+35329T>C)
c.486-8T>C (n.486-8T>C)
c.36-8T>C (n.36-8T>C)
 gnomAD v4
8g.60816380C>ACA2579173429CHD7c.2499-7C>A (n.2499-7C>A)
c.1716+35330C>A (n.1716+35330C>A)
c.486-7C>A (n.486-7C>A)
c.36-7C>A (n.36-7C>A)
 gnomAD v4
8g.60816380C>GCA2687396742CHD7c.2499-7C>G (n.2499-7C>G)
c.1716+35330C>G (n.1716+35330C>G)
c.486-7C>G (n.486-7C>G)
c.36-7C>G (n.36-7C>G)
 gnomAD v4
8g.60816380C>TCA2579173430CHD7c.2499-7C>T (n.2499-7C>T)
c.1716+35330C>T (n.1716+35330C>T)
c.486-7C>T (n.486-7C>T)
c.36-7C>T (n.36-7C>T)
 dbSNP gnomAD v4
8g.60816381T>CCA1788137347CHD7c.2499-6T>C (n.2499-6T>C)
c.1716+35331T>C (n.1716+35331T>C)
c.486-6T>C (n.486-6T>C)
c.36-6T>C (n.36-6T>C)
 dbSNP gnomAD v4
8g.60816381T=CA1788137345CHD7c.2499-6T= (n.2499-6T=)
c.1716+35331T= (n.1716+35331T=)
c.486-6T= (n.486-6T=)
c.36-6T= (n.36-6T=)
8g.60816383delCA2687396743CHD7c.2499-4del (n.2499-4del)
c.1716+35333del (n.1716+35333del)
c.486-4del (n.486-4del)
c.36-4del (n.36-4del)
 gnomAD v4
8g.60816383T>GCA581976566CHD7c.2499-4T>G (n.2499-4T>G)
c.1716+35333T>G (n.1716+35333T>G)
c.486-4T>G (n.486-4T>G)
c.36-4T>G (n.36-4T>G)
 dbSNP gnomAD v2 gnomAD v4
8g.60816383T=CA1788137349CHD7c.2499-4T= (n.2499-4T=)
c.1716+35333T= (n.1716+35333T=)
c.486-4T= (n.486-4T=)
c.36-4T= (n.36-4T=)
8g.60816384C>ACA2579173431CHD7c.2499-3C>A (n.2499-3C>A)
c.1716+35334C>A (n.1716+35334C>A)
c.486-3C>A (n.486-3C>A)
c.36-3C>A (n.36-3C>A)
 gnomAD v4
8g.60816384C>TCA2550138088CHD7c.2499-3C>T (n.2499-3C>T)
c.1716+35334C>T (n.1716+35334C>T)
c.486-3C>T (n.486-3C>T)
c.36-3C>T (n.36-3C>T)
 gnomAD v4
8g.60816385A>CCA371305929CHD7c.2499-2A>C (n.2499-2A>C)
c.1716+35335A>C (n.1716+35335A>C)
c.486-2A>C (n.486-2A>C)
c.36-2A>C (n.36-2A>C)
8g.60816385A>GCA371305931CHD7c.2499-2A>G (n.2499-2A>G)
c.1716+35335A>G (n.1716+35335A>G)
c.486-2A>G (n.486-2A>G)
c.36-2A>G (n.36-2A>G)
 gnomAD v4
8g.60816385A>TCA371305933CHD7c.2499-2A>T (n.2499-2A>T)
c.1716+35335A>T (n.1716+35335A>T)
c.486-2A>T (n.486-2A>T)
c.36-2A>T (n.36-2A>T)
8g.60816386G>ACA371305935CHD7c.2499-1G>A (n.2499-1G>A)
c.1716+35336G>A (n.1716+35336G>A)
c.486-1G>A (n.486-1G>A)
c.36-1G>A (n.36-1G>A)
 gnomAD v4
8g.60816386G>CCA371305937CHD7c.2499-1G>C (n.2499-1G>C)
c.1716+35336G>C (n.1716+35336G>C)
c.486-1G>C (n.486-1G>C)
c.36-1G>C (n.36-1G>C)
8g.60816386G>TCA371305939CHD7c.2499-1G>T (n.2499-1G>T)
c.1716+35336G>T (n.1716+35336G>T)
c.486-1G>T (n.486-1G>T)
c.36-1G>T (n.36-1G>T)
8g.60816387C>ACA371305941CHD7c.2499C>A (p.Phe833Leu)
c.1716+35337C>A (n.1716+35337C>A)
c.486C>A (p.Phe162Leu)
c.36C>A (p.Cys12Ter)
 gnomAD v4
8g.60816387C=CA1788137351CHD7c.2499C= (p.Phe833=)
c.1716+35337C= (n.1716+35337C=)
c.486C= (p.Phe162=)
c.36C= (p.Cys12=)
8g.60816387C>GCA371305943CHD7c.2499C>G (p.Phe833Leu)
c.1716+35337C>G (n.1716+35337C>G)
c.486C>G (p.Phe162Leu)
c.36C>G (p.Cys12Trp)
8g.60816387C>TCA460845332CHD7c.2499C>T (p.Phe833=)
c.1716+35337C>T (n.1716+35337C>T)
c.486C>T (p.Phe162=)
c.36C>T (p.Cys12=)
 gnomAD v4
8g.60816387_60816392delinsCTCTTACA1788137352CHD7c.2499_2504delinsCTCTTA (p.Phe833=)
c.1716+35337_1716+35342delinsCTCTTA (n.1716+35337_1716+35342delinsCTCTTA)
c.486_491delinsCTCTTA (p.Phe162=)
c.36_41delinsCTCTTA (p.Cys12=)
8g.60816388T>ACA371305955CHD7c.2500T>A (p.Ser834Thr)
c.1716+35338T>A (n.1716+35338T>A)
c.487T>A (p.Ser163Thr)
c.37T>A (p.Ser13Thr)
8g.60816388T>CCA371305956CHD7c.2500T>C (p.Ser834Pro)
c.1716+35338T>C (n.1716+35338T>C)
c.487T>C (p.Ser163Pro)
c.37T>C (p.Ser13Pro)
 dbSNP gnomAD v4
8g.60816388T>GCA371305950CHD7c.2500T>G (p.Ser834Ala)
c.1716+35338T>G (n.1716+35338T>G)
c.487T>G (p.Ser163Ala)
c.37T>G (p.Ser13Ala)
8g.60816388T=CA1788137366CHD7c.2500T= (p.Ser834=)
c.1716+35338T= (n.1716+35338T=)
c.487T= (p.Ser163=)
c.37T= (p.Ser13=)
8g.60816392_60816396delCA10602487CHD7c.2504_2508del (p.Tyr835SerfsTer14)
c.1716+35342_1716+35346del (n.1716+35342_1716+35346del)
c.491_495del (p.Tyr164SerfsTer14)
c.41_45del (p.Tyr14SerfsTer14)
 ClinVar dbSNP
8g.60816390_60816397dupCA277181CHD7c.2502_2509dup (p.His837LeufsTer10)
c.1716+35340_1716+35347dup (n.1716+35340_1716+35347dup)
c.489_496dup (p.His166LeufsTer10)
c.39_46dup (p.His16LeufsTer10)
 ClinVar dbSNP
8g.60816389C>ACA371305959CHD7c.2501C>A (p.Ser834Tyr)
c.1716+35339C>A (n.1716+35339C>A)
c.488C>A (p.Ser163Tyr)
c.38C>A (p.Ser13Tyr)
8g.60816389C=CA1788137373CHD7c.2501C= (p.Ser834=)
c.1716+35339C= (n.1716+35339C=)
c.488C= (p.Ser163=)
c.38C= (p.Ser13=)
8g.60816389C>GCA371305961CHD7c.2501C>G (p.Ser834Cys)
c.1716+35339C>G (n.1716+35339C>G)
c.488C>G (p.Ser163Cys)
c.38C>G (p.Ser13Cys)
 gnomAD v4
8g.60816389C>TCA130114CHD7c.2501C>T (p.Ser834Phe)
c.1716+35339C>T (n.1716+35339C>T)
c.488C>T (p.Ser163Phe)
c.38C>T (p.Ser13Phe)
 ClinVar dbSNP
8g.60816390T>ACA460845335CHD7c.2502T>A (p.Ser834=)
c.1716+35340T>A (n.1716+35340T>A)
c.489T>A (p.Ser163=)
c.39T>A (p.Ser13=)
 gnomAD v4
8g.60816390T>CCA460845334CHD7c.2502T>C (p.Ser834=)
c.1716+35340T>C (n.1716+35340T>C)
c.489T>C (p.Ser163=)
c.39T>C (p.Ser13=)
 gnomAD v4
8g.60816390T>GCA460845333CHD7c.2502T>G (p.Ser834=)
c.1716+35340T>G (n.1716+35340T>G)
c.489T>G (p.Ser163=)
c.39T>G (p.Ser13=)
8g.60816391dupCA2580078441CHD7c.2503dup (p.Tyr835LeufsTer16)
c.1716+35341dup (n.1716+35341dup)
c.490dup (p.Tyr164LeufsTer16)
c.40dup (p.Tyr14LeufsTer16)
 ClinVar
8g.60816391delCA2687396744CHD7c.2503del (p.Tyr835IlefsTer9)
c.1716+35341del (n.1716+35341del)
c.490del (p.Tyr164IlefsTer9)
c.40del (p.Tyr14IlefsTer9)
 gnomAD v4
8g.60816391T>ACA371305962CHD7c.2503T>A (p.Tyr835Asn)
c.1716+35341T>A (n.1716+35341T>A)
c.490T>A (p.Tyr164Asn)
c.40T>A (p.Tyr14Asn)
8g.60816391T>CCA4759746CHD7c.2503T>C (p.Tyr835His)
c.1716+35341T>C (n.1716+35341T>C)
c.490T>C (p.Tyr164His)
c.40T>C (p.Tyr14His)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60816391T>GCA371305964CHD7c.2503T>G (p.Tyr835Asp)
c.1716+35341T>G (n.1716+35341T>G)
c.490T>G (p.Tyr164Asp)
c.40T>G (p.Tyr14Asp)
8g.60816391T=CA1788137381CHD7c.2503T= (p.Tyr835=)
c.1716+35341T= (n.1716+35341T=)
c.490T= (p.Tyr164=)
c.40T= (p.Tyr14=)
8g.60816392A>CCA371305966CHD7c.2504A>C (p.Tyr835Ser)
c.1716+35342A>C (n.1716+35342A>C)
c.491A>C (p.Tyr164Ser)
c.41A>C (p.Tyr14Ser)
8g.60816392A>GCA371305968CHD7c.2504A>G (p.Tyr835Cys)
c.1716+35342A>G (n.1716+35342A>G)
c.491A>G (p.Tyr164Cys)
c.41A>G (p.Tyr14Cys)
8g.60816392A>TCA371305969CHD7c.2504A>T (p.Tyr835Phe)
c.1716+35342A>T (n.1716+35342A>T)
c.491A>T (p.Tyr164Phe)
c.41A>T (p.Tyr14Phe)
8g.60816393T>ACA371305971CHD7c.2505T>A (p.Tyr835Ter)
c.1716+35343T>A (n.1716+35343T>A)
c.492T>A (p.Tyr164Ter)
c.42T>A (p.Tyr14Ter)
 gnomAD v4
8g.60816393T>CCA4759747CHD7c.2505T>C (p.Tyr835=)
c.1716+35343T>C (n.1716+35343T>C)
c.492T>C (p.Tyr164=)
c.42T>C (p.Tyr14=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60816393T>GCA371305973CHD7c.2505T>G (p.Tyr835Ter)
c.1716+35343T>G (n.1716+35343T>G)
c.492T>G (p.Tyr164Ter)
c.42T>G (p.Tyr14Ter)
8g.60816393T=CA1788137385CHD7c.2505T= (p.Tyr835=)
c.1716+35343T= (n.1716+35343T=)
c.492T= (p.Tyr164=)
c.42T= (p.Tyr14=)
8g.60816394C>ACA371305975CHD7c.2506C>A (p.Leu836Ile)
c.1716+35344C>A (n.1716+35344C>A)
c.493C>A (p.Leu165Ile)
c.43C>A (p.Leu15Ile)
 gnomAD v4
8g.60816394C=CA1788137388CHD7c.2506C= (p.Leu836=)
c.1716+35344C= (n.1716+35344C=)
c.493C= (p.Leu165=)
c.43C= (p.Leu15=)
8g.60816394C>GCA371305977CHD7c.2506C>G (p.Leu836Val)
c.1716+35344C>G (n.1716+35344C>G)
c.493C>G (p.Leu165Val)
c.43C>G (p.Leu15Val)
8g.60816394C>TCA4759748CHD7c.2506C>T (p.Leu836Phe)
c.1716+35344C>T (n.1716+35344C>T)
c.493C>T (p.Leu165Phe)
c.43C>T (p.Leu15Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60816395T>ACA371305980CHD7c.2507T>A (p.Leu836His)
c.1716+35345T>A (n.1716+35345T>A)
c.494T>A (p.Leu165His)
c.44T>A (p.Leu15His)
8g.60816395T>CCA371305983CHD7c.2507T>C (p.Leu836Pro)
c.1716+35345T>C (n.1716+35345T>C)
c.494T>C (p.Leu165Pro)
c.44T>C (p.Leu15Pro)
 gnomAD v4
8g.60816395T>GCA371305981CHD7c.2507T>G (p.Leu836Arg)
c.1716+35345T>G (n.1716+35345T>G)
c.494T>G (p.Leu165Arg)
c.44T>G (p.Leu15Arg)
 dbSNP
8g.60816395T=CA1788137396CHD7c.2507T= (p.Leu836=)
c.1716+35345T= (n.1716+35345T=)
c.494T= (p.Leu165=)
c.44T= (p.Leu15=)
8g.60816397_60816400delCA2695209616CHD7c.2509_2512del (p.His837ValfsTer6)
c.1716+35347_1716+35350del (n.1716+35347_1716+35350del)
c.496_499del (p.His166ValfsTer6)
c.46_49del (p.His16ValfsTer6)
8g.60816396T>ACA460845336CHD7c.2508T>A (p.Leu836=)
c.1716+35346T>A (n.1716+35346T>A)
c.495T>A (p.Leu165=)
c.45T>A (p.Leu15=)
8g.60816396T>CCA460845337CHD7c.2508T>C (p.Leu836=)
c.1716+35346T>C (n.1716+35346T>C)
c.495T>C (p.Leu165=)
c.45T>C (p.Leu15=)
8g.60816396T>GCA460845338CHD7c.2508T>G (p.Leu836=)
c.1716+35346T>G (n.1716+35346T>G)
c.495T>G (p.Leu165=)
c.45T>G (p.Leu15=)
8g.60816397C>ACA371305985CHD7c.2509C>A (p.His837Asn)
c.1716+35347C>A (n.1716+35347C>A)
c.496C>A (p.His166Asn)
c.46C>A (p.His16Asn)
 gnomAD v4
8g.60816397C>GCA371305987CHD7c.2509C>G (p.His837Asp)
c.1716+35347C>G (n.1716+35347C>G)
c.496C>G (p.His166Asp)
c.46C>G (p.His16Asp)
8g.60816397C>TCA371305988CHD7c.2509C>T (p.His837Tyr)
c.1716+35347C>T (n.1716+35347C>T)
c.496C>T (p.His166Tyr)
c.46C>T (p.His16Tyr)
 gnomAD v4
8g.60816398A=CA1788137399CHD7c.2510A= (p.His837=)
c.1716+35348A= (n.1716+35348A=)
c.497A= (p.His166=)
c.47A= (p.His16=)
8g.60816398A>CCA371305990CHD7c.2510A>C (p.His837Pro)
c.1716+35348A>C (n.1716+35348A>C)
c.497A>C (p.His166Pro)
c.47A>C (p.His16Pro)
8g.60816398A>GCA4759749CHD7c.2510A>G (p.His837Arg)
c.1716+35348A>G (n.1716+35348A>G)
c.497A>G (p.His166Arg)
c.47A>G (p.His16Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.60816398A>TCA371305994CHD7c.2510A>T (p.His837Leu)
c.1716+35348A>T (n.1716+35348A>T)
c.497A>T (p.His166Leu)
c.47A>T (p.His16Leu)
8g.60816399T>ACA371305995CHD7c.2511T>A (p.His837Gln)
c.1716+35349T>A (n.1716+35349T>A)
c.498T>A (p.His166Gln)
c.48T>A (p.His16Gln)
8g.60816399T>CCA460845339CHD7c.2511T>C (p.His837=)
c.1716+35349T>C (n.1716+35349T>C)
c.498T>C (p.His166=)
c.48T>C (p.His16=)
8g.60816399T>GCA371305996CHD7c.2511T>G (p.His837Gln)
c.1716+35349T>G (n.1716+35349T>G)
c.498T>G (p.His166Gln)
c.48T>G (p.His16Gln)
8g.60816400T>ACA371305997CHD7c.2512T>A (p.Cys838Ser)
c.1716+35350T>A (n.1716+35350T>A)
c.499T>A (p.Cys167Ser)
c.49T>A (p.Cys17Ser)
 COSMIC
8g.60816400T>CCA371305998CHD7c.2512T>C (p.Cys838Arg)
c.1716+35350T>C (n.1716+35350T>C)
c.499T>C (p.Cys167Arg)
c.49T>C (p.Cys17Arg)
 gnomAD v4
8g.60816400T>GCA371305999CHD7c.2512T>G (p.Cys838Gly)
c.1716+35350T>G (n.1716+35350T>G)
c.499T>G (p.Cys167Gly)
c.49T>G (p.Cys17Gly)
8g.60816401G>ACA371306003CHD7c.2513G>A (p.Cys838Tyr)
c.1716+35351G>A (n.1716+35351G>A)
c.500G>A (p.Cys167Tyr)
c.50G>A (p.Cys17Tyr)
8g.60816401G>CCA371306004CHD7c.2513G>C (p.Cys838Ser)
c.1716+35351G>C (n.1716+35351G>C)
c.500G>C (p.Cys167Ser)
c.50G>C (p.Cys17Ser)
8g.60816401G>TCA371306001CHD7c.2513G>T (p.Cys838Phe)
c.1716+35351G>T (n.1716+35351G>T)
c.500G>T (p.Cys167Phe)
c.50G>T (p.Cys17Phe)
8g.60816402T>ACA371306006CHD7c.2514T>A (p.Cys838Ter)
c.1716+35352T>A (n.1716+35352T>A)
c.501T>A (p.Cys167Ter)
c.51T>A (p.Cys17Ter)
8g.60816402T>CCA460845340CHD7c.2514T>C (p.Cys838=)
c.1716+35352T>C (n.1716+35352T>C)
c.501T>C (p.Cys167=)
c.51T>C (p.Cys17=)
8g.60816402T>GCA371306008CHD7c.2514T>G (p.Cys838Trp)
c.1716+35352T>G (n.1716+35352T>G)
c.501T>G (p.Cys167Trp)
c.51T>G (p.Cys17Trp)
8g.60816403C>ACA371306009CHD7c.2515C>A (p.Gln839Lys)
c.1716+35353C>A (n.1716+35353C>A)
c.502C>A (p.Gln168Lys)
c.52C>A (p.Gln18Lys)
 gnomAD v4
8g.60816403C>GCA371306010CHD7c.2515C>G (p.Gln839Glu)
c.1716+35353C>G (n.1716+35353C>G)
c.502C>G (p.Gln168Glu)
c.52C>G (p.Gln18Glu)
8g.60816403C>TCA371306014CHD7c.2515C>T (p.Gln839Ter)
c.1716+35353C>T (n.1716+35353C>T)
c.502C>T (p.Gln168Ter)
c.52C>T (p.Gln18Ter)
 gnomAD v4
8g.60816404A>CCA371306016CHD7c.2516A>C (p.Gln839Pro)
c.1716+35354A>C (n.1716+35354A>C)
c.503A>C (p.Gln168Pro)
c.53A>C (p.Gln18Pro)
8g.60816404A>GCA371306018CHD7c.2516A>G (p.Gln839Arg)
c.1716+35354A>G (n.1716+35354A>G)
c.503A>G (p.Gln168Arg)
c.53A>G (p.Gln18Arg)
 ClinVar dbSNP gnomAD v4
8g.60816404A>TCA371306019CHD7c.2516A>T (p.Gln839Leu)
c.1716+35354A>T (n.1716+35354A>T)
c.503A>T (p.Gln168Leu)
c.53A>T (p.Gln18Leu)
8g.60816404_60816406delCA2695209617CHD7c.2516_2518del (p.Gln839_Trp840delinsArg)
c.1716+35354_1716+35356del (n.1716+35354_1716+35356del)
c.503_505del (p.Gln168_Trp169delinsArg)
c.53_55del (p.Gln18_Trp19delinsArg)
8g.60816405delCA2695209618CHD7c.2517del (p.Gln839HisfsTer5)
c.1716+35355del (n.1716+35355del)
c.504del (p.Gln168HisfsTer5)
c.54del (p.Gln18HisfsTer5)
8g.60816405G>ACA460845341CHD7c.2517G>A (p.Gln839=)
c.1716+35355G>A (n.1716+35355G>A)
c.504G>A (p.Gln168=)
c.54G>A (p.Gln18=)
 dbSNP gnomAD v2 gnomAD v4
8g.60816405G>CCA371306021CHD7c.2517G>C (p.Gln839His)
c.1716+35355G>C (n.1716+35355G>C)
c.504G>C (p.Gln168His)
c.54G>C (p.Gln18His)
8g.60816405G=CA1788137405CHD7c.2517G= (p.Gln839=)
c.1716+35355G= (n.1716+35355G=)
c.504G= (p.Gln168=)
c.54G= (p.Gln18=)
8g.60816405G>TCA371306022CHD7c.2517G>T (p.Gln839His)
c.1716+35355G>T (n.1716+35355G>T)
c.504G>T (p.Gln168His)
c.54G>T (p.Gln18His)
8g.60816406T>ACA371306024CHD7c.2518T>A (p.Trp840Arg)
c.1716+35356T>A (n.1716+35356T>A)
c.505T>A (p.Trp169Arg)
c.55T>A (p.Trp19Arg)
8g.60816406T>CCA371306029CHD7c.2518T>C (p.Trp840Arg)
c.1716+35356T>C (n.1716+35356T>C)
c.505T>C (p.Trp169Arg)
c.55T>C (p.Trp19Arg)
8g.60816406T>GCA371306033CHD7c.2518T>G (p.Trp840Gly)
c.1716+35356T>G (n.1716+35356T>G)
c.505T>G (p.Trp169Gly)
c.55T>G (p.Trp19Gly)
8g.60816407G>ACA371306038CHD7c.2519G>A (p.Trp840Ter)
c.1716+35357G>A (n.1716+35357G>A)
c.506G>A (p.Trp169Ter)
c.56G>A (p.Trp19Ter)
 gnomAD v4
8g.60816407G>CCA371306039CHD7c.2519G>C (p.Trp840Ser)
c.1716+35357G>C (n.1716+35357G>C)
c.506G>C (p.Trp169Ser)
c.56G>C (p.Trp19Ser)
8g.60816407G>TCA371306036CHD7c.2519G>T (p.Trp840Leu)
c.1716+35357G>T (n.1716+35357G>T)
c.506G>T (p.Trp169Leu)
c.56G>T (p.Trp19Leu)
 gnomAD v4
8g.60816409delCA2579173432CHD7c.2521del (p.Ala841HisfsTer3)
c.1716+35359del (n.1716+35359del)
c.508del (p.Ala170HisfsTer3)
c.58del (p.Ala20HisfsTer3)
 gnomAD v4
8g.60816408G>ACA371306042CHD7c.2520G>A (p.Trp840Ter)
c.1716+35358G>A (n.1716+35358G>A)
c.507G>A (p.Trp169Ter)
c.57G>A (p.Trp19Ter)
 ClinVar dbSNP
8g.60816408G>CCA371306043CHD7c.2520G>C (p.Trp840Cys)
c.1716+35358G>C (n.1716+35358G>C)
c.507G>C (p.Trp169Cys)
c.57G>C (p.Trp19Cys)
8g.60816408G=CA1788137417CHD7c.2520G= (p.Trp840=)
c.1716+35358G= (n.1716+35358G=)
c.507G= (p.Trp169=)
c.57G= (p.Trp19=)
8g.60816408G>TCA371306045CHD7c.2520G>T (p.Trp840Cys)
c.1716+35358G>T (n.1716+35358G>T)
c.507G>T (p.Trp169Cys)
c.57G>T (p.Trp19Cys)
 gnomAD v4
8g.60816408_60816409delinsGGCA1788137414CHD7c.2520_2521delinsGG (p.Trp840=)
c.1716+35358_1716+35359delinsGG (n.1716+35358_1716+35359delinsGG)
c.507_508delinsGG (p.Trp169=)
c.57_58delinsGG (p.Trp19=)
8g.60816408_60816409delinsTCCA891843172CHD7c.2520_2521delinsTC (p.Trp840_Ala841delinsCysPro)
c.1716+35358_1716+35359delinsTC (n.1716+35358_1716+35359delinsTC)
c.507_508delinsTC (p.Trp169_Ala170delinsCysPro)
c.57_58delinsTC (p.Trp19_Ala20delinsCysPro)
 ClinVar dbSNP
8g.60816409G>ACA4759750CHD7c.2521G>A (p.Ala841Thr)
c.1716+35359G>A (n.1716+35359G>A)
c.508G>A (p.Ala170Thr)
c.58G>A (p.Ala20Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.60816409G>CCA371306048CHD7c.2521G>C (p.Ala841Pro)
c.1716+35359G>C (n.1716+35359G>C)
c.508G>C (p.Ala170Pro)
c.58G>C (p.Ala20Pro)
8g.60816409G=CA1788137425CHD7c.2521G= (p.Ala841=)
c.1716+35359G= (n.1716+35359G=)
c.508G= (p.Ala170=)
c.58G= (p.Ala20=)
8g.60816409G>TCA371306049CHD7c.2521G>T (p.Ala841Ser)
c.1716+35359G>T (n.1716+35359G>T)
c.508G>T (p.Ala170Ser)
c.58G>T (p.Ala20Ser)
 gnomAD v4
8g.60816410C>ACA371306054CHD7c.2522C>A (p.Ala841Glu)
c.1716+35360C>A (n.1716+35360C>A)
c.509C>A (p.Ala170Glu)
c.59C>A (p.Ala20Glu)
 gnomAD v4
8g.60816410C=CA1788137427CHD7c.2522C= (p.Ala841=)
c.1716+35360C= (n.1716+35360C=)
c.509C= (p.Ala170=)
c.59C= (p.Ala20=)
8g.60816410C>GCA371306051CHD7c.2522C>G (p.Ala841Gly)
c.1716+35360C>G (n.1716+35360C>G)
c.509C>G (p.Ala170Gly)
c.59C>G (p.Ala20Gly)
8g.60816410C>TCA177326571CHD7c.2522C>T (p.Ala841Val)
c.1716+35360C>T (n.1716+35360C>T)
c.509C>T (p.Ala170Val)
c.59C>T (p.Ala20Val)
 dbSNP gnomAD v4
8g.60816411A=CA1788137429CHD7c.2523A= (p.Ala841=)
c.1716+35361A= (n.1716+35361A=)
c.510A= (p.Ala170=)
c.60A= (p.Ala20=)
8g.60816411A>CCA460845342CHD7c.2523A>C (p.Ala841=)
c.1716+35361A>C (n.1716+35361A>C)
c.510A>C (p.Ala170=)
c.60A>C (p.Ala20=)
8g.60816411A>GCA177326576CHD7c.2523A>G (p.Ala841=)
c.1716+35361A>G (n.1716+35361A>G)
c.510A>G (p.Ala170=)
c.60A>G (p.Ala20=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60816411A>TCA460845343CHD7c.2523A>T (p.Ala841=)
c.1716+35361A>T (n.1716+35361A>T)
c.510A>T (p.Ala170=)
c.60A>T (p.Ala20=)
8g.60816412T>ACA371306061CHD7c.2524T>A (p.Ser842Thr)
c.1716+35362T>A (n.1716+35362T>A)
c.511T>A (p.Ser171Thr)
c.61T>A (p.Ser21Thr)
8g.60816412T>CCA371306062CHD7c.2524T>C (p.Ser842Pro)
c.1716+35362T>C (n.1716+35362T>C)
c.511T>C (p.Ser171Pro)
c.61T>C (p.Ser21Pro)
 dbSNP gnomAD v2 gnomAD v4
8g.60816412T>GCA371306063CHD7c.2524T>G (p.Ser842Ala)
c.1716+35362T>G (n.1716+35362T>G)
c.511T>G (p.Ser171Ala)
c.61T>G (p.Ser21Ala)
8g.60816412T=CA1788137433CHD7c.2524T= (p.Ser842=)
c.1716+35362T= (n.1716+35362T=)
c.511T= (p.Ser171=)
c.61T= (p.Ser21=)
8g.60816413C>ACA371306064CHD7c.2525C>A (p.Ser842Tyr)
c.1716+35363C>A (n.1716+35363C>A)
c.512C>A (p.Ser171Tyr)
c.62C>A (p.Ser21Tyr)
 gnomAD v4
8g.60816413C=CA1788137438CHD7c.2525C= (p.Ser842=)
c.1716+35363C= (n.1716+35363C=)
c.512C= (p.Ser171=)
c.62C= (p.Ser21=)
8g.60816413C>GCA371306065CHD7c.2525C>G (p.Ser842Cys)
c.1716+35363C>G (n.1716+35363C>G)
c.512C>G (p.Ser171Cys)
c.62C>G (p.Ser21Cys)
8g.60816413C>TCA371306066CHD7c.2525C>T (p.Ser842Phe)
c.1716+35363C>T (n.1716+35363C>T)
c.512C>T (p.Ser171Phe)
c.62C>T (p.Ser21Phe)
 dbSNP gnomAD v3 gnomAD v4
8g.60816414T>ACA460845344CHD7c.2526T>A (p.Ser842=)
c.1716+35364T>A (n.1716+35364T>A)
c.513T>A (p.Ser171=)
c.63T>A (p.Ser21=)
8g.60816414T>CCA460845345CHD7c.2526T>C (p.Ser842=)
c.1716+35364T>C (n.1716+35364T>C)
c.513T>C (p.Ser171=)
c.63T>C (p.Ser21=)
 gnomAD v4
8g.60816414T>GCA460845346CHD7c.2526T>G (p.Ser842=)
c.1716+35364T>G (n.1716+35364T>G)
c.513T>G (p.Ser171=)
c.63T>G (p.Ser21=)
8g.60816414dupCA2695209619CHD7c.2526dup (p.Ile843TyrfsTer8)
c.1716+35364dup (n.1716+35364dup)
c.513dup (p.Ile172TyrfsTer8)
c.63dup (p.Ile22TyrfsTer8)
8g.60816415A=CA1788137442CHD7c.2527A= (p.Ile843=)
c.1716+35365A= (n.1716+35365A=)
c.514A= (p.Ile172=)
c.64A= (p.Ile22=)
8g.60816415A>CCA371306067CHD7c.2527A>C (p.Ile843Leu)
c.1716+35365A>C (n.1716+35365A>C)
c.514A>C (p.Ile172Leu)
c.64A>C (p.Ile22Leu)
8g.60816415A>GCA4759751CHD7c.2527A>G (p.Ile843Val)
c.1716+35365A>G (n.1716+35365A>G)
c.514A>G (p.Ile172Val)
c.64A>G (p.Ile22Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60816415A>TCA371306068CHD7c.2527A>T (p.Ile843Leu)
c.1716+35365A>T (n.1716+35365A>T)
c.514A>T (p.Ile172Leu)
c.64A>T (p.Ile22Leu)
8g.60816416T>ACA371306069CHD7c.2528T>A (p.Ile843Lys)
c.1716+35366T>A (n.1716+35366T>A)
c.515T>A (p.Ile172Lys)
c.65T>A (p.Ile22Lys)
8g.60816416T>CCA371306071CHD7c.2528T>C (p.Ile843Thr)
c.1716+35366T>C (n.1716+35366T>C)
c.515T>C (p.Ile172Thr)
c.65T>C (p.Ile22Thr)
 dbSNP gnomAD v4
8g.60816416T>GCA371306070CHD7c.2528T>G (p.Ile843Arg)
c.1716+35366T>G (n.1716+35366T>G)
c.515T>G (p.Ile172Arg)
c.65T>G (p.Ile22Arg)
8g.60816416T=CA1788137447CHD7c.2528T= (p.Ile843=)
c.1716+35366T= (n.1716+35366T=)
c.515T= (p.Ile172=)
c.65T= (p.Ile22=)
8g.60816417A=CA1788137450CHD7c.2529A= (p.Ile843=)
c.1716+35367A= (n.1716+35367A=)
c.516A= (p.Ile172=)
c.66A= (p.Ile22=)
8g.60816417A>CCA460845347CHD7c.2529A>C (p.Ile843=)
c.1716+35367A>C (n.1716+35367A>C)
c.516A>C (p.Ile172=)
c.66A>C (p.Ile22=)
8g.60816417A>GCA371306072CHD7c.2529A>G (p.Ile843Met)
c.1716+35367A>G (n.1716+35367A>G)
c.516A>G (p.Ile172Met)
c.66A>G (p.Ile22Met)
 gnomAD v4
8g.60816417A>TCA460845348CHD7c.2529A>T (p.Ile843=)
c.1716+35367A>T (n.1716+35367A>T)
c.516A>T (p.Ile172=)
c.66A>T (p.Ile22=)
 dbSNP gnomAD v2 gnomAD v4
8g.60816420_60816422delCA2695209620CHD7c.2532_2534del (p.Glu844del)
c.1716+35370_1716+35372del (n.1716+35370_1716+35372del)
c.519_521del (p.Glu173del)
c.69_71del (p.Glu23del)
8g.60816418G>ACA371306073CHD7c.2530G>A (p.Glu844Lys)
c.1716+35368G>A (n.1716+35368G>A)
c.517G>A (p.Glu173Lys)
c.67G>A (p.Glu23Lys)
 dbSNP
8g.60816418G>CCA371306074CHD7c.2530G>C (p.Glu844Gln)
c.1716+35368G>C (n.1716+35368G>C)
c.517G>C (p.Glu173Gln)
c.67G>C (p.Glu23Gln)
8g.60816418G=CA1788137454CHD7c.2530G= (p.Glu844=)
c.1716+35368G= (n.1716+35368G=)
c.517G= (p.Glu173=)
c.67G= (p.Glu23=)
8g.60816418G>TCA371306075CHD7c.2530G>T (p.Glu844Ter)
c.1716+35368G>T (n.1716+35368G>T)
c.517G>T (p.Glu173Ter)
c.67G>T (p.Glu23Ter)
8g.60816419A>CCA371306076CHD7c.2531A>C (p.Glu844Ala)
c.1716+35369A>C (n.1716+35369A>C)
c.518A>C (p.Glu173Ala)
c.68A>C (p.Glu23Ala)
8g.60816419A>GCA371306077CHD7c.2531A>G (p.Glu844Gly)
c.1716+35369A>G (n.1716+35369A>G)
c.518A>G (p.Glu173Gly)
c.68A>G (p.Glu23Gly)
8g.60816419A>TCA371306078CHD7c.2531A>T (p.Glu844Val)
c.1716+35369A>T (n.1716+35369A>T)
c.518A>T (p.Glu173Val)
c.68A>T (p.Glu23Val)
8g.60816420A>CCA371306079CHD7c.2532A>C (p.Glu844Asp)
c.1716+35370A>C (n.1716+35370A>C)
c.519A>C (p.Glu173Asp)
c.69A>C (p.Glu23Asp)
8g.60816420A>GCA460845349CHD7c.2532A>G (p.Glu844=)
c.1716+35370A>G (n.1716+35370A>G)
c.519A>G (p.Glu173=)
c.69A>G (p.Glu23=)
8g.60816420A>TCA371306080CHD7c.2532A>T (p.Glu844Asp)
c.1716+35370A>T (n.1716+35370A>T)
c.519A>T (p.Glu173Asp)
c.69A>T (p.Glu23Asp)
8g.60816421G>ACA371306081CHD7c.2533G>A (p.Asp845Asn)
c.1716+35371G>A (n.1716+35371G>A)
c.520G>A (p.Asp174Asn)
c.70G>A (p.Asp24Asn)
8g.60816421G>CCA371306082CHD7c.2533G>C (p.Asp845His)
c.1716+35371G>C (n.1716+35371G>C)
c.520G>C (p.Asp174His)
c.70G>C (p.Asp24His)
8g.60816421G>TCA371306083CHD7c.2533G>T (p.Asp845Tyr)
c.1716+35371G>T (n.1716+35371G>T)
c.520G>T (p.Asp174Tyr)
c.70G>T (p.Asp24Tyr)
 gnomAD v4
8g.60816422A=CA1788137462CHD7c.2534A= (p.Asp845=)
c.1716+35372A= (n.1716+35372A=)
c.521A= (p.Asp174=)
c.71A= (p.Asp24=)
8g.60816422A>CCA371306084CHD7c.2534A>C (p.Asp845Ala)
c.1716+35372A>C (n.1716+35372A>C)
c.521A>C (p.Asp174Ala)
c.71A>C (p.Asp24Ala)
8g.60816422A>GCA371306085CHD7c.2534A>G (p.Asp845Gly)
c.1716+35372A>G (n.1716+35372A>G)
c.521A>G (p.Asp174Gly)
c.71A>G (p.Asp24Gly)
 dbSNP
8g.60816422A>TCA371306086CHD7c.2534A>T (p.Asp845Val)
c.1716+35372A>T (n.1716+35372A>T)
c.521A>T (p.Asp174Val)
c.71A>T (p.Asp24Val)
8g.60816423T>ACA371306087CHD7c.2535T>A (p.Asp845Glu)
c.1716+35373T>A (n.1716+35373T>A)
c.522T>A (p.Asp174Glu)
c.72T>A (p.Asp24Glu)
 dbSNP gnomAD v4
8g.60816423T>CCA460845350CHD7c.2535T>C (p.Asp845=)
c.1716+35373T>C (n.1716+35373T>C)
c.522T>C (p.Asp174=)
c.72T>C (p.Asp24=)
8g.60816423T>GCA371306088CHD7c.2535T>G (p.Asp845Glu)
c.1716+35373T>G (n.1716+35373T>G)
c.522T>G (p.Asp174Glu)
c.72T>G (p.Asp24Glu)
8g.60816423T=CA1788137469CHD7c.2535T= (p.Asp845=)
c.1716+35373T= (n.1716+35373T=)
c.522T= (p.Asp174=)
c.72T= (p.Asp24=)
8g.60816424C>ACA371306089CHD7c.2536C>A (p.Leu846Met)
c.1716+35374C>A (n.1716+35374C>A)
c.523C>A (p.Leu175Met)
c.73C>A (p.Leu25Met)
 dbSNP gnomAD v4
8g.60816424C>GCA371306090CHD7c.2536C>G (p.Leu846Val)
c.1716+35374C>G (n.1716+35374C>G)
c.523C>G (p.Leu175Val)
c.73C>G (p.Leu25Val)
8g.60816424C>TCA460845351CHD7c.2536C>T (p.Leu846=)
c.1716+35374C>T (n.1716+35374C>T)
c.523C>T (p.Leu175=)
c.73C>T (p.Leu25=)
8g.60816425T>ACA371306091CHD7c.2537T>A (p.Leu846Gln)
c.1716+35375T>A (n.1716+35375T>A)
c.524T>A (p.Leu175Gln)
c.74T>A (p.Leu25Gln)
8g.60816425T>CCA371306092CHD7c.2537T>C (p.Leu846Pro)
c.1716+35375T>C (n.1716+35375T>C)
c.524T>C (p.Leu175Pro)
c.74T>C (p.Leu25Pro)
8g.60816425T>GCA371306093CHD7c.2537T>G (p.Leu846Arg)
c.1716+35375T>G (n.1716+35375T>G)
c.524T>G (p.Leu175Arg)
c.74T>G (p.Leu25Arg)
8g.60816426G>ACA460845352CHD7c.2538G>A (p.Leu846=)
c.1716+35376G>A (n.1716+35376G>A)
c.525G>A (p.Leu175=)
c.75G>A (p.Leu25=)
8g.60816426G>CCA460845353CHD7c.2538G>C (p.Leu846=)
c.1716+35376G>C (n.1716+35376G>C)
c.525G>C (p.Leu175=)
c.75G>C (p.Leu25=)
8g.60816426G>TCA460845354CHD7c.2538G>T (p.Leu846=)
c.1716+35376G>T (n.1716+35376G>T)
c.525G>T (p.Leu175=)
c.75G>T (p.Leu25=)
8g.60816427G>ACA371306094CHD7c.2539G>A (p.Glu847Lys)
c.1716+35377G>A (n.1716+35377G>A)
c.526G>A (p.Glu176Lys)
c.76G>A (p.Glu26Lys)
8g.60816427G>CCA371306095CHD7c.2539G>C (p.Glu847Gln)
c.1716+35377G>C (n.1716+35377G>C)
c.526G>C (p.Glu176Gln)
c.76G>C (p.Glu26Gln)
8g.60816427G>TCA371306096CHD7c.2539G>T (p.Glu847Ter)
c.1716+35377G>T (n.1716+35377G>T)
c.526G>T (p.Glu176Ter)
c.76G>T (p.Glu26Ter)
8g.60816428A>CCA371306097CHD7c.2540A>C (p.Glu847Ala)
c.1716+35378A>C (n.1716+35378A>C)
c.527A>C (p.Glu176Ala)
c.77A>C (p.Glu26Ala)
8g.60816428A>GCA371306098CHD7c.2540A>G (p.Glu847Gly)
c.1716+35378A>G (n.1716+35378A>G)
c.527A>G (p.Glu176Gly)
c.77A>G (p.Glu26Gly)
 gnomAD v4
8g.60816428A>TCA371306099CHD7c.2540A>T (p.Glu847Val)
c.1716+35378A>T (n.1716+35378A>T)
c.527A>T (p.Glu176Val)
c.77A>T (p.Glu26Val)
8g.60816432dupCA2780534767CHD7c.2544dup (p.Asp849ArgfsTer2)
c.1716+35382dup (n.1716+35382dup)
c.531dup (p.Asp178ArgfsTer2)
c.81dup (p.Asp28ArgfsTer2)
8g.60816432delCA2579173433CHD7c.2544del (p.Asp849IlefsTer?)
c.1716+35382del (n.1716+35382del)
c.531del (p.Asp178IlefsTer?)
c.81del (p.Asp28IlefsTer?)
 ClinVar gnomAD v4
8g.60816429A>CCA371306100CHD7c.2541A>C (p.Glu847Asp)
c.1716+35379A>C (n.1716+35379A>C)
c.528A>C (p.Glu176Asp)
c.78A>C (p.Glu26Asp)
8g.60816429A>GCA460845355CHD7c.2541A>G (p.Glu847=)
c.1716+35379A>G (n.1716+35379A>G)
c.528A>G (p.Glu176=)
c.78A>G (p.Glu26=)
8g.60816429A>TCA371306101CHD7c.2541A>T (p.Glu847Asp)
c.1716+35379A>T (n.1716+35379A>T)
c.528A>T (p.Glu176Asp)
c.78A>T (p.Glu26Asp)
8g.60816430A>CCA371306104CHD7c.2542A>C (p.Lys848Gln)
c.1716+35380A>C (n.1716+35380A>C)
c.529A>C (p.Lys177Gln)
c.79A>C (p.Lys27Gln)
8g.60816430A>GCA371306102CHD7c.2542A>G (p.Lys848Glu)
c.1716+35380A>G (n.1716+35380A>G)
c.529A>G (p.Lys177Glu)
c.79A>G (p.Lys27Glu)
8g.60816430A>TCA371306103CHD7c.2542A>T (p.Lys848Ter)
c.1716+35380A>T (n.1716+35380A>T)
c.529A>T (p.Lys177Ter)
c.79A>T (p.Lys27Ter)
8g.60816431A=CA1788137473CHD7c.2543A= (p.Lys848=)
c.1716+35381A= (n.1716+35381A=)
c.530A= (p.Lys177=)
c.80A= (p.Lys27=)
8g.60816431A>CCA371306105CHD7c.2543A>C (p.Lys848Thr)
c.1716+35381A>C (n.1716+35381A>C)
c.530A>C (p.Lys177Thr)
c.80A>C (p.Lys27Thr)
8g.60816431A>GCA177326579CHD7c.2543A>G (p.Lys848Arg)
c.1716+35381A>G (n.1716+35381A>G)
c.530A>G (p.Lys177Arg)
c.80A>G (p.Lys27Arg)
 dbSNP
8g.60816431A>TCA371306106CHD7c.2543A>T (p.Lys848Ile)
c.1716+35381A>T (n.1716+35381A>T)
c.530A>T (p.Lys177Ile)
c.80A>T (p.Lys27Ile)
8g.60816432A>CCA371306107CHD7c.2544A>C (p.Lys848Asn)
c.1716+35382A>C (n.1716+35382A>C)
c.531A>C (p.Lys177Asn)
c.81A>C (p.Lys27Asn)
8g.60816432A>GCA460845356CHD7c.2544A>G (p.Lys848=)
c.1716+35382A>G (n.1716+35382A>G)
c.531A>G (p.Lys177=)
c.81A>G (p.Lys27=)
8g.60816432A>TCA371306108CHD7c.2544A>T (p.Lys848Asn)
c.1716+35382A>T (n.1716+35382A>T)
c.531A>T (p.Lys177Asn)
c.81A>T (p.Lys27Asn)
8g.60816432_60816434delinsTGCA2580078451CHD7c.2544_2546delinsTG (p.Lys848AsnfsTer?)
c.1716+35382_1716+35384delinsTG (n.1716+35382_1716+35384delinsTG)
c.531_533delinsTG (p.Lys177AsnfsTer?)
c.81_83delinsTG (p.Lys27AsnfsTer?)
 ClinVar
8g.60816433G>ACA371306109CHD7c.2545G>A (p.Asp849Asn)
c.1716+35383G>A (n.1716+35383G>A)
c.532G>A (p.Asp178Asn)
c.82G>A (p.Asp28Asn)
 dbSNP gnomAD v2
8g.60816433G>CCA371306110CHD7c.2545G>C (p.Asp849His)
c.1716+35383G>C (n.1716+35383G>C)
c.532G>C (p.Asp178His)
c.82G>C (p.Asp28His)
8g.60816433G=CA1788137474CHD7c.2545G= (p.Asp849=)
c.1716+35383G= (n.1716+35383G=)
c.532G= (p.Asp178=)
c.82G= (p.Asp28=)
8g.60816433G>TCA4759752CHD7c.2545G>T (p.Asp849Tyr)
c.1716+35383G>T (n.1716+35383G>T)
c.532G>T (p.Asp178Tyr)
c.82G>T (p.Asp28Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
8g.60816434A>CCA371306111CHD7c.2546A>C (p.Asp849Ala)
c.1716+35384A>C (n.1716+35384A>C)
c.533A>C (p.Asp178Ala)
c.83A>C (p.Asp28Ala)
8g.60816434A>GCA371306112CHD7c.2546A>G (p.Asp849Gly)
c.1716+35384A>G (n.1716+35384A>G)
c.533A>G (p.Asp178Gly)
c.83A>G (p.Asp28Gly)
8g.60816434A>TCA371306113CHD7c.2546A>T (p.Asp849Val)
c.1716+35384A>T (n.1716+35384A>T)
c.533A>T (p.Asp178Val)
c.83A>T (p.Asp28Val)
8g.60816435delCA2687396745CHD7c.2547del (p.Asp849GlufsTer?)
c.1716+35385del (n.1716+35385del)
c.534del (p.Asp178GlufsTer?)
c.84del (p.Asp28GlufsTer?)
 gnomAD v4
8g.60816435T>ACA371306114CHD7c.2547T>A (p.Asp849Glu)
c.1716+35385T>A (n.1716+35385T>A)
c.534T>A (p.Asp178Glu)
c.84T>A (p.Asp28Glu)
8g.60816435T>CCA460845357CHD7c.2547T>C (p.Asp849=)
c.1716+35385T>C (n.1716+35385T>C)
c.534T>C (p.Asp178=)
c.84T>C (p.Asp28=)
8g.60816435T>GCA371306115CHD7c.2547T>G (p.Asp849Glu)
c.1716+35385T>G (n.1716+35385T>G)
c.534T>G (p.Asp178Glu)
c.84T>G (p.Asp28Glu)
8g.60816436A>CCA371306118CHD7c.2548A>C (p.Lys850Gln)
c.1716+35386A>C (n.1716+35386A>C)
c.535A>C (p.Lys179Gln)
c.85A>C (p.Lys29Gln)
8g.60816436A>GCA371306116CHD7c.2548A>G (p.Lys850Glu)
c.1716+35386A>G (n.1716+35386A>G)
c.535A>G (p.Lys179Glu)
c.85A>G (p.Lys29Glu)
8g.60816436A>TCA371306117CHD7c.2548A>T (p.Lys850Ter)
c.1716+35386A>T (n.1716+35386A>T)
c.535A>T (p.Lys179Ter)
c.85A>T (p.Lys29Ter)
8g.60816438_60816442delCA2695209621CHD7c.2550_2554del (p.Lys850AsnfsTer6)
c.1716+35388_1716+35392del (n.1716+35388_1716+35392del)
c.537_541del (p.Lys179AsnfsTer6)
c.87_91del (p.Lys29AsnfsTer6)
8g.60816437A>CCA371306119CHD7c.2549A>C (p.Lys850Thr)
c.1716+35387A>C (n.1716+35387A>C)
c.536A>C (p.Lys179Thr)
c.86A>C (p.Lys29Thr)
 gnomAD v4
8g.60816437A>GCA371306120CHD7c.2549A>G (p.Lys850Arg)
c.1716+35387A>G (n.1716+35387A>G)
c.536A>G (p.Lys179Arg)
c.86A>G (p.Lys29Arg)
8g.60816437A>TCA371306121CHD7c.2549A>T (p.Lys850Met)
c.1716+35387A>T (n.1716+35387A>T)
c.536A>T (p.Lys179Met)
c.86A>T (p.Lys29Met)
8g.60816438G>ACA460845358CHD7c.2550G>A (p.Lys850=)
c.1716+35388G>A (n.1716+35388G>A)
c.537G>A (p.Lys179=)
c.87G>A (p.Lys29=)
8g.60816438G>CCA371306122CHD7c.2550G>C (p.Lys850Asn)
c.1716+35388G>C (n.1716+35388G>C)
c.537G>C (p.Lys179Asn)
c.87G>C (p.Lys29Asn)
8g.60816438G>TCA371306123CHD7c.2550G>T (p.Lys850Asn)
c.1716+35388G>T (n.1716+35388G>T)
c.537G>T (p.Lys179Asn)
c.87G>T (p.Lys29Asn)
8g.60816439A=CA1788137476CHD7c.2551A= (p.Arg851=)
c.1716+35389A= (n.1716+35389A=)
c.538A= (p.Arg180=)
c.88A= (p.Arg30=)
8g.60816439A>CCA460845359CHD7c.2551A>C (p.Arg851=)
c.1716+35389A>C (n.1716+35389A>C)
c.538A>C (p.Arg180=)
c.88A>C (p.Arg30=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60816439A>GCA371306124CHD7c.2551A>G (p.Arg851Gly)
c.1716+35389A>G (n.1716+35389A>G)
c.538A>G (p.Arg180Gly)
c.88A>G (p.Arg30Gly)
8g.60816439A>TCA371306125CHD7c.2551A>T (p.Arg851Ter)
c.1716+35389A>T (n.1716+35389A>T)
c.538A>T (p.Arg180Ter)
c.88A>T (p.Arg30Ter)
8g.60816440G>ACA371306126CHD7c.2552G>A (p.Arg851Lys)
c.1716+35390G>A (n.1716+35390G>A)
c.539G>A (p.Arg180Lys)
c.89G>A (p.Arg30Lys)
 COSMIC
8g.60816440G>CCA371306127CHD7c.2552G>C (p.Arg851Thr)
c.1716+35390G>C (n.1716+35390G>C)
c.539G>C (p.Arg180Thr)
c.89G>C (p.Arg30Thr)
8g.60816440G>TCA371306128CHD7c.2552G>T (p.Arg851Ile)
c.1716+35390G>T (n.1716+35390G>T)
c.539G>T (p.Arg180Ile)
c.89G>T (p.Arg30Ile)
 gnomAD v4 COSMIC
8g.60816441A>CCA371306131CHD7c.2553A>C (p.Arg851Ser)
c.1716+35391A>C (n.1716+35391A>C)
c.540A>C (p.Arg180Ser)
c.90A>C (p.Arg30Ser)
 gnomAD v4
8g.60816441A>GCA460845360CHD7c.2553A>G (p.Arg851=)
c.1716+35391A>G (n.1716+35391A>G)
c.540A>G (p.Arg180=)
c.90A>G (p.Arg30=)
8g.60816441A>TCA371306132CHD7c.2553A>T (p.Arg851Ser)
c.1716+35391A>T (n.1716+35391A>T)
c.540A>T (p.Arg180Ser)
c.90A>T (p.Arg30Ser)
8g.60816442A>CCA371306134CHD7c.2554A>C (p.Ile852Leu)
c.1716+35392A>C (n.1716+35392A>C)
c.541A>C (p.Ile181Leu)
c.91A>C (p.Ile31Leu)
8g.60816442A>GCA371306136CHD7c.2554A>G (p.Ile852Val)
c.1716+35392A>G (n.1716+35392A>G)
c.541A>G (p.Ile181Val)
c.91A>G (p.Ile31Val)
 gnomAD v4
8g.60816442A>TCA371306135CHD7c.2554A>T (p.Ile852Phe)
c.1716+35392A>T (n.1716+35392A>T)
c.541A>T (p.Ile181Phe)
c.91A>T (p.Ile31Phe)
8g.60816443T>ACA371306138CHD7c.2555T>A (p.Ile852Asn)
c.1716+35393T>A (n.1716+35393T>A)
c.542T>A (p.Ile181Asn)
c.92T>A (p.Ile31Asn)
8g.60816443T>CCA371306140CHD7c.2555T>C (p.Ile852Thr)
c.1716+35393T>C (n.1716+35393T>C)
c.542T>C (p.Ile181Thr)
c.92T>C (p.Ile31Thr)
 dbSNP
8g.60816443T>GCA371306141CHD7c.2555T>G (p.Ile852Ser)
c.1716+35393T>G (n.1716+35393T>G)
c.542T>G (p.Ile181Ser)
c.92T>G (p.Ile31Ser)
8g.60816444T>ACA460845361CHD7c.2556T>A (p.Ile852=)
c.1716+35394T>A (n.1716+35394T>A)
c.543T>A (p.Ile181=)
c.93T>A (p.Ile31=)
8g.60816444T>CCA460845362CHD7c.2556T>C (p.Ile852=)
c.1716+35394T>C (n.1716+35394T>C)
c.543T>C (p.Ile181=)
c.93T>C (p.Ile31=)
8g.60816444T>GCA371306142CHD7c.2556T>G (p.Ile852Met)
c.1716+35394T>G (n.1716+35394T>G)
c.543T>G (p.Ile181Met)
c.93T>G (p.Ile31Met)
8g.60816445C>ACA371306144CHD7c.2557C>A (p.Gln853Lys)
c.1716+35395C>A (n.1716+35395C>A)
c.544C>A (p.Gln182Lys)
c.94C>A (p.Gln32Lys)
8g.60816445C=CA1788137478CHD7c.2557C= (p.Gln853=)
c.1716+35395C= (n.1716+35395C=)
c.544C= (p.Gln182=)
c.94C= (p.Gln32=)
8g.60816445C>GCA371306145CHD7c.2557C>G (p.Gln853Glu)
c.1716+35395C>G (n.1716+35395C>G)
c.544C>G (p.Gln182Glu)
c.94C>G (p.Gln32Glu)
 dbSNP gnomAD v4
8g.60816445C>TCA371306146CHD7c.2557C>T (p.Gln853Ter)
c.1716+35395C>T (n.1716+35395C>T)
c.544C>T (p.Gln182Ter)
c.94C>T (p.Gln32Ter)
8g.60816446A>CCA371306149CHD7c.2558A>C (p.Gln853Pro)
c.1716+35396A>C (n.1716+35396A>C)
c.545A>C (p.Gln182Pro)
c.95A>C (p.Gln32Pro)
 gnomAD v4
8g.60816446A>GCA371306151CHD7c.2558A>G (p.Gln853Arg)
c.1716+35396A>G (n.1716+35396A>G)
c.545A>G (p.Gln182Arg)
c.95A>G (p.Gln32Arg)
8g.60816446A>TCA371306153CHD7c.2558A>T (p.Gln853Leu)
c.1716+35396A>T (n.1716+35396A>T)
c.545A>T (p.Gln182Leu)
c.95A>T (p.Gln32Leu)
 ClinVar gnomAD v4
8g.60816447G>ACA4759753CHD7c.2559G>A (p.Gln853=)
c.1716+35397G>A (n.1716+35397G>A)
c.546G>A (p.Gln182=)
c.96G>A (p.Gln32=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60816447G>CCA371306155CHD7c.2559G>C (p.Gln853His)
c.1716+35397G>C (n.1716+35397G>C)
c.546G>C (p.Gln182His)
c.96G>C (p.Gln32His)
8g.60816447G=CA1788137479CHD7c.2559G= (p.Gln853=)
c.1716+35397G= (n.1716+35397G=)
c.546G= (p.Gln182=)
c.96G= (p.Gln32=)
8g.60816447G>TCA371306157CHD7c.2559G>T (p.Gln853His)
c.1716+35397G>T (n.1716+35397G>T)
c.546G>T (p.Gln182His)
c.96G>T (p.Gln32His)
8g.60816448C>ACA371306165CHD7c.2560C>A (p.Gln854Lys)
c.1716+35398C>A (n.1716+35398C>A)
c.547C>A (p.Gln183Lys)
c.97C>A (p.Gln33Lys)
 gnomAD v4
8g.60816448C>GCA371306163CHD7c.2560C>G (p.Gln854Glu)
c.1716+35398C>G (n.1716+35398C>G)
c.547C>G (p.Gln183Glu)
c.97C>G (p.Gln33Glu)
8g.60816448C>TCA371306161CHD7c.2560C>T (p.Gln854Ter)
c.1716+35398C>T (n.1716+35398C>T)
c.547C>T (p.Gln183Ter)
c.97C>T (p.Gln33Ter)
8g.60816449A>CCA371306167CHD7c.2561A>C (p.Gln854Pro)
c.1716+35399A>C (n.1716+35399A>C)
c.548A>C (p.Gln183Pro)
c.98A>C (p.Gln33Pro)
8g.60816449A>GCA371306168CHD7c.2561A>G (p.Gln854Arg)
c.1716+35399A>G (n.1716+35399A>G)
c.548A>G (p.Gln183Arg)
c.98A>G (p.Gln33Arg)
8g.60816449A>TCA371306170CHD7c.2561A>T (p.Gln854Leu)
c.1716+35399A>T (n.1716+35399A>T)
c.548A>T (p.Gln183Leu)
c.98A>T (p.Gln33Leu)
8g.60816454delCA2695209622CHD7c.2566del (p.Ile856LeufsTer?)
c.1716+35404del (n.1716+35404del)
c.553del (p.Ile185LeufsTer?)
c.103del (p.Ile35LeufsTer?)
8g.60816450A=CA1788137482CHD7c.2562A= (p.Gln854=)
c.1716+35400A= (n.1716+35400A=)
c.549A= (p.Gln183=)
c.99A= (p.Gln33=)
8g.60816450A>CCA371306174CHD7c.2562A>C (p.Gln854His)
c.1716+35400A>C (n.1716+35400A>C)
c.549A>C (p.Gln183His)
c.99A>C (p.Gln33His)
8g.60816450A>GCA177326606CHD7c.2562A>G (p.Gln854=)
c.1716+35400A>G (n.1716+35400A>G)
c.549A>G (p.Gln183=)
c.99A>G (p.Gln33=)
 dbSNP gnomAD v4
8g.60816450A>TCA371306177CHD7c.2562A>T (p.Gln854His)
c.1716+35400A>T (n.1716+35400A>T)
c.549A>T (p.Gln183His)
c.99A>T (p.Gln33His)
8g.60816451A>CCA371306178CHD7c.2563A>C (p.Lys855Gln)
c.1716+35401A>C (n.1716+35401A>C)
c.550A>C (p.Lys184Gln)
c.100A>C (p.Lys34Gln)
8g.60816451A>GCA371306179CHD7c.2563A>G (p.Lys855Glu)
c.1716+35401A>G (n.1716+35401A>G)
c.550A>G (p.Lys184Glu)
c.100A>G (p.Lys34Glu)
8g.60816451A>TCA371306180CHD7c.2563A>T (p.Lys855Ter)
c.1716+35401A>T (n.1716+35401A>T)
c.550A>T (p.Lys184Ter)
c.100A>T (p.Lys34Ter)
8g.60816452A>CCA371306181CHD7c.2564A>C (p.Lys855Thr)
c.1716+35402A>C (n.1716+35402A>C)
c.551A>C (p.Lys184Thr)
c.101A>C (p.Lys34Thr)
8g.60816452A>GCA371306182CHD7c.2564A>G (p.Lys855Arg)
c.1716+35402A>G (n.1716+35402A>G)
c.551A>G (p.Lys184Arg)
c.101A>G (p.Lys34Arg)
8g.60816452A>TCA371306184CHD7c.2564A>T (p.Lys855Ile)
c.1716+35402A>T (n.1716+35402A>T)
c.551A>T (p.Lys184Ile)
c.101A>T (p.Lys34Ile)
8g.60816453A>CCA371306187CHD7c.2565A>C (p.Lys855Asn)
c.1716+35403A>C (n.1716+35403A>C)
c.552A>C (p.Lys184Asn)
c.102A>C (p.Lys34Asn)
8g.60816453A>GCA460845363CHD7c.2565A>G (p.Lys855=)
c.1716+35403A>G (n.1716+35403A>G)
c.552A>G (p.Lys184=)
c.102A>G (p.Lys34=)
8g.60816453A>TCA371306190CHD7c.2565A>T (p.Lys855Asn)
c.1716+35403A>T (n.1716+35403A>T)
c.552A>T (p.Lys184Asn)
c.102A>T (p.Lys34Asn)
8g.60816455_60816458delCA2695209623CHD7c.2567_2570del (p.Ile856AsnfsTer?)
c.1716+35405_1716+35408del (n.1716+35405_1716+35408del)
c.554_557del (p.Ile185AsnfsTer?)
c.104_107del (p.Ile35AsnfsTer?)
8g.60816454A=CA1788137485CHD7c.2566A= (p.Ile856=)
c.1716+35404A= (n.1716+35404A=)
c.553A= (p.Ile185=)
c.103A= (p.Ile35=)
8g.60816454A>CCA371306195CHD7c.2566A>C (p.Ile856Leu)
c.1716+35404A>C (n.1716+35404A>C)
c.553A>C (p.Ile185Leu)
c.103A>C (p.Ile35Leu)
8g.60816454A>GCA4759754CHD7c.2566A>G (p.Ile856Val)
c.1716+35404A>G (n.1716+35404A>G)
c.553A>G (p.Ile185Val)
c.103A>G (p.Ile35Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60816454A>TCA371306193CHD7c.2566A>T (p.Ile856Phe)
c.1716+35404A>T (n.1716+35404A>T)
c.553A>T (p.Ile185Phe)
c.103A>T (p.Ile35Phe)
8g.60816454_60816455delinsATCA1788137487CHD7c.2566_2567delinsAT (p.Ile856=)
c.1716+35404_1716+35405delinsAT (n.1716+35404_1716+35405delinsAT)
c.553_554delinsAT (p.Ile185=)
c.103_104delinsAT (p.Ile35=)
8g.60816455T>ACA371306200CHD7c.2567T>A (p.Ile856Asn)
c.1716+35405T>A (n.1716+35405T>A)
c.554T>A (p.Ile185Asn)
c.104T>A (p.Ile35Asn)
 gnomAD v4
8g.60816455T>CCA371306202CHD7c.2567T>C (p.Ile856Thr)
c.1716+35405T>C (n.1716+35405T>C)
c.554T>C (p.Ile185Thr)
c.104T>C (p.Ile35Thr)
8g.60816455T>GCA371306204CHD7c.2567T>G (p.Ile856Ser)
c.1716+35405T>G (n.1716+35405T>G)
c.554T>G (p.Ile185Ser)
c.104T>G (p.Ile35Ser)
8g.60816456delCA16612638CHD7c.2568del (p.Lys857AsnfsTer?)
c.1716+35406del (n.1716+35406del)
c.555del (p.Lys186AsnfsTer?)
c.105del (p.Lys36AsnfsTer?)
 ClinVar dbSNP
8g.60816456T>ACA460845364CHD7c.2568T>A (p.Ile856=)
c.1716+35406T>A (n.1716+35406T>A)
c.555T>A (p.Ile185=)
c.105T>A (p.Ile35=)
 gnomAD v4
8g.60816456T>CCA460845365CHD7c.2568T>C (p.Ile856=)
c.1716+35406T>C (n.1716+35406T>C)
c.555T>C (p.Ile185=)
c.105T>C (p.Ile35=)
8g.60816456T>GCA371306205CHD7c.2568T>G (p.Ile856Met)
c.1716+35406T>G (n.1716+35406T>G)
c.555T>G (p.Ile185Met)
c.105T>G (p.Ile35Met)
8g.60816457A>CCA371306209CHD7c.2569A>C (p.Lys857Gln)
c.1716+35407A>C (n.1716+35407A>C)
c.556A>C (p.Lys186Gln)
c.106A>C (p.Lys36Gln)
8g.60816457A>GCA371306210CHD7c.2569A>G (p.Lys857Glu)
c.1716+35407A>G (n.1716+35407A>G)
c.556A>G (p.Lys186Glu)
c.106A>G (p.Lys36Glu)
8g.60816457A>TCA371306213CHD7c.2569A>T (p.Lys857Ter)
c.1716+35407A>T (n.1716+35407A>T)
c.556A>T (p.Lys186Ter)
c.106A>T (p.Lys36Ter)
8g.60816459dupCA2695209624CHD7c.2571dup (p.Arg858ThrfsTer3)
c.1716+35409dup (n.1716+35409dup)
c.558dup (p.Arg187ThrfsTer3)
c.108dup (p.Arg37ThrfsTer3)
8g.60816458A>CCA371306215CHD7c.2570A>C (p.Lys857Thr)
c.1716+35408A>C (n.1716+35408A>C)
c.557A>C (p.Lys186Thr)
c.107A>C (p.Lys36Thr)
8g.60816458A>GCA371306217CHD7c.2570A>G (p.Lys857Arg)
c.1716+35408A>G (n.1716+35408A>G)
c.557A>G (p.Lys186Arg)
c.107A>G (p.Lys36Arg)
8g.60816458A>TCA371306219CHD7c.2570A>T (p.Lys857Ile)
c.1716+35408A>T (n.1716+35408A>T)
c.557A>T (p.Lys186Ile)
c.107A>T (p.Lys36Ile)
8g.60816459A>CCA371306221CHD7c.2571A>C (p.Lys857Asn)
c.1716+35409A>C (n.1716+35409A>C)
c.558A>C (p.Lys186Asn)
c.108A>C (p.Lys36Asn)
8g.60816459A>GCA460845366CHD7c.2571A>G (p.Lys857=)
c.1716+35409A>G (n.1716+35409A>G)
c.558A>G (p.Lys186=)
c.108A>G (p.Lys36=)
 gnomAD v4
8g.60816459A>TCA371306223CHD7c.2571A>T (p.Lys857Asn)
c.1716+35409A>T (n.1716+35409A>T)
c.558A>T (p.Lys186Asn)
c.108A>T (p.Lys36Asn)
8g.60816460C>ACA460845367CHD7c.2572C>A (p.Arg858=)
c.1716+35410C>A (n.1716+35410C>A)
c.559C>A (p.Arg187=)
c.109C>A (p.Arg37=)
 gnomAD v4
8g.60816460C=CA1788137498CHD7c.2572C= (p.Arg858=)
c.1716+35410C= (n.1716+35410C=)
c.559C= (p.Arg187=)
c.109C= (p.Arg37=)
8g.60816460C>GCA371306228CHD7c.2572C>G (p.Arg858Gly)
c.1716+35410C>G (n.1716+35410C>G)
c.559C>G (p.Arg187Gly)
c.109C>G (p.Arg37Gly)
8g.60816460C>TCA371306226CHD7c.2572C>T (p.Arg858Ter)
c.1716+35410C>T (n.1716+35410C>T)
c.559C>T (p.Arg187Ter)
c.109C>T (p.Arg37Ter)
 ClinVar dbSNP COSMIC
8g.60816461G>ACA371306231CHD7c.2573G>A (p.Arg858Gln)
c.1716+35411G>A (n.1716+35411G>A)
c.560G>A (p.Arg187Gln)
c.110G>A (p.Arg37Gln)
 dbSNP gnomAD v4 COSMIC
8g.60816461G>CCA371306234CHD7c.2573G>C (p.Arg858Pro)
c.1716+35411G>C (n.1716+35411G>C)
c.560G>C (p.Arg187Pro)
c.110G>C (p.Arg37Pro)
8g.60816461G>TCA371306236CHD7c.2573G>T (p.Arg858Leu)
c.1716+35411G>T (n.1716+35411G>T)
c.560G>T (p.Arg187Leu)
c.110G>T (p.Arg37Leu)
 gnomAD v4
8g.60816462A>CCA460845368CHD7c.2574A>C (p.Arg858=)
c.1716+35412A>C (n.1716+35412A>C)
c.561A>C (p.Arg187=)
c.111A>C (p.Arg37=)
8g.60816462A>GCA460845369CHD7c.2574A>G (p.Arg858=)
c.1716+35412A>G (n.1716+35412A>G)
c.561A>G (p.Arg187=)
c.111A>G (p.Arg37=)
8g.60816462A>TCA460845370CHD7c.2574A>T (p.Arg858=)
c.1716+35412A>T (n.1716+35412A>T)
c.561A>T (p.Arg187=)
c.111A>T (p.Arg37=)
8g.60816463T>ACA371306238CHD7c.2575T>A (p.Phe859Ile)
c.1716+35413T>A (n.1716+35413T>A)
c.562T>A (p.Phe188Ile)
c.112T>A (p.Phe38Ile)
8g.60816463T>CCA371306239CHD7c.2575T>C (p.Phe859Leu)
c.1716+35413T>C (n.1716+35413T>C)
c.562T>C (p.Phe188Leu)
c.112T>C (p.Phe38Leu)
 dbSNP gnomAD v3 gnomAD v4
8g.60816463T>GCA371306240CHD7c.2575T>G (p.Phe859Val)
c.1716+35413T>G (n.1716+35413T>G)
c.562T>G (p.Phe188Val)
c.112T>G (p.Phe38Val)
8g.60816463T=CA1788138361CHD7c.2575T= (p.Phe859=)
c.1716+35413T= (n.1716+35413T=)
c.562T= (p.Phe188=)
c.112T= (p.Phe38=)
8g.60816465dupCA2695209625CHD7c.2577dup (p.Lys860Ter)
c.1716+35415dup (n.1716+35415dup)
c.564dup (p.Lys189Ter)
c.114dup (p.Lys39Ter)
8g.60816464T>ACA371306243CHD7c.2576T>A (p.Phe859Tyr)
c.1716+35414T>A (n.1716+35414T>A)
c.563T>A (p.Phe188Tyr)
c.113T>A (p.Phe38Tyr)
8g.60816464T>CCA371306244CHD7c.2576T>C (p.Phe859Ser)
c.1716+35414T>C (n.1716+35414T>C)
c.563T>C (p.Phe188Ser)
c.113T>C (p.Phe38Ser)
8g.60816464T>GCA371306246CHD7c.2576T>G (p.Phe859Cys)
c.1716+35414T>G (n.1716+35414T>G)
c.563T>G (p.Phe188Cys)
c.113T>G (p.Phe38Cys)
8g.60816465T>ACA371306248CHD7c.2577T>A (p.Phe859Leu)
c.1716+35415T>A (n.1716+35415T>A)
c.564T>A (p.Phe188Leu)
c.114T>A (p.Phe38Leu)
8g.60816465T>CCA460845371CHD7c.2577T>C (p.Phe859=)
c.1716+35415T>C (n.1716+35415T>C)
c.564T>C (p.Phe188=)
c.114T>C (p.Phe38=)
8g.60816465T>GCA371306249CHD7c.2577T>G (p.Phe859Leu)
c.1716+35415T>G (n.1716+35415T>G)
c.564T>G (p.Phe188Leu)
c.114T>G (p.Phe38Leu)
8g.60816466A>CCA371306255CHD7c.2578A>C (p.Lys860Gln)
c.1716+35416A>C (n.1716+35416A>C)
c.565A>C (p.Lys189Gln)
c.115A>C (p.Lys39Gln)
8g.60816466A>GCA371306254CHD7c.2578A>G (p.Lys860Glu)
c.1716+35416A>G (n.1716+35416A>G)
c.565A>G (p.Lys189Glu)
c.115A>G (p.Lys39Glu)
 gnomAD v4
8g.60816466A>TCA371306252CHD7c.2578A>T (p.Lys860Ter)
c.1716+35416A>T (n.1716+35416A>T)
c.565A>T (p.Lys189Ter)
c.115A>T (p.Lys39Ter)
8g.60816467A>CCA371306258CHD7c.2579A>C (p.Lys860Thr)
c.1716+35417A>C (n.1716+35417A>C)
c.566A>C (p.Lys189Thr)
c.116A>C (p.Lys39Thr)
8g.60816467A>GCA371306260CHD7c.2579A>G (p.Lys860Arg)
c.1716+35417A>G (n.1716+35417A>G)
c.566A>G (p.Lys189Arg)
c.116A>G (p.Lys39Arg)
8g.60816467A>TCA371306259CHD7c.2579A>T (p.Lys860Met)
c.1716+35417A>T (n.1716+35417A>T)
c.566A>T (p.Lys189Met)
c.116A>T (p.Lys39Met)
8g.60816468G>ACA460845372CHD7c.2580G>A (p.Lys860=)
c.1716+35418G>A (n.1716+35418G>A)
c.567G>A (p.Lys189=)
c.117G>A (p.Lys39=)
 gnomAD v4
8g.60816468G>CCA371306261CHD7c.2580G>C (p.Lys860Asn)
c.1716+35418G>C (n.1716+35418G>C)
c.567G>C (p.Lys189Asn)
c.117G>C (p.Lys39Asn)
8g.60816468G>TCA371306263CHD7c.2580G>T (p.Lys860Asn)
c.1716+35418G>T (n.1716+35418G>T)
c.567G>T (p.Lys189Asn)
c.117G>T (p.Lys39Asn)
8g.60816469G>ACA371306266CHD7c.2581G>A (p.Ala861Thr)
c.1716+35419G>A (n.1716+35419G>A)
c.568G>A (p.Ala190Thr)
c.118G>A (p.Ala40Thr)
 gnomAD v4
8g.60816469G>CCA371306268CHD7c.2581G>C (p.Ala861Pro)
c.1716+35419G>C (n.1716+35419G>C)
c.568G>C (p.Ala190Pro)
c.118G>C (p.Ala40Pro)
8g.60816469G>TCA371306269CHD7c.2581G>T (p.Ala861Ser)
c.1716+35419G>T (n.1716+35419G>T)
c.568G>T (p.Ala190Ser)
c.118G>T (p.Ala40Ser)

Number of alleles fetched