Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.21393459C=CA2122505868CHD8c.5482+17G= (n.5482+17G=)
c.4019+17G=
c.6319+17G= (n.6319+17G=)
n.5475+17G=
14g.21393459C>GCA257592823CHD8c.5482+17G>C (n.5482+17G>C)
c.4019+17G>C
c.6319+17G>C (n.6319+17G>C)
n.5475+17G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.21393460T>ACA612384279CHD8c.5482+16A>T (n.5482+16A>T)
c.4019+16A>T
c.6319+16A>T (n.6319+16A>T)
n.5475+16A>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.21393460T>CCA2624078650CHD8c.5482+16A>G (n.5482+16A>G)
c.4019+16A>G
c.6319+16A>G (n.6319+16A>G)
n.5475+16A>G
 gnomAD v4
14g.21393460T=CA2122505872CHD8c.5482+16A= (n.5482+16A=)
c.4019+16A=
c.6319+16A= (n.6319+16A=)
n.5475+16A=
14g.21393461G>TCA2624078651CHD8c.5482+15C>A (n.5482+15C>A)
c.4019+15C>A
c.6319+15C>A (n.6319+15C>A)
n.5475+15C>A
 gnomAD v4
14g.21393463C>ACA2624078654CHD8c.5482+13G>T (n.5482+13G>T)
c.4019+13G>T
c.6319+13G>T (n.6319+13G>T)
n.5475+13G>T
 gnomAD v4
14g.21393465C>ACA2624078656CHD8c.5482+11G>T (n.5482+11G>T)
c.4019+11G>T
c.6319+11G>T (n.6319+11G>T)
n.5475+11G>T
 gnomAD v4
14g.21393465C=CA2122505874CHD8c.5482+11G= (n.5482+11G=)
c.4019+11G=
c.6319+11G= (n.6319+11G=)
n.5475+11G=
14g.21393465C>TCA612384280CHD8c.5482+11G>A (n.5482+11G>A)
c.4019+11G>A
c.6319+11G>A (n.6319+11G>A)
n.5475+11G>A
 dbSNP gnomAD v2 gnomAD v4
14g.21393466A>TCA2624078657CHD8c.5482+10T>A (n.5482+10T>A)
c.4019+10T>A
c.6319+10T>A (n.6319+10T>A)
n.5475+10T>A
 gnomAD v4
14g.21393468G>ACA2122505875CHD8c.5482+8C>T (n.5482+8C>T)
c.4019+8C>T
c.6319+8C>T (n.6319+8C>T)
n.5475+8C>T
 dbSNP
14g.21393468G=CA2122505876CHD8c.5482+8C= (n.5482+8C=)
c.4019+8C=
c.6319+8C= (n.6319+8C=)
n.5475+8C=
14g.21393468G>TCA2624078659CHD8c.5482+8C>A (n.5482+8C>A)
c.4019+8C>A
c.6319+8C>A (n.6319+8C>A)
n.5475+8C>A
 gnomAD v4
14g.21393469C=CA2122505878CHD8c.5482+7G= (n.5482+7G=)
c.4019+7G=
c.6319+7G= (n.6319+7G=)
n.5475+7G=
14g.21393469C>TCA612384281CHD8c.5482+7G>A (n.5482+7G>A)
c.4019+7G>A
c.6319+7G>A (n.6319+7G>A)
n.5475+7G>A
 dbSNP gnomAD v2 gnomAD v4
14g.21393471C>ACA2624078660CHD8c.5482+5G>T (n.5482+5G>T)
c.4019+5G>T
c.6319+5G>T (n.6319+5G>T)
n.5475+5G>T
 gnomAD v4
14g.21393472T>CCA7090806CHD8c.5482+4A>G (n.5482+4A>G)
c.4019+4A>G
c.6319+4A>G (n.6319+4A>G)
n.5475+4A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393472T=CA2122505880CHD8c.5482+4A= (n.5482+4A=)
c.4019+4A=
c.6319+4A= (n.6319+4A=)
n.5475+4A=
14g.21393473C>ACA2624078668CHD8c.5482+3G>T (n.5482+3G>T)
c.4019+3G>T
c.6319+3G>T (n.6319+3G>T)
n.5475+3G>T
 gnomAD v4
14g.21393473C=CA2122505890CHD8c.5482+3G= (n.5482+3G=)
c.4019+3G=
c.6319+3G= (n.6319+3G=)
n.5475+3G=
14g.21393473C>TCA960920409CHD8c.5482+3G>A (n.5482+3G>A)
c.4019+3G>A
c.6319+3G>A (n.6319+3G>A)
n.5475+3G>A
 dbSNP gnomAD v3 gnomAD v4
14g.21393473_21393477delinsCACTTCA2122505885CHD8c.5481_5482+3delinsAAGTG
c.4018_4019+3delinsAAGTG
c.6318_6319+3delinsAAGTG
n.5474_5475+3delinsAAGTG
14g.21393474A>CCA388879680CHD8c.5482+2T>G (n.5482+2T>G)
c.4019+2T>G
c.6319+2T>G (n.6319+2T>G)
n.5475+2T>G
14g.21393474A>GCA388879681CHD8c.5482+2T>C (n.5482+2T>C)
c.4019+2T>C
c.6319+2T>C (n.6319+2T>C)
n.5475+2T>C
14g.21393474A>TCA388879683CHD8c.5482+2T>A (n.5482+2T>A)
c.4019+2T>A
c.6319+2T>A (n.6319+2T>A)
n.5475+2T>A
14g.21393475_21393478delCA612384282CHD8c.5481_5482+2del
c.4018_4019+2del
c.6318_6319+2del
n.5474_5475+2del
 dbSNP gnomAD v2 gnomAD v4
14g.21393475C>ACA388879685CHD8c.5482+1G>T (n.5482+1G>T)
c.4019+1G>T
c.6319+1G>T (n.6319+1G>T)
n.5475+1G>T
 gnomAD v4
14g.21393475C=CA2122505899CHD8c.5482+1G= (n.5482+1G=)
c.4019+1G=
c.6319+1G= (n.6319+1G=)
n.5475+1G=
14g.21393475C>GCA388879687CHD8c.5482+1G>C (n.5482+1G>C)
c.4019+1G>C
c.6319+1G>C (n.6319+1G>C)
n.5475+1G>C
14g.21393475C>TCA388879690CHD8c.5482+1G>A (n.5482+1G>A)
c.4019+1G>A
c.6319+1G>A (n.6319+1G>A)
n.5475+1G>A
 dbSNP gnomAD v2 gnomAD v4
14g.21393476T>ACA388879692CHD8c.5482A>T (p.Thr1828Ser)
c.4019A>T
c.6319A>T (p.Thr2107Ser)
n.5475A>T
14g.21393476T>CCA388879694CHD8c.5482A>G (p.Thr1828Ala)
c.4019A>G
c.6319A>G (p.Thr2107Ala)
n.5475A>G
 gnomAD v4
14g.21393476T>GCA388879696CHD8c.5482A>C (p.Thr1828Pro)
c.4019A>C
c.6319A>C (p.Thr2107Pro)
n.5475A>C
14g.21393477T>ACA484994681CHD8c.5481A>T (p.Leu1827=)
c.4018A>T
c.6318A>T (p.Leu2106=)
n.5474A>T
14g.21393477T>CCA484994682CHD8c.5481A>G (p.Leu1827=)
c.4018A>G
c.6318A>G (p.Leu2106=)
n.5474A>G
 ClinVar dbSNP gnomAD v4
14g.21393477T>GCA484994683CHD8c.5481A>C (p.Leu1827=)
c.4018A>C
c.6318A>C (p.Leu2106=)
n.5474A>C
 gnomAD v4
14g.21393477T=CA2122505901CHD8c.5481A= (p.Leu1827=)
c.4018A=
c.6318A= (p.Leu2106=)
n.5474A=
14g.21393478A>CCA388879700CHD8c.5480T>G (p.Leu1827Arg)
c.4017T>G
c.6317T>G (p.Leu2106Arg)
n.5473T>G
14g.21393478A>GCA388879702CHD8c.5480T>C (p.Leu1827Pro)
c.4017T>C
c.6317T>C (p.Leu2106Pro)
n.5473T>C
14g.21393478A>TCA388879704CHD8c.5480T>A (p.Leu1827Gln)
c.4017T>A
c.6317T>A (p.Leu2106Gln)
n.5473T>A
14g.21393479G>ACA484994687CHD8c.5479C>T (p.Leu1827=)
c.4016C>T
c.6316C>T (p.Leu2106=)
n.5472C>T
14g.21393479G>CCA388879706CHD8c.5479C>G (p.Leu1827Val)
c.4016C>G
c.6316C>G (p.Leu2106Val)
n.5472C>G
14g.21393479G>TCA388879708CHD8c.5479C>A (p.Leu1827Ile)
c.4016C>A
c.6316C>A (p.Leu2106Ile)
n.5472C>A
 gnomAD v4
14g.21393480C>ACA388879709CHD8c.5478G>T (p.Lys1826Asn)
c.4015G>T
c.6315G>T (p.Lys2105Asn)
n.5471G>T
 gnomAD v4
14g.21393480C=CA2122505905CHD8c.5478G= (p.Lys1826=)
c.4015G=
c.6315G= (p.Lys2105=)
n.5471G=
14g.21393480C>GCA388879711CHD8c.5478G>C (p.Lys1826Asn)
c.4015G>C
c.6315G>C (p.Lys2105Asn)
n.5471G>C
14g.21393480C>TCA257592832CHD8c.5478G>A (p.Lys1826=)
c.4015G>A
c.6315G>A (p.Lys2105=)
n.5471G>A
 ClinVar dbSNP
14g.21393481T>ACA388879715CHD8c.5477A>T (p.Lys1826Met)
c.4014A>T
c.6314A>T (p.Lys2105Met)
n.5470A>T
14g.21393481T>CCA388879717CHD8c.5477A>G (p.Lys1826Arg)
c.4014A>G
c.6314A>G (p.Lys2105Arg)
n.5470A>G
14g.21393481T>GCA388879719CHD8c.5477A>C (p.Lys1826Thr)
c.4014A>C
c.6314A>C (p.Lys2105Thr)
n.5470A>C
14g.21393482T>ACA388879721CHD8c.5476A>T (p.Lys1826Ter)
c.4013A>T
c.6313A>T (p.Lys2105Ter)
n.5469A>T
 dbSNP
14g.21393482T>CCA388879722CHD8c.5476A>G (p.Lys1826Glu)
c.4013A>G
c.6313A>G (p.Lys2105Glu)
n.5469A>G
14g.21393482T>GCA388879724CHD8c.5476A>C (p.Lys1826Gln)
c.4013A>C
c.6313A>C (p.Lys2105Gln)
n.5469A>C
14g.21393482T=CA2122505910CHD8c.5476A= (p.Lys1826=)
c.4013A=
c.6313A= (p.Lys2105=)
n.5469A=
14g.21393483C>ACA388879726CHD8c.5475G>T (p.Glu1825Asp)
c.4012G>T
c.6312G>T (p.Glu2104Asp)
n.5468G>T
14g.21393483C=CA2122505914CHD8c.5475G= (p.Glu1825=)
c.4012G=
c.6312G= (p.Glu2104=)
n.5468G=
14g.21393483C>GCA388879728CHD8c.5475G>C (p.Glu1825Asp)
c.4012G>C
c.6312G>C (p.Glu2104Asp)
n.5468G>C
14g.21393483C>TCA7090807CHD8c.5475G>A (p.Glu1825=)
c.4012G>A
c.6312G>A (p.Glu2104=)
n.5468G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393484T>ACA388879733CHD8c.5474A>T (p.Glu1825Val)
c.4011A>T
c.6311A>T (p.Glu2104Val)
n.5467A>T
14g.21393484T>CCA388879734CHD8c.5474A>G (p.Glu1825Gly)
c.4011A>G
c.6311A>G (p.Glu2104Gly)
n.5467A>G
14g.21393484T>GCA388879732CHD8c.5474A>C (p.Glu1825Ala)
c.4011A>C
c.6311A>C (p.Glu2104Ala)
n.5467A>C
 ClinVar dbSNP
14g.21393484_21393488delinsTCTTCCA2122505920CHD8c.5470_5474delinsGAAGA (p.Glu1824=)
c.4007_4011delinsGAAGA
c.6307_6311delinsGAAGA (p.Glu2103=)
n.5463_5467delinsGAAGA
14g.21393485C>ACA388879739CHD8c.5473G>T (p.Glu1825Ter)
c.4010G>T
c.6310G>T (p.Glu2104Ter)
n.5466G>T
 dbSNP COSMIC COSMIC
14g.21393485C=CA2122505925CHD8c.5473G= (p.Glu1825=)
c.4010G=
c.6310G= (p.Glu2104=)
n.5466G=
14g.21393485C>GCA388879736CHD8c.5473G>C (p.Glu1825Gln)
c.4010G>C
c.6310G>C (p.Glu2104Gln)
n.5466G>C
 gnomAD v4
14g.21393485C>TCA388879737CHD8c.5473G>A (p.Glu1825Lys)
c.4010G>A
c.6310G>A (p.Glu2104Lys)
n.5466G>A
 gnomAD v4
14g.21393489_21393492delCA658770505CHD8c.5470_5473del (p.Glu1824ArgfsTer3)
c.4007_4010del
c.6307_6310del (p.Glu2103ArgfsTer3)
n.5463_5466del
 ClinVar dbSNP
14g.21393486T>ACA388879740CHD8c.5472A>T (p.Glu1824Asp)
c.4009A>T
c.6309A>T (p.Glu2103Asp)
n.5465A>T
14g.21393486T>CCA484994696CHD8c.5472A>G (p.Glu1824=)
c.4009A>G
c.6309A>G (p.Glu2103=)
n.5465A>G
14g.21393486T>GCA388879741CHD8c.5472A>C (p.Glu1824Asp)
c.4009A>C
c.6309A>C (p.Glu2103Asp)
n.5465A>C
14g.21393487T>ACA388879744CHD8c.5471A>T (p.Glu1824Val)
c.4008A>T
c.6308A>T (p.Glu2103Val)
n.5464A>T
14g.21393487T>CCA388879745CHD8c.5471A>G (p.Glu1824Gly)
c.4008A>G
c.6308A>G (p.Glu2103Gly)
n.5464A>G
 dbSNP
14g.21393487T>GCA388879747CHD8c.5471A>C (p.Glu1824Ala)
c.4008A>C
c.6308A>C (p.Glu2103Ala)
n.5464A>C
14g.21393487T=CA2122505930CHD8c.5471A= (p.Glu1824=)
c.4008A=
c.6308A= (p.Glu2103=)
n.5464A=
14g.21393487_21393488delCA2695219070CHD8c.5470_5471del (p.Glu1824ArgfsTer5)
c.4007_4008del
c.6307_6308del (p.Glu2103ArgfsTer5)
n.5463_5464del
14g.21393488C>ACA388879750CHD8c.5470G>T (p.Glu1824Ter)
c.4007G>T
c.6307G>T (p.Glu2103Ter)
n.5463G>T
14g.21393488C>GCA388879752CHD8c.5470G>C (p.Glu1824Gln)
c.4007G>C
c.6307G>C (p.Glu2103Gln)
n.5463G>C
14g.21393488C>TCA388879753CHD8c.5470G>A (p.Glu1824Lys)
c.4007G>A
c.6307G>A (p.Glu2103Lys)
n.5463G>A
14g.21393489C>ACA388879754CHD8c.5469G>T (p.Lys1823Asn)
c.4006G>T
c.6306G>T (p.Lys2102Asn)
n.5462G>T
14g.21393489C>GCA388879755CHD8c.5469G>C (p.Lys1823Asn)
c.4006G>C
c.6306G>C (p.Lys2102Asn)
n.5462G>C
14g.21393489C>TCA484994700CHD8c.5469G>A (p.Lys1823=)
c.4006G>A
c.6306G>A (p.Lys2102=)
n.5462G>A
14g.21393491_21393493delCA2575477086CHD8c.5467_5469del (p.Lys1823del)
c.4004_4006del
c.6304_6306del (p.Lys2102del)
n.5460_5462del
14g.21393490T>ACA388879757CHD8c.5468A>T (p.Lys1823Met)
c.4005A>T
c.6305A>T (p.Lys2102Met)
n.5461A>T
14g.21393490T>CCA388879758CHD8c.5468A>G (p.Lys1823Arg)
c.4005A>G
c.6305A>G (p.Lys2102Arg)
n.5461A>G
14g.21393490T>GCA388879756CHD8c.5468A>C (p.Lys1823Thr)
c.4005A>C
c.6305A>C (p.Lys2102Thr)
n.5461A>C
14g.21393491T>ACA388879760CHD8c.5467A>T (p.Lys1823Ter)
c.4004A>T
c.6304A>T (p.Lys2102Ter)
n.5460A>T
14g.21393491T>CCA388879762CHD8c.5467A>G (p.Lys1823Glu)
c.4004A>G
c.6304A>G (p.Lys2102Glu)
n.5460A>G
14g.21393491T>GCA388879765CHD8c.5467A>C (p.Lys1823Gln)
c.4004A>C
c.6304A>C (p.Lys2102Gln)
n.5460A>C
14g.21393492C>ACA388879767CHD8c.5466G>T (p.Glu1822Asp)
c.4003G>T
c.6303G>T (p.Glu2101Asp)
n.5459G>T
 gnomAD v4
14g.21393492C>GCA388879769CHD8c.5466G>C (p.Glu1822Asp)
c.4003G>C
c.6303G>C (p.Glu2101Asp)
n.5459G>C
14g.21393492C>TCA484994703CHD8c.5466G>A (p.Glu1822=)
c.4003G>A
c.6303G>A (p.Glu2101=)
n.5459G>A
14g.21393493T>ACA388879773CHD8c.5465A>T (p.Glu1822Val)
c.4002A>T
c.6302A>T (p.Glu2101Val)
n.5458A>T
14g.21393493T>CCA388879770CHD8c.5465A>G (p.Glu1822Gly)
c.4002A>G
c.6302A>G (p.Glu2101Gly)
n.5458A>G
14g.21393493T>GCA388879772CHD8c.5465A>C (p.Glu1822Ala)
c.4002A>C
c.6302A>C (p.Glu2101Ala)
n.5458A>C
14g.21393494C>ACA388879774CHD8c.5464G>T (p.Glu1822Ter)
c.4001G>T
c.6301G>T (p.Glu2101Ter)
n.5457G>T
 dbSNP gnomAD v4
14g.21393494C=CA2122505934CHD8c.5464G= (p.Glu1822=)
c.4001G=
c.6301G= (p.Glu2101=)
n.5457G=
14g.21393494C>GCA388879775CHD8c.5464G>C (p.Glu1822Gln)
c.4001G>C
c.6301G>C (p.Glu2101Gln)
n.5457G>C
14g.21393494C>TCA388879776CHD8c.5464G>A (p.Glu1822Lys)
c.4001G>A
c.6301G>A (p.Glu2101Lys)
n.5457G>A
 gnomAD v4
14g.21393495A>CCA388879777CHD8c.5463T>G (p.Asp1821Glu)
c.4000T>G
c.6300T>G (p.Asp2100Glu)
n.5456T>G
14g.21393495A>GCA484994706CHD8c.5463T>C (p.Asp1821=)
c.4000T>C
c.6300T>C (p.Asp2100=)
n.5456T>C
14g.21393495A>TCA388879778CHD8c.5463T>A (p.Asp1821Glu)
c.4000T>A
c.6300T>A (p.Asp2100Glu)
n.5456T>A
14g.21393496T>ACA388879781CHD8c.5462A>T (p.Asp1821Val)
c.3999A>T
c.6299A>T (p.Asp2100Val)
n.5455A>T
14g.21393496T>CCA388879780CHD8c.5462A>G (p.Asp1821Gly)
c.3999A>G
c.6299A>G (p.Asp2100Gly)
n.5455A>G
14g.21393496T>GCA388879779CHD8c.5462A>C (p.Asp1821Ala)
c.3999A>C
c.6299A>C (p.Asp2100Ala)
n.5455A>C
14g.21393497C>ACA388879782CHD8c.5461G>T (p.Asp1821Tyr)
c.3998G>T
c.6298G>T (p.Asp2100Tyr)
n.5454G>T
 gnomAD v4
14g.21393497C>GCA388879783CHD8c.5461G>C (p.Asp1821His)
c.3998G>C
c.6298G>C (p.Asp2100His)
n.5454G>C
14g.21393497C>TCA388879784CHD8c.5461G>A (p.Asp1821Asn)
c.3998G>A
c.6298G>A (p.Asp2100Asn)
n.5454G>A
14g.21393498C>ACA388879785CHD8c.5460G>T (p.Glu1820Asp)
c.3997G>T
c.6297G>T (p.Glu2099Asp)
n.5453G>T
 gnomAD v4
14g.21393498C=CA2122505939CHD8c.5460G= (p.Glu1820=)
c.3997G=
c.6297G= (p.Glu2099=)
n.5453G=
14g.21393498C>GCA388879787CHD8c.5460G>C (p.Glu1820Asp)
c.3997G>C
c.6297G>C (p.Glu2099Asp)
n.5453G>C
14g.21393498C>TCA484994709CHD8c.5460G>A (p.Glu1820=)
c.3997G>A
c.6297G>A (p.Glu2099=)
n.5453G>A
 dbSNP gnomAD v2 gnomAD v4
14g.21393499T>ACA388879789CHD8c.5459A>T (p.Glu1820Val)
c.3996A>T
c.6296A>T (p.Glu2099Val)
n.5452A>T
14g.21393499T>CCA388879793CHD8c.5459A>G (p.Glu1820Gly)
c.3996A>G
c.6296A>G (p.Glu2099Gly)
n.5452A>G
 gnomAD v4
14g.21393499T>GCA388879795CHD8c.5459A>C (p.Glu1820Ala)
c.3996A>C
c.6296A>C (p.Glu2099Ala)
n.5452A>C
14g.21393500C>ACA388879797CHD8c.5458G>T (p.Glu1820Ter)
c.3995G>T
c.6295G>T (p.Glu2099Ter)
n.5451G>T
 dbSNP gnomAD v4
14g.21393500C=CA2122505947CHD8c.5458G= (p.Glu1820=)
c.3995G=
c.6295G= (p.Glu2099=)
n.5451G=
14g.21393500C>GCA388879799CHD8c.5458G>C (p.Glu1820Gln)
c.3995G>C
c.6295G>C (p.Glu2099Gln)
n.5451G>C
14g.21393500C>TCA388879801CHD8c.5458G>A (p.Glu1820Lys)
c.3995G>A
c.6295G>A (p.Glu2099Lys)
n.5451G>A
 ClinVar dbSNP
14g.21393501A>CCA388879803CHD8c.5457T>G (p.Ser1819Arg)
c.3994T>G
c.6294T>G (p.Ser2098Arg)
n.5450T>G
14g.21393501A>GCA484994712CHD8c.5457T>C (p.Ser1819=)
c.3994T>C
c.6294T>C (p.Ser2098=)
n.5450T>C
14g.21393501A>TCA388879806CHD8c.5457T>A (p.Ser1819Arg)
c.3994T>A
c.6294T>A (p.Ser2098Arg)
n.5450T>A
14g.21393502C>ACA388879812CHD8c.5456G>T (p.Ser1819Ile)
c.3993G>T
c.6293G>T (p.Ser2098Ile)
n.5449G>T
14g.21393502C=CA2122505964CHD8c.5456G= (p.Ser1819=)
c.3993G=
c.6293G= (p.Ser2098=)
n.5449G=
14g.21393502C>GCA388879808CHD8c.5456G>C (p.Ser1819Thr)
c.3993G>C
c.6293G>C (p.Ser2098Thr)
n.5449G>C
14g.21393502C>TCA388879810CHD8c.5456G>A (p.Ser1819Asn)
c.3993G>A
c.6293G>A (p.Ser2098Asn)
n.5449G>A
 dbSNP gnomAD v4
14g.21393503T>ACA388879814CHD8c.5455A>T (p.Ser1819Cys)
c.3992A>T
c.6292A>T (p.Ser2098Cys)
n.5448A>T
14g.21393503T>CCA388879822CHD8c.5455A>G (p.Ser1819Gly)
c.3992A>G
c.6292A>G (p.Ser2098Gly)
n.5448A>G
14g.21393503T>GCA388879824CHD8c.5455A>C (p.Ser1819Arg)
c.3992A>C
c.6292A>C (p.Ser2098Arg)
n.5448A>C
14g.21393504C>ACA388879828CHD8c.5454G>T (p.Glu1818Asp)
c.3991G>T
c.6291G>T (p.Glu2097Asp)
n.5447G>T
14g.21393504C>GCA388879830CHD8c.5454G>C (p.Glu1818Asp)
c.3991G>C
c.6291G>C (p.Glu2097Asp)
n.5447G>C
14g.21393504C>TCA484994717CHD8c.5454G>A (p.Glu1818=)
c.3991G>A
c.6291G>A (p.Glu2097=)
n.5447G>A
14g.21393505T>ACA388879832CHD8c.5453A>T (p.Glu1818Val)
c.3990A>T
c.6290A>T (p.Glu2097Val)
n.5446A>T
14g.21393505T>CCA388879834CHD8c.5453A>G (p.Glu1818Gly)
c.3990A>G
c.6290A>G (p.Glu2097Gly)
n.5446A>G
 dbSNP gnomAD v2 gnomAD v4
14g.21393505T>GCA388879836CHD8c.5453A>C (p.Glu1818Ala)
c.3990A>C
c.6290A>C (p.Glu2097Ala)
n.5446A>C
14g.21393505T=CA2122505968CHD8c.5453A= (p.Glu1818=)
c.3990A=
c.6290A= (p.Glu2097=)
n.5446A=
14g.21393506C>ACA388879839CHD8c.5452G>T (p.Glu1818Ter)
c.3989G>T
c.6289G>T (p.Glu2097Ter)
n.5445G>T
 gnomAD v4
14g.21393506C=CA2122505971CHD8c.5452G= (p.Glu1818=)
c.3989G=
c.6289G= (p.Glu2097=)
n.5445G=
14g.21393506C>GCA7090808CHD8c.5452G>C (p.Glu1818Gln)
c.3989G>C
c.6289G>C (p.Glu2097Gln)
n.5445G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393506C>TCA388879842CHD8c.5452G>A (p.Glu1818Lys)
c.3989G>A
c.6289G>A (p.Glu2097Lys)
n.5445G>A
 gnomAD v4 COSMIC
14g.21393507A=CA2122505974CHD8c.5451T= (p.Asp1817=)
c.3988T=
c.6288T= (p.Asp2096=)
n.5444T=
14g.21393507A>CCA388879845CHD8c.5451T>G (p.Asp1817Glu)
c.3988T>G
c.6288T>G (p.Asp2096Glu)
n.5444T>G
 gnomAD v4
14g.21393507A>GCA484994729CHD8c.5451T>C (p.Asp1817=)
c.3988T>C
c.6288T>C (p.Asp2096=)
n.5444T>C
 dbSNP gnomAD v3 gnomAD v4
14g.21393507A>TCA388879847CHD8c.5451T>A (p.Asp1817Glu)
c.3988T>A
c.6288T>A (p.Asp2096Glu)
n.5444T>A
 gnomAD v4
14g.21393508T>ACA388879854CHD8c.5450A>T (p.Asp1817Val)
c.3987A>T
c.6287A>T (p.Asp2096Val)
n.5443A>T
14g.21393508T>CCA388879852CHD8c.5450A>G (p.Asp1817Gly)
c.3987A>G
c.6287A>G (p.Asp2096Gly)
n.5443A>G
 gnomAD v4
14g.21393508T>GCA388879849CHD8c.5450A>C (p.Asp1817Ala)
c.3987A>C
c.6287A>C (p.Asp2096Ala)
n.5443A>C
14g.21393509C>ACA388879859CHD8c.5449G>T (p.Asp1817Tyr)
c.3986G>T
c.6286G>T (p.Asp2096Tyr)
n.5442G>T
14g.21393509C=CA2122505975CHD8c.5449G= (p.Asp1817=)
c.3986G=
c.6286G= (p.Asp2096=)
n.5442G=
14g.21393509C>GCA388879857CHD8c.5449G>C (p.Asp1817His)
c.3986G>C
c.6286G>C (p.Asp2096His)
n.5442G>C
14g.21393509C>TCA7090809CHD8c.5449G>A (p.Asp1817Asn)
c.3986G>A
c.6286G>A (p.Asp2096Asn)
n.5442G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21393510A>CCA484994732CHD8c.5448T>G (p.Thr1816=)
c.3985T>G
c.6285T>G (p.Thr2095=)
n.5441T>G
 gnomAD v4
14g.21393510A>GCA484994733CHD8c.5448T>C (p.Thr1816=)
c.3985T>C
c.6285T>C (p.Thr2095=)
n.5441T>C
 gnomAD v4
14g.21393510A>TCA484994735CHD8c.5448T>A (p.Thr1816=)
c.3985T>A
c.6285T>A (p.Thr2095=)
n.5441T>A
14g.21393511G>ACA7090810CHD8c.5447C>T (p.Thr1816Ile)
c.3984C>T
c.6284C>T (p.Thr2095Ile)
n.5440C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393511G>CCA388879865CHD8c.5447C>G (p.Thr1816Ser)
c.3984C>G
c.6284C>G (p.Thr2095Ser)
n.5440C>G
14g.21393511G=CA2122505978CHD8c.5447C= (p.Thr1816=)
c.3984C=
c.6284C= (p.Thr2095=)
n.5440C=
14g.21393511G>TCA388879863CHD8c.5447C>A (p.Thr1816Asn)
c.3984C>A
c.6284C>A (p.Thr2095Asn)
n.5440C>A
 gnomAD v4
14g.21393512T>ACA388879868CHD8c.5446A>T (p.Thr1816Ser)
c.3983A>T
c.6283A>T (p.Thr2095Ser)
n.5439A>T
14g.21393512T>CCA388879870CHD8c.5446A>G (p.Thr1816Ala)
c.3983A>G
c.6283A>G (p.Thr2095Ala)
n.5439A>G
14g.21393512T>GCA388879871CHD8c.5446A>C (p.Thr1816Pro)
c.3983A>C
c.6283A>C (p.Thr2095Pro)
n.5439A>C
14g.21393512_21393518delinsTGCTGGACA2122505982CHD8c.5440_5446delinsTCCAGCA (p.Ser1814=)
c.3977_3983delinsTCCAGCA
c.6277_6283delinsTCCAGCA (p.Ser2093=)
n.5433_5439delinsTCCAGCA
14g.21393513G>ACA484994744CHD8c.5445C>T (p.Ser1815=)
c.3982C>T
c.6282C>T (p.Ser2094=)
n.5438C>T
14g.21393513G>CCA388879876CHD8c.5445C>G (p.Ser1815Arg)
c.3982C>G
c.6282C>G (p.Ser2094Arg)
n.5438C>G
 dbSNP gnomAD v3 gnomAD v4
14g.21393513G=CA2122505987CHD8c.5445C= (p.Ser1815=)
c.3982C=
c.6282C= (p.Ser2094=)
n.5438C=
14g.21393513G>TCA388879878CHD8c.5445C>A (p.Ser1815Arg)
c.3982C>A
c.6282C>A (p.Ser2094Arg)
n.5438C>A
14g.21393525_21393530dupCA7090811CHD8c.5440_5445dup (p.Ser1815_Thr1816insSerSer)
c.3977_3982dup
c.6277_6282dup (p.Ser2094_Thr2095insSerSer)
n.5433_5438dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393525_21393530delCA704113388CHD8c.5440_5445del (p.Ser1814_Ser1815del)
c.3977_3982del
c.6277_6282del (p.Ser2093_Ser2094del)
n.5433_5438del
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.21393514C>ACA388879880CHD8c.5444G>T (p.Ser1815Ile)
c.3981G>T
c.6281G>T (p.Ser2094Ile)
n.5437G>T
14g.21393514C=CA2122505991CHD8c.5444G= (p.Ser1815=)
c.3981G=
c.6281G= (p.Ser2094=)
n.5437G=
14g.21393514C>GCA388879882CHD8c.5444G>C (p.Ser1815Thr)
c.3981G>C
c.6281G>C (p.Ser2094Thr)
n.5437G>C
14g.21393514C>TCA388879884CHD8c.5444G>A (p.Ser1815Asn)
c.3981G>A
c.6281G>A (p.Ser2094Asn)
n.5437G>A
 dbSNP gnomAD v2 gnomAD v4
14g.21393515T>ACA388879887CHD8c.5443A>T (p.Ser1815Cys)
c.3980A>T
c.6280A>T (p.Ser2094Cys)
n.5436A>T
14g.21393515T>CCA388879888CHD8c.5443A>G (p.Ser1815Gly)
c.3980A>G
c.6280A>G (p.Ser2094Gly)
n.5436A>G
 gnomAD v4
14g.21393515T>GCA388879889CHD8c.5443A>C (p.Ser1815Arg)
c.3980A>C
c.6280A>C (p.Ser2094Arg)
n.5436A>C
14g.21393516G>ACA484994752CHD8c.5442C>T (p.Ser1814=)
c.3979C>T
c.6279C>T (p.Ser2093=)
n.5435C>T
 dbSNP gnomAD v2 gnomAD v4
14g.21393516G>CCA484994754CHD8c.5442C>G (p.Ser1814=)
c.3979C>G
c.6279C>G (p.Ser2093=)
n.5435C>G
14g.21393516G=CA2122505993CHD8c.5442C= (p.Ser1814=)
c.3979C=
c.6279C= (p.Ser2093=)
n.5435C=
14g.21393516G>TCA484994753CHD8c.5442C>A (p.Ser1814=)
c.3979C>A
c.6279C>A (p.Ser2093=)
n.5435C>A
14g.21393517G>ACA388879895CHD8c.5441C>T (p.Ser1814Phe)
c.3978C>T
c.6278C>T (p.Ser2093Phe)
n.5434C>T
 gnomAD v4
14g.21393517G>CCA388879891CHD8c.5441C>G (p.Ser1814Cys)
c.3978C>G
c.6278C>G (p.Ser2093Cys)
n.5434C>G
 dbSNP gnomAD v4
14g.21393517G=CA2122505996CHD8c.5441C= (p.Ser1814=)
c.3978C=
c.6278C= (p.Ser2093=)
n.5434C=
14g.21393517G>TCA388879893CHD8c.5441C>A (p.Ser1814Tyr)
c.3978C>A
c.6278C>A (p.Ser2093Tyr)
n.5434C>A
14g.21393518A=CA2122505999CHD8c.5440T= (p.Ser1814=)
c.3977T=
c.6277T= (p.Ser2093=)
n.5433T=
14g.21393518A>CCA388879897CHD8c.5440T>G (p.Ser1814Ala)
c.3977T>G
c.6277T>G (p.Ser2093Ala)
n.5433T>G
14g.21393518A>GCA388879899CHD8c.5440T>C (p.Ser1814Pro)
c.3977T>C
c.6277T>C (p.Ser2093Pro)
n.5433T>C
 dbSNP gnomAD v2
14g.21393518A>TCA388879901CHD8c.5440T>A (p.Ser1814Thr)
c.3977T>A
c.6277T>A (p.Ser2093Thr)
n.5433T>A
14g.21393519G>ACA484994759CHD8c.5439C>T (p.Ser1813=)
c.3976C>T
c.6276C>T (p.Ser2092=)
n.5432C>T
14g.21393519G>CCA388879903CHD8c.5439C>G (p.Ser1813Arg)
c.3976C>G
c.6276C>G (p.Ser2092Arg)
n.5432C>G
14g.21393519G>TCA388879905CHD8c.5439C>A (p.Ser1813Arg)
c.3976C>A
c.6276C>A (p.Ser2092Arg)
n.5432C>A
14g.21393520C>ACA388879924CHD8c.5438G>T (p.Ser1813Ile)
c.3975G>T
c.6275G>T (p.Ser2092Ile)
n.5431G>T
14g.21393520C>GCA388879925CHD8c.5438G>C (p.Ser1813Thr)
c.3975G>C
c.6275G>C (p.Ser2092Thr)
n.5431G>C
14g.21393520C>TCA388879928CHD8c.5438G>A (p.Ser1813Asn)
c.3975G>A
c.6275G>A (p.Ser2092Asn)
n.5431G>A
14g.21393521T>ACA388879931CHD8c.5437A>T (p.Ser1813Cys)
c.3974A>T
c.6274A>T (p.Ser2092Cys)
n.5430A>T
14g.21393521T>CCA388879933CHD8c.5437A>G (p.Ser1813Gly)
c.3974A>G
c.6274A>G (p.Ser2092Gly)
n.5430A>G
14g.21393521T>GCA388879935CHD8c.5437A>C (p.Ser1813Arg)
c.3974A>C
c.6274A>C (p.Ser2092Arg)
n.5430A>C
14g.21393522G>ACA484994765CHD8c.5436C>T (p.Ser1812=)
c.3973C>T
c.6273C>T (p.Ser2091=)
n.5429C>T
 gnomAD v4
14g.21393522G>CCA484994767CHD8c.5436C>G (p.Ser1812=)
c.3973C>G
c.6273C>G (p.Ser2091=)
n.5429C>G
14g.21393522G>TCA484994768CHD8c.5436C>A (p.Ser1812=)
c.3973C>A
c.6273C>A (p.Ser2091=)
n.5429C>A
 gnomAD v4
14g.21393523G>ACA388879938CHD8c.5435C>T (p.Ser1812Phe)
c.3972C>T
c.6272C>T (p.Ser2091Phe)
n.5428C>T
14g.21393523G>CCA388879937CHD8c.5435C>G (p.Ser1812Cys)
c.3972C>G
c.6272C>G (p.Ser2091Cys)
n.5428C>G
14g.21393523G>TCA388879936CHD8c.5435C>A (p.Ser1812Tyr)
c.3972C>A
c.6272C>A (p.Ser2091Tyr)
n.5428C>A
 gnomAD v4
14g.21393524A>CCA388879940CHD8c.5434T>G (p.Ser1812Ala)
c.3971T>G
c.6271T>G (p.Ser2091Ala)
n.5427T>G
14g.21393524A>GCA388879941CHD8c.5434T>C (p.Ser1812Pro)
c.3971T>C
c.6271T>C (p.Ser2091Pro)
n.5427T>C
14g.21393524A>TCA388879943CHD8c.5434T>A (p.Ser1812Thr)
c.3971T>A
c.6271T>A (p.Ser2091Thr)
n.5427T>A
14g.21393525delCA2695219071CHD8c.5433del (p.Ser1812ProfsTer16)
c.3970del
c.6270del (p.Ser2091ProfsTer16)
n.5426del
14g.21393525G>ACA484994774CHD8c.5433C>T (p.Ser1811=)
c.3970C>T
c.6270C>T (p.Ser2090=)
n.5426C>T
14g.21393525G>CCA388879947CHD8c.5433C>G (p.Ser1811Arg)
c.3970C>G
c.6270C>G (p.Ser2090Arg)
n.5426C>G
14g.21393525G>TCA388879948CHD8c.5433C>A (p.Ser1811Arg)
c.3970C>A
c.6270C>A (p.Ser2090Arg)
n.5426C>A
 gnomAD v4
14g.21393525_21393526delCA2624078743CHD8c.5432_5433del (p.Ser1811IlefsTer6)
c.3969_3970del
c.6269_6270del (p.Ser2090IlefsTer6)
n.5425_5426del
 gnomAD v4
14g.21393526C>ACA388879949CHD8c.5432G>T (p.Ser1811Ile)
c.3969G>T
c.6269G>T (p.Ser2090Ile)
n.5425G>T
14g.21393526C=CA2122506001CHD8c.5432G= (p.Ser1811=)
c.3969G=
c.6269G= (p.Ser2090=)
n.5425G=
14g.21393526C>GCA257592867CHD8c.5432G>C (p.Ser1811Thr)
c.3969G>C
c.6269G>C (p.Ser2090Thr)
n.5425G>C
 dbSNP gnomAD v3 gnomAD v4
14g.21393526C>TCA388879950CHD8c.5432G>A (p.Ser1811Asn)
c.3969G>A
c.6269G>A (p.Ser2090Asn)
n.5425G>A
 ClinVar
14g.21393527T>ACA388879952CHD8c.5431A>T (p.Ser1811Cys)
c.3968A>T
c.6268A>T (p.Ser2090Cys)
n.5424A>T
14g.21393527T>CCA388879954CHD8c.5431A>G (p.Ser1811Gly)
c.3968A>G
c.6268A>G (p.Ser2090Gly)
n.5424A>G
 gnomAD v4
14g.21393527T>GCA388879956CHD8c.5431A>C (p.Ser1811Arg)
c.3968A>C
c.6268A>C (p.Ser2090Arg)
n.5424A>C
14g.21393527_21393533delinsTGGATGACA2122506004CHD8c.5425_5431delinsTCATCCA (p.Ser1809=)
c.3962_3968delinsTCATCCA
c.6262_6268delinsTCATCCA (p.Ser2088=)
n.5418_5424delinsTCATCCA
14g.21393528G>ACA7090813CHD8c.5430C>T (p.Ser1810=)
c.3967C>T
c.6267C>T (p.Ser2089=)
n.5423C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21393528G>CCA484994780CHD8c.5430C>G (p.Ser1810=)
c.3967C>G
c.6267C>G (p.Ser2089=)
n.5423C>G
 gnomAD v4
14g.21393528G=CA2122506006CHD8c.5430C= (p.Ser1810=)
c.3967C=
c.6267C= (p.Ser2089=)
n.5423C=
14g.21393528G>TCA484994779CHD8c.5430C>A (p.Ser1810=)
c.3967C>A
c.6267C>A (p.Ser2089=)
n.5423C>A
 gnomAD v4
14g.21393528_21393529insAGCA2624078744CHD8c.5430_5431insTC (p.Ser1812AlafsTer17)
c.3967_3968insTC
c.6267_6268insTC (p.Ser2091AlafsTer17)
n.5423_5424insTC
 gnomAD v4
14g.21393537_21393542delCA7090812CHD8c.5425_5430del (p.Ser1809_Ser1810del)
c.3962_3967del
c.6262_6267del (p.Ser2088_Ser2089del)
n.5418_5423del
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21393529G>ACA388879959CHD8c.5429C>T (p.Ser1810Phe)
c.3966C>T
c.6266C>T (p.Ser2089Phe)
n.5422C>T
14g.21393529G>CCA388879957CHD8c.5429C>G (p.Ser1810Cys)
c.3966C>G
c.6266C>G (p.Ser2089Cys)
n.5422C>G
14g.21393529G>TCA388879958CHD8c.5429C>A (p.Ser1810Tyr)
c.3966C>A
c.6266C>A (p.Ser2089Tyr)
n.5422C>A
14g.21393530A>CCA388879960CHD8c.5428T>G (p.Ser1810Ala)
c.3965T>G
c.6265T>G (p.Ser2089Ala)
n.5421T>G
14g.21393530A>GCA388879961CHD8c.5428T>C (p.Ser1810Pro)
c.3965T>C
c.6265T>C (p.Ser2089Pro)
n.5421T>C
14g.21393530A>TCA388879962CHD8c.5428T>A (p.Ser1810Thr)
c.3965T>A
c.6265T>A (p.Ser2089Thr)
n.5421T>A
14g.21393531T>ACA484994782CHD8c.5427A>T (p.Ser1809=)
c.3964A>T
c.6264A>T (p.Ser2088=)
n.5420A>T
 gnomAD v4
14g.21393531T>CCA484994783CHD8c.5427A>G (p.Ser1809=)
c.3964A>G
c.6264A>G (p.Ser2088=)
n.5420A>G
14g.21393531T>GCA7090814CHD8c.5427A>C (p.Ser1809=)
c.3964A>C
c.6264A>C (p.Ser2088=)
n.5420A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393531T=CA2122506008CHD8c.5427A= (p.Ser1809=)
c.3964A=
c.6264A= (p.Ser2088=)
n.5420A=
14g.21393532G>ACA388879964CHD8c.5426C>T (p.Ser1809Leu)
c.3963C>T
c.6263C>T (p.Ser2088Leu)
n.5419C>T
14g.21393532G>CCA388879966CHD8c.5426C>G (p.Ser1809Ter)
c.3963C>G
c.6263C>G (p.Ser2088Ter)
n.5419C>G
14g.21393532G>TCA388879968CHD8c.5426C>A (p.Ser1809Ter)
c.3963C>A
c.6263C>A (p.Ser2088Ter)
n.5419C>A
 gnomAD v4
14g.21393533A>CCA388879971CHD8c.5425T>G (p.Ser1809Ala)
c.3962T>G
c.6262T>G (p.Ser2088Ala)
n.5418T>G
 COSMIC COSMIC
14g.21393533A>GCA388879973CHD8c.5425T>C (p.Ser1809Pro)
c.3962T>C
c.6262T>C (p.Ser2088Pro)
n.5418T>C
14g.21393533A>TCA388879974CHD8c.5425T>A (p.Ser1809Thr)
c.3962T>A
c.6262T>A (p.Ser2088Thr)
n.5418T>A
14g.21393534G>ACA7090815CHD8c.5424C>T (p.Ser1808=)
c.3961C>T
c.6261C>T (p.Ser2087=)
n.5417C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.21393534G>CCA484994789CHD8c.5424C>G (p.Ser1808=)
c.3961C>G
c.6261C>G (p.Ser2087=)
n.5417C>G
 gnomAD v4
14g.21393534G=CA2122506011CHD8c.5424C= (p.Ser1808=)
c.3961C=
c.6261C= (p.Ser2087=)
n.5417C=
14g.21393534G>TCA484994791CHD8c.5424C>A (p.Ser1808=)
c.3961C>A
c.6261C>A (p.Ser2087=)
n.5417C>A
 dbSNP gnomAD v4
14g.21393535G>ACA388879983CHD8c.5423C>T (p.Ser1808Phe)
c.3960C>T
c.6260C>T (p.Ser2087Phe)
n.5416C>T
14g.21393535G>CCA388879982CHD8c.5423C>G (p.Ser1808Cys)
c.3960C>G
c.6260C>G (p.Ser2087Cys)
n.5416C>G
14g.21393535G>TCA388879981CHD8c.5423C>A (p.Ser1808Tyr)
c.3960C>A
c.6260C>A (p.Ser2087Tyr)
n.5416C>A
 gnomAD v4
14g.21393536A>CCA388879985CHD8c.5422T>G (p.Ser1808Ala)
c.3959T>G
c.6259T>G (p.Ser2087Ala)
n.5415T>G
14g.21393536A>GCA388879987CHD8c.5422T>C (p.Ser1808Pro)
c.3959T>C
c.6259T>C (p.Ser2087Pro)
n.5415T>C
14g.21393536A>TCA388879989CHD8c.5422T>A (p.Ser1808Thr)
c.3959T>A
c.6259T>A (p.Ser2087Thr)
n.5415T>A
14g.21393537T>ACA484994796CHD8c.5421A>T (p.Ser1807=)
c.3958A>T
c.6258A>T (p.Ser2086=)
n.5414A>T
14g.21393537T>CCA7090816CHD8c.5421A>G (p.Ser1807=)
c.3958A>G
c.6258A>G (p.Ser2086=)
n.5414A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21393537T>GCA484994798CHD8c.5421A>C (p.Ser1807=)
c.3958A>C
c.6258A>C (p.Ser2086=)
n.5414A>C
14g.21393537T=CA2122506013CHD8c.5421A= (p.Ser1807=)
c.3958A=
c.6258A= (p.Ser2086=)
n.5414A=
14g.21393538G>ACA388879992CHD8c.5420C>T (p.Ser1807Leu)
c.3957C>T
c.6257C>T (p.Ser2086Leu)
n.5413C>T
 dbSNP
14g.21393538G>CCA388879994CHD8c.5420C>G (p.Ser1807Ter)
c.3957C>G
c.6257C>G (p.Ser2086Ter)
n.5413C>G
14g.21393538G=CA2122506015CHD8c.5420C= (p.Ser1807=)
c.3957C=
c.6257C= (p.Ser2086=)
n.5413C=
14g.21393538G>TCA388879995CHD8c.5420C>A (p.Ser1807Ter)
c.3957C>A
c.6257C>A (p.Ser2086Ter)
n.5413C>A
14g.21393539A>CCA388879996CHD8c.5419T>G (p.Ser1807Ala)
c.3956T>G
c.6256T>G (p.Ser2086Ala)
n.5412T>G
14g.21393539A>GCA388880000CHD8c.5419T>C (p.Ser1807Pro)
c.3956T>C
c.6256T>C (p.Ser2086Pro)
n.5412T>C
14g.21393539A>TCA388879998CHD8c.5419T>A (p.Ser1807Thr)
c.3956T>A
c.6256T>A (p.Ser2086Thr)
n.5412T>A
14g.21393540G>ACA484994806CHD8c.5418C>T (p.Ser1806=)
c.3955C>T
c.6255C>T (p.Ser2085=)
n.5411C>T
 gnomAD v4
14g.21393540G>CCA484994804CHD8c.5418C>G (p.Ser1806=)
c.3955C>G
c.6255C>G (p.Ser2085=)
n.5411C>G
 gnomAD v4
14g.21393540G>TCA484994805CHD8c.5418C>A (p.Ser1806=)
c.3955C>A
c.6255C>A (p.Ser2085=)
n.5411C>A
14g.21393540_21393543delinsGGAACA2122506018CHD8c.5415_5418delinsTTCC (p.Ser1805=)
c.3952_3955delinsTTCC
c.6252_6255delinsTTCC (p.Ser2084=)
n.5408_5411delinsTTCC
14g.21393541G>ACA388880004CHD8c.5417C>T (p.Ser1806Phe)
c.3954C>T
c.6254C>T (p.Ser2085Phe)
n.5410C>T
14g.21393541G>CCA388880010CHD8c.5417C>G (p.Ser1806Cys)
c.3954C>G
c.6254C>G (p.Ser2085Cys)
n.5410C>G
14g.21393541G>TCA388880011CHD8c.5417C>A (p.Ser1806Tyr)
c.3954C>A
c.6254C>A (p.Ser2085Tyr)
n.5410C>A
14g.21393552_21393554dupCA2122506021CHD8c.5415_5417dup (p.Ser1806_Ser1807insSer)
c.3952_3954dup
c.6252_6254dup (p.Ser2085_Ser2086insSer)
n.5408_5410dup
 dbSNP gnomAD v4
14g.21393549_21393554dupCA2575477092CHD8c.5412_5417dup (p.Ser1806_Ser1807insSerSer)
c.3949_3954dup
c.6249_6254dup (p.Ser2085_Ser2086insSerSer)
n.5405_5410dup
 gnomAD v4
14g.21393552_21393554delCA7090817CHD8c.5415_5417del (p.Ser1806del)
c.3952_3954del
c.6252_6254del (p.Ser2085del)
n.5408_5410del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393542A>CCA388880020CHD8c.5416T>G (p.Ser1806Ala)
c.3953T>G
c.6253T>G (p.Ser2085Ala)
n.5409T>G
14g.21393542A>GCA388880016CHD8c.5416T>C (p.Ser1806Pro)
c.3953T>C
c.6253T>C (p.Ser2085Pro)
n.5409T>C
14g.21393542A>TCA388880018CHD8c.5416T>A (p.Ser1806Thr)
c.3953T>A
c.6253T>A (p.Ser2085Thr)
n.5409T>A
14g.21393543A>CCA484994808CHD8c.5415T>G (p.Ser1805=)
c.3952T>G
c.6252T>G (p.Ser2084=)
n.5408T>G
14g.21393543A>GCA484994810CHD8c.5415T>C (p.Ser1805=)
c.3952T>C
c.6252T>C (p.Ser2084=)
n.5408T>C
14g.21393543A>TCA484994811CHD8c.5415T>A (p.Ser1805=)
c.3952T>A
c.6252T>A (p.Ser2084=)
n.5408T>A
14g.21393544G>ACA388880022CHD8c.5414C>T (p.Ser1805Phe)
c.3951C>T
c.6251C>T (p.Ser2084Phe)
n.5407C>T
 dbSNP gnomAD v2
14g.21393544G>CCA388880024CHD8c.5414C>G (p.Ser1805Cys)
c.3951C>G
c.6251C>G (p.Ser2084Cys)
n.5407C>G
 dbSNP gnomAD v2 gnomAD v4
14g.21393544G=CA2122506023CHD8c.5414C= (p.Ser1805=)
c.3951C=
c.6251C= (p.Ser2084=)
n.5407C=
14g.21393544G>TCA388880025CHD8c.5414C>A (p.Ser1805Tyr)
c.3951C>A
c.6251C>A (p.Ser2084Tyr)
n.5407C>A
14g.21393545A>CCA388880028CHD8c.5413T>G (p.Ser1805Ala)
c.3950T>G
c.6250T>G (p.Ser2084Ala)
n.5406T>G
14g.21393545A>GCA388880030CHD8c.5413T>C (p.Ser1805Pro)
c.3950T>C
c.6250T>C (p.Ser2084Pro)
n.5406T>C
14g.21393545A>TCA388880031CHD8c.5413T>A (p.Ser1805Thr)
c.3950T>A
c.6250T>A (p.Ser2084Thr)
n.5406T>A
14g.21393546A>CCA484994820CHD8c.5412T>G (p.Ser1804=)
c.3949T>G
c.6249T>G (p.Ser2083=)
n.5405T>G
14g.21393546A>GCA484994821CHD8c.5412T>C (p.Ser1804=)
c.3949T>C
c.6249T>C (p.Ser2083=)
n.5405T>C
14g.21393546A>TCA484994822CHD8c.5412T>A (p.Ser1804=)
c.3949T>A
c.6249T>A (p.Ser2083=)
n.5405T>A
14g.21393547G>ACA7090818CHD8c.5411C>T (p.Ser1804Phe)
c.3948C>T
c.6248C>T (p.Ser2083Phe)
n.5404C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
14g.21393547G>CCA388880034CHD8c.5411C>G (p.Ser1804Cys)
c.3948C>G
c.6248C>G (p.Ser2083Cys)
n.5404C>G
14g.21393547G=CA2122506027CHD8c.5411C= (p.Ser1804=)
c.3948C=
c.6248C= (p.Ser2083=)
n.5404C=
14g.21393547G>TCA388880036CHD8c.5411C>A (p.Ser1804Tyr)
c.3948C>A
c.6248C>A (p.Ser2083Tyr)
n.5404C>A
14g.21393548A=CA2122506030CHD8c.5410T= (p.Ser1804=)
c.3947T=
c.6247T= (p.Ser2083=)
n.5403T=
14g.21393548A>CCA388880039CHD8c.5410T>G (p.Ser1804Ala)
c.3947T>G
c.6247T>G (p.Ser2083Ala)
n.5403T>G
14g.21393548A>GCA257592937CHD8c.5410T>C (p.Ser1804Pro)
c.3947T>C
c.6247T>C (p.Ser2083Pro)
n.5403T>C
 dbSNP gnomAD v4
14g.21393548A>TCA388880043CHD8c.5410T>A (p.Ser1804Thr)
c.3947T>A
c.6247T>A (p.Ser2083Thr)
n.5403T>A
14g.21393549A>CCA484994833CHD8c.5409T>G (p.Ser1803=)
c.3946T>G
c.6246T>G (p.Ser2082=)
n.5402T>G
14g.21393549A>GCA484994831CHD8c.5409T>C (p.Ser1803=)
c.3946T>C
c.6246T>C (p.Ser2082=)
n.5402T>C
14g.21393549A>TCA484994832CHD8c.5409T>A (p.Ser1803=)
c.3946T>A
c.6246T>A (p.Ser2082=)
n.5402T>A
14g.21393550G>ACA388880045CHD8c.5408C>T (p.Ser1803Phe)
c.3945C>T
c.6245C>T (p.Ser2082Phe)
n.5401C>T
14g.21393550G>CCA388880049CHD8c.5408C>G (p.Ser1803Cys)
c.3945C>G
c.6245C>G (p.Ser2082Cys)
n.5401C>G
14g.21393550G=CA2122506033CHD8c.5408C= (p.Ser1803=)
c.3945C=
c.6245C= (p.Ser2082=)
n.5401C=
14g.21393550G>TCA257592950CHD8c.5408C>A (p.Ser1803Tyr)
c.3945C>A
c.6245C>A (p.Ser2082Tyr)
n.5401C>A
 dbSNP
14g.21393551A>CCA388880056CHD8c.5407T>G (p.Ser1803Ala)
c.3944T>G
c.6244T>G (p.Ser2082Ala)
n.5400T>G
14g.21393551A>GCA388880058CHD8c.5407T>C (p.Ser1803Pro)
c.3944T>C
c.6244T>C (p.Ser2082Pro)
n.5400T>C
 gnomAD v4
14g.21393551A>TCA388880061CHD8c.5407T>A (p.Ser1803Thr)
c.3944T>A
c.6244T>A (p.Ser2082Thr)
n.5400T>A
14g.21393552A=CA2122506036CHD8c.5406T= (p.Ser1802=)
c.3943T=
c.6243T= (p.Ser2081=)
n.5399T=
14g.21393552A>CCA484994836CHD8c.5406T>G (p.Ser1802=)
c.3943T>G
c.6243T>G (p.Ser2081=)
n.5399T>G
14g.21393552A>GCA484994838CHD8c.5406T>C (p.Ser1802=)
c.3943T>C
c.6243T>C (p.Ser2081=)
n.5399T>C
14g.21393552A>TCA7090819CHD8c.5406T>A (p.Ser1802=)
c.3943T>A
c.6243T>A (p.Ser2081=)
n.5399T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393553G>ACA388880064CHD8c.5405C>T (p.Ser1802Phe)
c.3942C>T
c.6242C>T (p.Ser2081Phe)
n.5398C>T
14g.21393553G>CCA388880066CHD8c.5405C>G (p.Ser1802Cys)
c.3942C>G
c.6242C>G (p.Ser2081Cys)
n.5398C>G
14g.21393553G>TCA388880067CHD8c.5405C>A (p.Ser1802Tyr)
c.3942C>A
c.6242C>A (p.Ser2081Tyr)
n.5398C>A
14g.21393554A>CCA388880068CHD8c.5404T>G (p.Ser1802Ala)
c.3941T>G
c.6241T>G (p.Ser2081Ala)
n.5397T>G
14g.21393554A>GCA388880069CHD8c.5404T>C (p.Ser1802Pro)
c.3941T>C
c.6241T>C (p.Ser2081Pro)
n.5397T>C
14g.21393554A>TCA388880071CHD8c.5404T>A (p.Ser1802Thr)
c.3941T>A
c.6241T>A (p.Ser2081Thr)
n.5397T>A
14g.21393555T>ACA484994841CHD8c.5403A>T (p.Pro1801=)
c.3940A>T
c.6240A>T (p.Pro2080=)
n.5396A>T
14g.21393555T>CCA484994843CHD8c.5403A>G (p.Pro1801=)
c.3940A>G
c.6240A>G (p.Pro2080=)
n.5396A>G
 ClinVar gnomAD v4
14g.21393555T>GCA484994845CHD8c.5403A>C (p.Pro1801=)
c.3940A>C
c.6240A>C (p.Pro2080=)
n.5396A>C
14g.21393556G>ACA388880074CHD8c.5402C>T (p.Pro1801Leu)
c.3939C>T
c.6239C>T (p.Pro2080Leu)
n.5395C>T
14g.21393556G>CCA388880075CHD8c.5402C>G (p.Pro1801Arg)
c.3939C>G
c.6239C>G (p.Pro2080Arg)
n.5395C>G
14g.21393556G>TCA388880078CHD8c.5402C>A (p.Pro1801Gln)
c.3939C>A
c.6239C>A (p.Pro2080Gln)
n.5395C>A
14g.21393557G>ACA388880086CHD8c.5401C>T (p.Pro1801Ser)
c.3938C>T
c.6238C>T (p.Pro2080Ser)
n.5394C>T
14g.21393557G>CCA388880081CHD8c.5401C>G (p.Pro1801Ala)
c.3938C>G
c.6238C>G (p.Pro2080Ala)
n.5394C>G
14g.21393557G>TCA388880083CHD8c.5401C>A (p.Pro1801Thr)
c.3938C>A
c.6238C>A (p.Pro2080Thr)
n.5394C>A
14g.21393558T>ACA484994851CHD8c.5400A>T (p.Ser1800=)
c.3937A>T
c.6237A>T (p.Ser2079=)
n.5393A>T
14g.21393558T>CCA484994853CHD8c.5400A>G (p.Ser1800=)
c.3937A>G
c.6237A>G (p.Ser2079=)
n.5393A>G
 dbSNP gnomAD v2 gnomAD v4
14g.21393558T>GCA484994852CHD8c.5400A>C (p.Ser1800=)
c.3937A>C
c.6237A>C (p.Ser2079=)
n.5393A>C
14g.21393558T=CA2122506039CHD8c.5400A= (p.Ser1800=)
c.3937A=
c.6237A= (p.Ser2079=)
n.5393A=
14g.21393559G>ACA388880088CHD8c.5399C>T (p.Ser1800Leu)
c.3936C>T
c.6236C>T (p.Ser2079Leu)
n.5392C>T
14g.21393559G>CCA388880090CHD8c.5399C>G (p.Ser1800Ter)
c.3936C>G
c.6236C>G (p.Ser2079Ter)
n.5392C>G
 COSMIC COSMIC
14g.21393559G>TCA388880092CHD8c.5399C>A (p.Ser1800Ter)
c.3936C>A
c.6236C>A (p.Ser2079Ter)
n.5392C>A

Number of alleles fetched