Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.71441208C>ACA6162516DHCR7c.626+19G>T (n.626+19G>T)
c.452+19G>T (n.452+19G>T)
c.662+19G>T (n.662+19G>T)
n.922G>T
c.41+19G>T (n.41+19G>T)
c.530+19G>T (n.530+19G>T)
n.121+19G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71441208C=CA1981489675DHCR7c.626+19G= (n.626+19G=)
c.452+19G= (n.452+19G=)
c.662+19G= (n.662+19G=)
n.922G=
c.41+19G= (n.41+19G=)
c.530+19G= (n.530+19G=)
n.121+19G=
11g.71441208C>TCA6162517DHCR7c.626+19G>A (n.626+19G>A)
c.452+19G>A (n.452+19G>A)
c.662+19G>A (n.662+19G>A)
n.922G>A
c.41+19G>A (n.41+19G>A)
c.530+19G>A (n.530+19G>A)
n.121+19G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71441209C>ACA6162518DHCR7c.626+18G>T (n.626+18G>T)
c.452+18G>T (n.452+18G>T)
c.662+18G>T (n.662+18G>T)
n.921G>T
c.41+18G>T (n.41+18G>T)
c.530+18G>T (n.530+18G>T)
n.121+18G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.71441209C=CA1981489676DHCR7c.626+18G= (n.626+18G=)
c.452+18G= (n.452+18G=)
c.662+18G= (n.662+18G=)
n.921G=
c.41+18G= (n.41+18G=)
c.530+18G= (n.530+18G=)
n.121+18G=
11g.71441210C=CA1981489677DHCR7c.626+17G= (n.626+17G=)
c.452+17G= (n.452+17G=)
c.662+17G= (n.662+17G=)
n.920G=
c.41+17G= (n.41+17G=)
c.530+17G= (n.530+17G=)
n.121+17G=
11g.71441210C>TCA6162519DHCR7c.626+17G>A (n.626+17G>A)
c.452+17G>A (n.452+17G>A)
c.662+17G>A (n.662+17G>A)
n.920G>A
c.41+17G>A (n.41+17G>A)
c.530+17G>A (n.530+17G>A)
n.121+17G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71441211G>ACA6162520DHCR7c.626+16C>T (n.626+16C>T)
c.452+16C>T (n.452+16C>T)
c.662+16C>T (n.662+16C>T)
n.919C>T
c.41+16C>T (n.41+16C>T)
c.530+16C>T (n.530+16C>T)
n.121+16C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71441211G>CCA2614860388DHCR7c.626+16C>G (n.626+16C>G)
c.452+16C>G (n.452+16C>G)
c.662+16C>G (n.662+16C>G)
n.919C>G
c.41+16C>G (n.41+16C>G)
c.530+16C>G (n.530+16C>G)
n.121+16C>G
 gnomAD v4
11g.71441211G=CA1981489678DHCR7c.626+16C= (n.626+16C=)
c.452+16C= (n.452+16C=)
c.662+16C= (n.662+16C=)
n.919C=
c.41+16C= (n.41+16C=)
c.530+16C= (n.530+16C=)
n.121+16C=
11g.71441211G>TCA2511499723DHCR7c.626+16C>A (n.626+16C>A)
c.452+16C>A (n.452+16C>A)
c.662+16C>A (n.662+16C>A)
n.919C>A
c.41+16C>A (n.41+16C>A)
c.530+16C>A (n.530+16C>A)
n.121+16C>A
 ClinVar
11g.71441212C>ACA2581031621DHCR7c.626+15G>T (n.626+15G>T)
c.452+15G>T (n.452+15G>T)
c.662+15G>T (n.662+15G>T)
n.918G>T
c.41+15G>T (n.41+15G>T)
c.530+15G>T (n.530+15G>T)
n.121+15G>T
11g.71441212C=CA1630855228DHCR7c.626+15G= (n.626+15G=)
c.452+15G= (n.452+15G=)
c.662+15G= (n.662+15G=)
n.918G=
c.41+15G= (n.41+15G=)
c.530+15G= (n.530+15G=)
n.121+15G=
11g.71441212C>GCA2581031620DHCR7c.626+15G>C (n.626+15G>C)
c.452+15G>C (n.452+15G>C)
c.662+15G>C (n.662+15G>C)
n.918G>C
c.41+15G>C (n.41+15G>C)
c.530+15G>C (n.530+15G>C)
n.121+15G>C
11g.71441212C>TCA147252DHCR7c.626+15G>A (n.626+15G>A)
c.452+15G>A (n.452+15G>A)
c.662+15G>A (n.662+15G>A)
n.918G>A
c.41+15G>A (n.41+15G>A)
c.530+15G>A (n.530+15G>A)
n.121+15G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71441213T>ACA2697548790DHCR7c.626+14A>T (n.626+14A>T)
c.452+14A>T (n.452+14A>T)
c.662+14A>T (n.662+14A>T)
n.917A>T
c.41+14A>T (n.41+14A>T)
c.530+14A>T (n.530+14A>T)
n.121+14A>T
 ClinVar
11g.71441213T>CCA2614860396DHCR7c.626+14A>G (n.626+14A>G)
c.452+14A>G (n.452+14A>G)
c.662+14A>G (n.662+14A>G)
n.917A>G
c.41+14A>G (n.41+14A>G)
c.530+14A>G (n.530+14A>G)
n.121+14A>G
 gnomAD v4
11g.71441213_71441214insTGTTTCA2614860395DHCR7c.626+14_626+15insAACAA (n.626+14_626+15insAACAA)
c.452+14_452+15insAACAA (n.452+14_452+15insAACAA)
c.662+14_662+15insAACAA (n.662+14_662+15insAACAA)
n.917_918insAACAA
c.41+14_41+15insAACAA (n.41+14_41+15insAACAA)
c.530+14_530+15insAACAA (n.530+14_530+15insAACAA)
n.121+14_121+15insAACAA
 gnomAD v4
11g.71441214G>ACA2614860397DHCR7c.626+13C>T (n.626+13C>T)
c.452+13C>T (n.452+13C>T)
c.662+13C>T (n.662+13C>T)
n.916C>T
c.41+13C>T (n.41+13C>T)
c.530+13C>T (n.530+13C>T)
n.121+13C>T
 gnomAD v4
11g.71441214G>CCA2724526291DHCR7c.626+13C>G (n.626+13C>G)
c.452+13C>G (n.452+13C>G)
c.662+13C>G (n.662+13C>G)
n.916C>G
c.41+13C>G (n.41+13C>G)
c.530+13C>G (n.530+13C>G)
n.121+13C>G
 dbSNP
11g.71441216T>CCA2574909350DHCR7c.626+11A>G (n.626+11A>G)
c.452+11A>G (n.452+11A>G)
c.662+11A>G (n.662+11A>G)
n.914A>G
c.41+11A>G (n.41+11A>G)
c.530+11A>G (n.530+11A>G)
n.121+11A>G
11g.71441219G>ACA6162521DHCR7c.626+8C>T (n.626+8C>T)
c.452+8C>T (n.452+8C>T)
c.662+8C>T (n.662+8C>T)
n.911C>T
c.41+8C>T (n.41+8C>T)
c.530+8C>T (n.530+8C>T)
n.121+8C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.71441219G=CA1981489679DHCR7c.626+8C= (n.626+8C=)
c.452+8C= (n.452+8C=)
c.662+8C= (n.662+8C=)
n.911C=
c.41+8C= (n.41+8C=)
c.530+8C= (n.530+8C=)
n.121+8C=
11g.71441220A=CA1981489680DHCR7c.626+7T= (n.626+7T=)
c.452+7T= (n.452+7T=)
c.662+7T= (n.662+7T=)
n.910T=
c.41+7T= (n.41+7T=)
c.530+7T= (n.530+7T=)
n.121+7T=
11g.71441220A>GCA2614860403DHCR7c.626+7T>C (n.626+7T>C)
c.452+7T>C (n.452+7T>C)
c.662+7T>C (n.662+7T>C)
n.910T>C
c.41+7T>C (n.41+7T>C)
c.530+7T>C (n.530+7T>C)
n.121+7T>C
 gnomAD v4
11g.71441220A>TCA1139662080DHCR7c.626+7T>A (n.626+7T>A)
c.452+7T>A (n.452+7T>A)
c.662+7T>A (n.662+7T>A)
n.910T>A
c.41+7T>A (n.41+7T>A)
c.530+7T>A (n.530+7T>A)
n.121+7T>A
 ClinVar dbSNP
11g.71441222C>TCA2574909351DHCR7c.626+5G>A (n.626+5G>A)
c.452+5G>A (n.452+5G>A)
c.662+5G>A (n.662+5G>A)
n.908G>A
c.41+5G>A (n.41+5G>A)
c.530+5G>A (n.530+5G>A)
n.121+5G>A
 gnomAD v4
11g.71441223A=CA1981489681DHCR7c.626+4T= (n.626+4T=)
c.452+4T= (n.452+4T=)
c.662+4T= (n.662+4T=)
n.907T=
c.41+4T= (n.41+4T=)
c.530+4T= (n.530+4T=)
n.121+4T=
11g.71441223A>TCA600241240DHCR7c.626+4T>A (n.626+4T>A)
c.452+4T>A (n.452+4T>A)
c.662+4T>A (n.662+4T>A)
n.907T>A
c.41+4T>A (n.41+4T>A)
c.530+4T>A (n.530+4T>A)
n.121+4T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71441224T>ACA679802147DHCR7c.626+3A>T (n.626+3A>T)
c.452+3A>T (n.452+3A>T)
c.662+3A>T (n.662+3A>T)
n.906A>T
c.41+3A>T (n.41+3A>T)
c.530+3A>T (n.530+3A>T)
n.121+3A>T
 dbSNP
11g.71441224T>CCA6162522DHCR7c.626+3A>G (n.626+3A>G)
c.452+3A>G (n.452+3A>G)
c.662+3A>G (n.662+3A>G)
n.906A>G
c.41+3A>G (n.41+3A>G)
c.530+3A>G (n.530+3A>G)
n.121+3A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71441224T=CA1981489682DHCR7c.626+3A= (n.626+3A=)
c.452+3A= (n.452+3A=)
c.662+3A= (n.662+3A=)
n.906A=
c.41+3A= (n.41+3A=)
c.530+3A= (n.530+3A=)
n.121+3A=
11g.71441225delCA2580084852DHCR7c.626+2del (n.626+2del)
c.452+2del (n.452+2del)
c.662+2del (n.662+2del)
n.905del
c.41+2del (n.41+2del)
c.530+2del (n.530+2del)
n.121+2del
 ClinVar
11g.71441225A>CCA381694275DHCR7c.626+2T>G (n.626+2T>G)
c.452+2T>G (n.452+2T>G)
c.662+2T>G (n.662+2T>G)
n.905T>G
c.41+2T>G (n.41+2T>G)
c.530+2T>G (n.530+2T>G)
n.121+2T>G
11g.71441225A>GCA381694273DHCR7c.626+2T>C (n.626+2T>C)
c.452+2T>C (n.452+2T>C)
c.662+2T>C (n.662+2T>C)
n.905T>C
c.41+2T>C (n.41+2T>C)
c.530+2T>C (n.530+2T>C)
n.121+2T>C
11g.71441225A>TCA381694274DHCR7c.626+2T>A (n.626+2T>A)
c.452+2T>A (n.452+2T>A)
c.662+2T>A (n.662+2T>A)
n.905T>A
c.41+2T>A (n.41+2T>A)
c.530+2T>A (n.530+2T>A)
n.121+2T>A
11g.71441225dupCA915948243DHCR7c.626+2dup (n.626+2dup)
c.452+2dup (n.452+2dup)
c.662+2dup (n.662+2dup)
n.905dup
c.41+2dup (n.41+2dup)
c.530+2dup (n.530+2dup)
n.121+2dup
 ClinVar dbSNP
11g.71441226C>ACA381694276DHCR7c.626+1G>T (n.626+1G>T)
c.452+1G>T (n.452+1G>T)
c.662+1G>T (n.662+1G>T)
n.904G>T
c.41+1G>T (n.41+1G>T)
c.530+1G>T (n.530+1G>T)
n.121+1G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.71441226C=CA1981489683DHCR7c.626+1G= (n.626+1G=)
c.452+1G= (n.452+1G=)
c.662+1G= (n.662+1G=)
n.904G=
c.41+1G= (n.41+1G=)
c.530+1G= (n.530+1G=)
n.121+1G=
11g.71441226C>GCA381694277DHCR7c.626+1G>C (n.626+1G>C)
c.452+1G>C (n.452+1G>C)
c.662+1G>C (n.662+1G>C)
n.904G>C
c.41+1G>C (n.41+1G>C)
c.530+1G>C (n.530+1G>C)
n.121+1G>C
 ClinVar dbSNP gnomAD v4
11g.71441226C>TCA381694278DHCR7c.626+1G>A (n.626+1G>A)
c.452+1G>A (n.452+1G>A)
c.662+1G>A (n.662+1G>A)
n.904G>A
c.41+1G>A (n.41+1G>A)
c.530+1G>A (n.530+1G>A)
n.121+1G>A
 gnomAD v4
11g.71441227C>ACA381694279DHCR7c.626G>T (p.Cys209Phe)
c.452G>T (p.Cys151Phe)
c.662G>T (p.Cys221Phe)
n.903G>T
c.41G>T (p.Cys14Phe)
c.530G>T (p.Cys177Phe)
n.121G>T
11g.71441227C=CA1981489684DHCR7c.626G= (p.Cys209=)
c.452G= (p.Cys151=)
c.662G= (p.Cys221=)
n.903G=
c.41G= (p.Cys14=)
c.530G= (p.Cys177=)
n.121G=
11g.71441227C>GCA381694280DHCR7c.626G>C (p.Cys209Ser)
c.452G>C (p.Cys151Ser)
c.662G>C (p.Cys221Ser)
n.903G>C
c.41G>C (p.Cys14Ser)
c.530G>C (p.Cys177Ser)
n.121G>C
 dbSNP gnomAD v3 gnomAD v4
11g.71441227C>TCA381694281DHCR7c.626G>A (p.Cys209Tyr)
c.452G>A (p.Cys151Tyr)
c.662G>A (p.Cys221Tyr)
n.903G>A
c.41G>A (p.Cys14Tyr)
c.530G>A (p.Cys177Tyr)
n.121G>A
11g.71441228A=CA1981489685DHCR7c.625T= (p.Cys209=)
c.451T= (p.Cys151=)
c.661T= (p.Cys221=)
n.902T=
c.40T= (p.Cys14=)
c.529T= (p.Cys177=)
n.120T=
11g.71441228A>CCA381694282DHCR7c.625T>G (p.Cys209Gly)
c.451T>G (p.Cys151Gly)
c.661T>G (p.Cys221Gly)
n.902T>G
c.40T>G (p.Cys14Gly)
c.529T>G (p.Cys177Gly)
n.120T>G
11g.71441228A>GCA381694283DHCR7c.625T>C (p.Cys209Arg)
c.451T>C (p.Cys151Arg)
c.661T>C (p.Cys221Arg)
n.902T>C
c.40T>C (p.Cys14Arg)
c.529T>C (p.Cys177Arg)
n.120T>C
 ClinVar dbSNP
11g.71441228A>TCA381694284DHCR7c.625T>A (p.Cys209Ser)
c.451T>A (p.Cys151Ser)
c.661T>A (p.Cys221Ser)
n.902T>A
c.40T>A (p.Cys14Ser)
c.529T>A (p.Cys177Ser)
n.120T>A
11g.71441229G>ACA224279736DHCR7c.624C>T (p.Asp208=)
c.450C>T (p.Asp150=)
c.660C>T (p.Asp220=)
n.901C>T
c.39C>T (p.Asp13=)
c.528C>T (p.Asp176=)
n.119C>T
 ClinVar dbSNP gnomAD v4
11g.71441229G>CCA381694285DHCR7c.624C>G (p.Asp208Glu)
c.450C>G (p.Asp150Glu)
c.660C>G (p.Asp220Glu)
n.901C>G
c.39C>G (p.Asp13Glu)
c.528C>G (p.Asp176Glu)
n.119C>G
11g.71441229G=CA1981489686DHCR7c.624C= (p.Asp208=)
c.450C= (p.Asp150=)
c.660C= (p.Asp220=)
n.901C=
c.39C= (p.Asp13=)
c.528C= (p.Asp176=)
n.119C=
11g.71441229G>TCA381694286DHCR7c.624C>A (p.Asp208Glu)
c.450C>A (p.Asp150Glu)
c.660C>A (p.Asp220Glu)
n.901C>A
c.39C>A (p.Asp13Glu)
c.528C>A (p.Asp176Glu)
n.119C>A
11g.71441230T>ACA381694288DHCR7c.623A>T (p.Asp208Val)
c.449A>T (p.Asp150Val)
c.659A>T (p.Asp220Val)
n.900A>T
c.38A>T (p.Asp13Val)
c.527A>T (p.Asp176Val)
n.118A>T
11g.71441230T>CCA381694289DHCR7c.623A>G (p.Asp208Gly)
c.449A>G (p.Asp150Gly)
c.659A>G (p.Asp220Gly)
n.900A>G
c.38A>G (p.Asp13Gly)
c.527A>G (p.Asp176Gly)
n.118A>G
11g.71441230T>GCA381694287DHCR7c.623A>C (p.Asp208Ala)
c.449A>C (p.Asp150Ala)
c.659A>C (p.Asp220Ala)
n.900A>C
c.38A>C (p.Asp13Ala)
c.527A>C (p.Asp176Ala)
n.118A>C
11g.71441231C>ACA381694292DHCR7c.622G>T (p.Asp208Tyr)
c.448G>T (p.Asp150Tyr)
c.658G>T (p.Asp220Tyr)
n.899G>T
c.37G>T (p.Asp13Tyr)
c.526G>T (p.Asp176Tyr)
n.117G>T
11g.71441231C>GCA381694290DHCR7c.622G>C (p.Asp208His)
c.448G>C (p.Asp150His)
c.658G>C (p.Asp220His)
n.899G>C
c.37G>C (p.Asp13His)
c.526G>C (p.Asp176His)
n.117G>C
11g.71441231C>TCA381694291DHCR7c.622G>A (p.Asp208Asn)
c.448G>A (p.Asp150Asn)
c.658G>A (p.Asp220Asn)
n.899G>A
c.37G>A (p.Asp13Asn)
c.526G>A (p.Asp176Asn)
n.117G>A
11g.71441232T>ACA381694293DHCR7c.621A>T (p.Arg207Ser)
c.447A>T (p.Arg149Ser)
c.657A>T (p.Arg219Ser)
n.898A>T
c.36A>T (p.Arg12Ser)
c.525A>T (p.Arg175Ser)
n.116A>T
11g.71441232T>CCA475518124DHCR7c.621A>G (p.Arg207=)
c.447A>G (p.Arg149=)
c.657A>G (p.Arg219=)
n.898A>G
c.36A>G (p.Arg12=)
c.525A>G (p.Arg175=)
n.116A>G
11g.71441232T>GCA381694294DHCR7c.621A>C (p.Arg207Ser)
c.447A>C (p.Arg149Ser)
c.657A>C (p.Arg219Ser)
n.898A>C
c.36A>C (p.Arg12Ser)
c.525A>C (p.Arg175Ser)
n.116A>C
11g.71441233C>ACA381694295DHCR7c.620G>T (p.Arg207Ile)
c.446G>T (p.Arg149Ile)
c.656G>T (p.Arg219Ile)
n.897G>T
c.35G>T (p.Arg12Ile)
c.524G>T (p.Arg175Ile)
n.115G>T
11g.71441233C>GCA381694296DHCR7c.620G>C (p.Arg207Thr)
c.446G>C (p.Arg149Thr)
c.656G>C (p.Arg219Thr)
n.897G>C
c.35G>C (p.Arg12Thr)
c.524G>C (p.Arg175Thr)
n.115G>C
11g.71441233C>TCA381694297DHCR7c.620G>A (p.Arg207Lys)
c.446G>A (p.Arg149Lys)
c.656G>A (p.Arg219Lys)
n.897G>A
c.35G>A (p.Arg12Lys)
c.524G>A (p.Arg175Lys)
n.115G>A
11g.71441234T>ACA381694298DHCR7c.619A>T (p.Arg207Ter)
c.445A>T (p.Arg149Ter)
c.655A>T (p.Arg219Ter)
n.896A>T
c.34A>T (p.Arg12Ter)
c.523A>T (p.Arg175Ter)
n.114A>T
11g.71441234T>CCA381694299DHCR7c.619A>G (p.Arg207Gly)
c.445A>G (p.Arg149Gly)
c.655A>G (p.Arg219Gly)
n.896A>G
c.34A>G (p.Arg12Gly)
c.523A>G (p.Arg175Gly)
n.114A>G
 dbSNP gnomAD v2 gnomAD v4
11g.71441234T>GCA475518131DHCR7c.619A>C (p.Arg207=)
c.445A>C (p.Arg149=)
c.655A>C (p.Arg219=)
n.896A>C
c.34A>C (p.Arg12=)
c.523A>C (p.Arg175=)
n.114A>C
11g.71441234T=CA1981489687DHCR7c.619A= (p.Arg207=)
c.445A= (p.Arg149=)
c.655A= (p.Arg219=)
n.896A=
c.34A= (p.Arg12=)
c.523A= (p.Arg175=)
n.114A=
11g.71441235G>ACA475518134DHCR7c.618C>T (p.Ala206=)
c.444C>T (p.Ala148=)
c.654C>T (p.Ala218=)
n.895C>T
c.33C>T (p.Ala11=)
c.522C>T (p.Ala174=)
n.113C>T
11g.71441235G>CCA475518136DHCR7c.618C>G (p.Ala206=)
c.444C>G (p.Ala148=)
c.654C>G (p.Ala218=)
n.895C>G
c.33C>G (p.Ala11=)
c.522C>G (p.Ala174=)
n.113C>G
11g.71441235G>TCA475518138DHCR7c.618C>A (p.Ala206=)
c.444C>A (p.Ala148=)
c.654C>A (p.Ala218=)
n.895C>A
c.33C>A (p.Ala11=)
c.522C>A (p.Ala174=)
n.113C>A
 gnomAD v4
11g.71441236G>ACA381694300DHCR7c.617C>T (p.Ala206Val)
c.443C>T (p.Ala148Val)
c.653C>T (p.Ala218Val)
n.894C>T
c.32C>T (p.Ala11Val)
c.521C>T (p.Ala174Val)
n.112C>T
11g.71441236G>CCA381694301DHCR7c.617C>G (p.Ala206Gly)
c.443C>G (p.Ala148Gly)
c.653C>G (p.Ala218Gly)
n.894C>G
c.32C>G (p.Ala11Gly)
c.521C>G (p.Ala174Gly)
n.112C>G
11g.71441236G>TCA381694302DHCR7c.617C>A (p.Ala206Asp)
c.443C>A (p.Ala148Asp)
c.653C>A (p.Ala218Asp)
n.894C>A
c.32C>A (p.Ala11Asp)
c.521C>A (p.Ala174Asp)
n.112C>A
11g.71441237C>ACA381694304DHCR7c.616G>T (p.Ala206Ser)
c.442G>T (p.Ala148Ser)
c.652G>T (p.Ala218Ser)
n.893G>T
c.31G>T (p.Ala11Ser)
c.520G>T (p.Ala174Ser)
n.111G>T
 ClinVar gnomAD v4
11g.71441237C=CA1981489688DHCR7c.616G= (p.Ala206=)
c.442G= (p.Ala148=)
c.652G= (p.Ala218=)
n.893G=
c.31G= (p.Ala11=)
c.520G= (p.Ala174=)
n.111G=
11g.71441237C>GCA381694303DHCR7c.616G>C (p.Ala206Pro)
c.442G>C (p.Ala148Pro)
c.652G>C (p.Ala218Pro)
n.893G>C
c.31G>C (p.Ala11Pro)
c.520G>C (p.Ala174Pro)
n.111G>C
11g.71441237C>TCA6162523DHCR7c.616G>A (p.Ala206Thr)
c.442G>A (p.Ala148Thr)
c.652G>A (p.Ala218Thr)
n.893G>A
c.31G>A (p.Ala11Thr)
c.520G>A (p.Ala174Thr)
n.111G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.71441238G>ACA6162524DHCR7c.615C>T (p.Ser205=)
c.441C>T (p.Ser147=)
c.651C>T (p.Ser217=)
n.892C>T
c.30C>T (p.Ser10=)
c.519C>T (p.Ser173=)
n.110C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71441238G>CCA381694305DHCR7c.615C>G (p.Ser205Arg)
c.441C>G (p.Ser147Arg)
c.651C>G (p.Ser217Arg)
n.892C>G
c.30C>G (p.Ser10Arg)
c.519C>G (p.Ser173Arg)
n.110C>G
11g.71441238G=CA1981489689DHCR7c.615C= (p.Ser205=)
c.441C= (p.Ser147=)
c.651C= (p.Ser217=)
n.892C=
c.30C= (p.Ser10=)
c.519C= (p.Ser173=)
n.110C=
11g.71441238G>TCA381694306DHCR7c.615C>A (p.Ser205Arg)
c.441C>A (p.Ser147Arg)
c.651C>A (p.Ser217Arg)
n.892C>A
c.30C>A (p.Ser10Arg)
c.519C>A (p.Ser173Arg)
n.110C>A
11g.71441239C>ACA381694307DHCR7c.614G>T (p.Ser205Ile)
c.440G>T (p.Ser147Ile)
c.650G>T (p.Ser217Ile)
n.891G>T
c.29G>T (p.Ser10Ile)
c.518G>T (p.Ser173Ile)
n.109G>T
11g.71441239C>GCA381694308DHCR7c.614G>C (p.Ser205Thr)
c.440G>C (p.Ser147Thr)
c.650G>C (p.Ser217Thr)
n.891G>C
c.29G>C (p.Ser10Thr)
c.518G>C (p.Ser173Thr)
n.109G>C
11g.71441239C>TCA381694309DHCR7c.614G>A (p.Ser205Asn)
c.440G>A (p.Ser147Asn)
c.650G>A (p.Ser217Asn)
n.891G>A
c.29G>A (p.Ser10Asn)
c.518G>A (p.Ser173Asn)
n.109G>A
11g.71441240T>ACA381694310DHCR7c.613A>T (p.Ser205Cys)
c.439A>T (p.Ser147Cys)
c.649A>T (p.Ser217Cys)
n.890A>T
c.28A>T (p.Ser10Cys)
c.517A>T (p.Ser173Cys)
n.108A>T
11g.71441240T>CCA381694311DHCR7c.613A>G (p.Ser205Gly)
c.439A>G (p.Ser147Gly)
c.649A>G (p.Ser217Gly)
n.890A>G
c.28A>G (p.Ser10Gly)
c.517A>G (p.Ser173Gly)
n.108A>G
11g.71441240T>GCA381694312DHCR7c.613A>C (p.Ser205Arg)
c.439A>C (p.Ser147Arg)
c.649A>C (p.Ser217Arg)
n.890A>C
c.28A>C (p.Ser10Arg)
c.517A>C (p.Ser173Arg)
n.108A>C
11g.71441241G>ACA475518172DHCR7c.612C>T (p.Thr204=)
c.438C>T (p.Thr146=)
c.648C>T (p.Thr216=)
n.889C>T
c.27C>T (p.Thr9=)
c.516C>T (p.Thr172=)
n.107C>T
 ClinVar gnomAD v4
11g.71441241G>CCA475518175DHCR7c.612C>G (p.Thr204=)
c.438C>G (p.Thr146=)
c.648C>G (p.Thr216=)
n.889C>G
c.27C>G (p.Thr9=)
c.516C>G (p.Thr172=)
n.107C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71441241G=CA1981489690DHCR7c.612C= (p.Thr204=)
c.438C= (p.Thr146=)
c.648C= (p.Thr216=)
n.889C=
c.27C= (p.Thr9=)
c.516C= (p.Thr172=)
n.107C=
11g.71441241G>TCA475518178DHCR7c.612C>A (p.Thr204=)
c.438C>A (p.Thr146=)
c.648C>A (p.Thr216=)
n.889C>A
c.27C>A (p.Thr9=)
c.516C>A (p.Thr172=)
n.107C>A
 dbSNP
11g.71441242G>ACA381694313DHCR7c.611C>T (p.Thr204Ile)
c.437C>T (p.Thr146Ile)
c.647C>T (p.Thr216Ile)
n.888C>T
c.26C>T (p.Thr9Ile)
c.515C>T (p.Thr172Ile)
n.106C>T
11g.71441242G>CCA381694314DHCR7c.611C>G (p.Thr204Ser)
c.437C>G (p.Thr146Ser)
c.647C>G (p.Thr216Ser)
n.888C>G
c.26C>G (p.Thr9Ser)
c.515C>G (p.Thr172Ser)
n.106C>G
11g.71441242G>TCA381694315DHCR7c.611C>A (p.Thr204Asn)
c.437C>A (p.Thr146Asn)
c.647C>A (p.Thr216Asn)
n.888C>A
c.26C>A (p.Thr9Asn)
c.515C>A (p.Thr172Asn)
n.106C>A
11g.71441243T>ACA381694317DHCR7c.610A>T (p.Thr204Ser)
c.436A>T (p.Thr146Ser)
c.646A>T (p.Thr216Ser)
n.887A>T
c.25A>T (p.Thr9Ser)
c.514A>T (p.Thr172Ser)
n.105A>T
11g.71441243T>CCA381694318DHCR7c.610A>G (p.Thr204Ala)
c.436A>G (p.Thr146Ala)
c.646A>G (p.Thr216Ala)
n.887A>G
c.25A>G (p.Thr9Ala)
c.514A>G (p.Thr172Ala)
n.105A>G
11g.71441243T>GCA381694316DHCR7c.610A>C (p.Thr204Pro)
c.436A>C (p.Thr146Pro)
c.646A>C (p.Thr216Pro)
n.887A>C
c.25A>C (p.Thr9Pro)
c.514A>C (p.Thr172Pro)
n.105A>C
 dbSNP
11g.71441244G>ACA475518188DHCR7c.609C>T (p.Pro203=)
c.435C>T (p.Pro145=)
c.645C>T (p.Pro215=)
n.886C>T
c.24C>T (p.Pro8=)
c.513C>T (p.Pro171=)
n.104C>T
 ClinVar
11g.71441244G>CCA475518189DHCR7c.609C>G (p.Pro203=)
c.435C>G (p.Pro145=)
c.645C>G (p.Pro215=)
n.886C>G
c.24C>G (p.Pro8=)
c.513C>G (p.Pro171=)
n.104C>G
11g.71441244G>TCA475518190DHCR7c.609C>A (p.Pro203=)
c.435C>A (p.Pro145=)
c.645C>A (p.Pro215=)
n.886C>A
c.24C>A (p.Pro8=)
c.513C>A (p.Pro171=)
n.104C>A
11g.71441245G>ACA381694319DHCR7c.608C>T (p.Pro203Leu)
c.434C>T (p.Pro145Leu)
c.644C>T (p.Pro215Leu)
n.885C>T
c.23C>T (p.Pro8Leu)
c.512C>T (p.Pro171Leu)
n.103C>T
 COSMIC COSMIC
11g.71441245G>CCA381694320DHCR7c.608C>G (p.Pro203Arg)
c.434C>G (p.Pro145Arg)
c.644C>G (p.Pro215Arg)
n.885C>G
c.23C>G (p.Pro8Arg)
c.512C>G (p.Pro171Arg)
n.103C>G
11g.71441245G>TCA381694321DHCR7c.608C>A (p.Pro203His)
c.434C>A (p.Pro145His)
c.644C>A (p.Pro215His)
n.885C>A
c.23C>A (p.Pro8His)
c.512C>A (p.Pro171His)
n.103C>A
11g.71441246G>ACA6162525DHCR7c.607C>T (p.Pro203Ser)
c.433C>T (p.Pro145Ser)
c.643C>T (p.Pro215Ser)
n.884C>T
c.22C>T (p.Pro8Ser)
c.511C>T (p.Pro171Ser)
n.102C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71441246G>CCA381694322DHCR7c.607C>G (p.Pro203Ala)
c.433C>G (p.Pro145Ala)
c.643C>G (p.Pro215Ala)
n.884C>G
c.22C>G (p.Pro8Ala)
c.511C>G (p.Pro171Ala)
n.102C>G
11g.71441246G=CA1981489691DHCR7c.607C= (p.Pro203=)
c.433C= (p.Pro145=)
c.643C= (p.Pro215=)
n.884C=
c.22C= (p.Pro8=)
c.511C= (p.Pro171=)
n.102C=
11g.71441246G>TCA381694323DHCR7c.607C>A (p.Pro203Thr)
c.433C>A (p.Pro145Thr)
c.643C>A (p.Pro215Thr)
n.884C>A
c.22C>A (p.Pro8Thr)
c.511C>A (p.Pro171Thr)
n.102C>A
11g.71441247G>ACA475518201DHCR7c.606C>T (p.Phe202=)
c.432C>T (p.Phe144=)
c.642C>T (p.Phe214=)
n.883C>T
c.21C>T (p.Phe7=)
c.510C>T (p.Phe170=)
n.101C>T
 ClinVar dbSNP
11g.71441247G>CCA381694324DHCR7c.606C>G (p.Phe202Leu)
c.432C>G (p.Phe144Leu)
c.642C>G (p.Phe214Leu)
n.883C>G
c.21C>G (p.Phe7Leu)
c.510C>G (p.Phe170Leu)
n.101C>G
11g.71441247G=CA1981489692DHCR7c.606C= (p.Phe202=)
c.432C= (p.Phe144=)
c.642C= (p.Phe214=)
n.883C=
c.21C= (p.Phe7=)
c.510C= (p.Phe170=)
n.101C=
11g.71441247G>TCA381694325DHCR7c.606C>A (p.Phe202Leu)
c.432C>A (p.Phe144Leu)
c.642C>A (p.Phe214Leu)
n.883C>A
c.21C>A (p.Phe7Leu)
c.510C>A (p.Phe170Leu)
n.101C>A
11g.71441248A>CCA381694326DHCR7c.605T>G (p.Phe202Cys)
c.431T>G (p.Phe144Cys)
c.641T>G (p.Phe214Cys)
n.882T>G
c.20T>G (p.Phe7Cys)
c.509T>G (p.Phe170Cys)
n.100T>G
11g.71441248A>GCA381694327DHCR7c.605T>C (p.Phe202Ser)
c.431T>C (p.Phe144Ser)
c.641T>C (p.Phe214Ser)
n.882T>C
c.20T>C (p.Phe7Ser)
c.509T>C (p.Phe170Ser)
n.100T>C
11g.71441248A>TCA381694328DHCR7c.605T>A (p.Phe202Tyr)
c.431T>A (p.Phe144Tyr)
c.641T>A (p.Phe214Tyr)
n.882T>A
c.20T>A (p.Phe7Tyr)
c.509T>A (p.Phe170Tyr)
n.100T>A
11g.71441249A>CCA381694329DHCR7c.604T>G (p.Phe202Val)
c.430T>G (p.Phe144Val)
c.640T>G (p.Phe214Val)
n.881T>G
c.19T>G (p.Phe7Val)
c.508T>G (p.Phe170Val)
n.99T>G
11g.71441249A>GCA381694330DHCR7c.604T>C (p.Phe202Leu)
c.430T>C (p.Phe144Leu)
c.640T>C (p.Phe214Leu)
n.881T>C
c.19T>C (p.Phe7Leu)
c.508T>C (p.Phe170Leu)
n.99T>C
11g.71441249A>TCA381694331DHCR7c.604T>A (p.Phe202Ile)
c.430T>A (p.Phe144Ile)
c.640T>A (p.Phe214Ile)
n.881T>A
c.19T>A (p.Phe7Ile)
c.508T>A (p.Phe170Ile)
n.99T>A
11g.71441250G>ACA475518210DHCR7c.603C>T (p.Phe201=)
c.429C>T (p.Phe143=)
c.639C>T (p.Phe213=)
n.880C>T
c.18C>T (p.Phe6=)
c.507C>T (p.Phe169=)
n.98C>T
11g.71441250G>CCA381694332DHCR7c.603C>G (p.Phe201Leu)
c.429C>G (p.Phe143Leu)
c.639C>G (p.Phe213Leu)
n.880C>G
c.18C>G (p.Phe6Leu)
c.507C>G (p.Phe169Leu)
n.98C>G
11g.71441250G=CA1981489693DHCR7c.603C= (p.Phe201=)
c.429C= (p.Phe143=)
c.639C= (p.Phe213=)
n.880C=
c.18C= (p.Phe6=)
c.507C= (p.Phe169=)
n.98C=
11g.71441250G>TCA6162526DHCR7c.603C>A (p.Phe201Leu)
c.429C>A (p.Phe143Leu)
c.639C>A (p.Phe213Leu)
n.880C>A
c.18C>A (p.Phe6Leu)
c.507C>A (p.Phe169Leu)
n.98C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71441251A=CA1981489694DHCR7c.602T= (p.Phe201=)
c.428T= (p.Phe143=)
c.638T= (p.Phe213=)
n.879T=
c.17T= (p.Phe6=)
c.506T= (p.Phe169=)
n.97T=
11g.71441251A>CCA381694333DHCR7c.602T>G (p.Phe201Cys)
c.428T>G (p.Phe143Cys)
c.638T>G (p.Phe213Cys)
n.879T>G
c.17T>G (p.Phe6Cys)
c.506T>G (p.Phe169Cys)
n.97T>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71441251A>GCA381694334DHCR7c.602T>C (p.Phe201Ser)
c.428T>C (p.Phe143Ser)
c.638T>C (p.Phe213Ser)
n.879T>C
c.17T>C (p.Phe6Ser)
c.506T>C (p.Phe169Ser)
n.97T>C
11g.71441251A>TCA381694335DHCR7c.602T>A (p.Phe201Tyr)
c.428T>A (p.Phe143Tyr)
c.638T>A (p.Phe213Tyr)
n.879T>A
c.17T>A (p.Phe6Tyr)
c.506T>A (p.Phe169Tyr)
n.97T>A
11g.71441252A=CA1981489695DHCR7c.601T= (p.Phe201=)
c.427T= (p.Phe143=)
c.637T= (p.Phe213=)
n.878T=
c.16T= (p.Phe6=)
c.505T= (p.Phe169=)
n.96T=
11g.71441252A>CCA381694336DHCR7c.601T>G (p.Phe201Val)
c.427T>G (p.Phe143Val)
c.637T>G (p.Phe213Val)
n.878T>G
c.16T>G (p.Phe6Val)
c.505T>G (p.Phe169Val)
n.96T>G
11g.71441252A>GCA6162527DHCR7c.601T>C (p.Phe201Leu)
c.427T>C (p.Phe143Leu)
c.637T>C (p.Phe213Leu)
n.878T>C
c.16T>C (p.Phe6Leu)
c.505T>C (p.Phe169Leu)
n.96T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71441252A>TCA381694337DHCR7c.601T>A (p.Phe201Ile)
c.427T>A (p.Phe143Ile)
c.637T>A (p.Phe213Ile)
n.878T>A
c.16T>A (p.Phe6Ile)
c.505T>A (p.Phe169Ile)
n.96T>A
 gnomAD v4
11g.71441253G>ACA475518241DHCR7c.600C>T (p.Tyr200=)
c.426C>T (p.Tyr142=)
c.636C>T (p.Tyr212=)
n.877C>T
c.15C>T (p.Tyr5=)
c.504C>T (p.Tyr168=)
n.95C>T
 gnomAD v4
11g.71441253G>CCA381694339DHCR7c.600C>G (p.Tyr200Ter)
c.426C>G (p.Tyr142Ter)
c.636C>G (p.Tyr212Ter)
n.877C>G
c.15C>G (p.Tyr5Ter)
c.504C>G (p.Tyr168Ter)
n.95C>G
 ClinVar dbSNP gnomAD v4
11g.71441253G>TCA381694338DHCR7c.600C>A (p.Tyr200Ter)
c.426C>A (p.Tyr142Ter)
c.636C>A (p.Tyr212Ter)
n.877C>A
c.15C>A (p.Tyr5Ter)
c.504C>A (p.Tyr168Ter)
n.95C>A
11g.71441254T>ACA381694340DHCR7c.599A>T (p.Tyr200Phe)
c.425A>T (p.Tyr142Phe)
c.635A>T (p.Tyr212Phe)
n.876A>T
c.14A>T (p.Tyr5Phe)
c.503A>T (p.Tyr168Phe)
n.94A>T
11g.71441254T>CCA381694341DHCR7c.599A>G (p.Tyr200Cys)
c.425A>G (p.Tyr142Cys)
c.635A>G (p.Tyr212Cys)
n.876A>G
c.14A>G (p.Tyr5Cys)
c.503A>G (p.Tyr168Cys)
n.94A>G
 dbSNP gnomAD v4
11g.71441254T>GCA381694342DHCR7c.599A>C (p.Tyr200Ser)
c.425A>C (p.Tyr142Ser)
c.635A>C (p.Tyr212Ser)
n.876A>C
c.14A>C (p.Tyr5Ser)
c.503A>C (p.Tyr168Ser)
n.94A>C
 dbSNP gnomAD v4
11g.71441254T=CA1981489696DHCR7c.599A= (p.Tyr200=)
c.425A= (p.Tyr142=)
c.635A= (p.Tyr212=)
n.876A=
c.14A= (p.Tyr5=)
c.503A= (p.Tyr168=)
n.94A=
11g.71441255A>CCA381694343DHCR7c.598T>G (p.Tyr200Asp)
c.424T>G (p.Tyr142Asp)
c.634T>G (p.Tyr212Asp)
n.875T>G
c.13T>G (p.Tyr5Asp)
c.502T>G (p.Tyr168Asp)
n.93T>G
11g.71441255A>GCA381694344DHCR7c.598T>C (p.Tyr200His)
c.424T>C (p.Tyr142His)
c.634T>C (p.Tyr212His)
n.875T>C
c.13T>C (p.Tyr5His)
c.502T>C (p.Tyr168His)
n.93T>C
11g.71441255A>TCA381694345DHCR7c.598T>A (p.Tyr200Asn)
c.424T>A (p.Tyr142Asn)
c.634T>A (p.Tyr212Asn)
n.875T>A
c.13T>A (p.Tyr5Asn)
c.502T>A (p.Tyr168Asn)
n.93T>A
11g.71441256G>ACA475518260DHCR7c.597C>T (p.Gly199=)
c.423C>T (p.Gly141=)
c.633C>T (p.Gly211=)
n.874C>T
c.12C>T (p.Gly4=)
c.501C>T (p.Gly167=)
n.92C>T
11g.71441256G>CCA475518263DHCR7c.597C>G (p.Gly199=)
c.423C>G (p.Gly141=)
c.633C>G (p.Gly211=)
n.874C>G
c.12C>G (p.Gly4=)
c.501C>G (p.Gly167=)
n.92C>G
11g.71441256G>TCA475518265DHCR7c.597C>A (p.Gly199=)
c.423C>A (p.Gly141=)
c.633C>A (p.Gly211=)
n.874C>A
c.12C>A (p.Gly4=)
c.501C>A (p.Gly167=)
n.92C>A
11g.71441257C>ACA381694346DHCR7c.596G>T (p.Gly199Val)
c.422G>T (p.Gly141Val)
c.632G>T (p.Gly211Val)
n.873G>T
c.11G>T (p.Gly4Val)
c.500G>T (p.Gly167Val)
n.91G>T
11g.71441257C>GCA381694348DHCR7c.596G>C (p.Gly199Ala)
c.422G>C (p.Gly141Ala)
c.632G>C (p.Gly211Ala)
n.873G>C
c.11G>C (p.Gly4Ala)
c.500G>C (p.Gly167Ala)
n.91G>C
11g.71441257C>TCA381694347DHCR7c.596G>A (p.Gly199Asp)
c.422G>A (p.Gly141Asp)
c.632G>A (p.Gly211Asp)
n.873G>A
c.11G>A (p.Gly4Asp)
c.500G>A (p.Gly167Asp)
n.91G>A
11g.71441258C>ACA381694349DHCR7c.595G>T (p.Gly199Cys)
c.421G>T (p.Gly141Cys)
c.631G>T (p.Gly211Cys)
n.872G>T
c.10G>T (p.Gly4Cys)
c.499G>T (p.Gly167Cys)
n.90G>T
11g.71441258C>GCA381694351DHCR7c.595G>C (p.Gly199Arg)
c.421G>C (p.Gly141Arg)
c.631G>C (p.Gly211Arg)
n.872G>C
c.10G>C (p.Gly4Arg)
c.499G>C (p.Gly167Arg)
n.90G>C
11g.71441258C>TCA381694350DHCR7c.595G>A (p.Gly199Ser)
c.421G>A (p.Gly141Ser)
c.631G>A (p.Gly211Ser)
n.872G>A
c.10G>A (p.Gly4Ser)
c.499G>A (p.Gly167Ser)
n.90G>A
 COSMIC COSMIC
11g.71441259C>ACA381694352DHCR7c.594G>T (p.Lys198Asn)
c.420G>T (p.Lys140Asn)
c.630G>T (p.Lys210Asn)
n.871G>T
c.9G>T (p.Lys3Asn)
c.498G>T (p.Lys166Asn)
n.89G>T
11g.71441259C>GCA381694353DHCR7c.594G>C (p.Lys198Asn)
c.420G>C (p.Lys140Asn)
c.630G>C (p.Lys210Asn)
n.871G>C
c.9G>C (p.Lys3Asn)
c.498G>C (p.Lys166Asn)
n.89G>C
11g.71441259C>TCA475518268DHCR7c.594G>A (p.Lys198=)
c.420G>A (p.Lys140=)
c.630G>A (p.Lys210=)
n.871G>A
c.9G>A (p.Lys3=)
c.498G>A (p.Lys166=)
n.89G>A
11g.71441260T>ACA381694354DHCR7c.593A>T (p.Lys198Met)
c.419A>T (p.Lys140Met)
c.629A>T (p.Lys210Met)
n.870A>T
c.8A>T (p.Lys3Met)
c.497A>T (p.Lys166Met)
n.88A>T
11g.71441260T>CCA381694356DHCR7c.593A>G (p.Lys198Arg)
c.419A>G (p.Lys140Arg)
c.629A>G (p.Lys210Arg)
n.870A>G
c.8A>G (p.Lys3Arg)
c.497A>G (p.Lys166Arg)
n.88A>G
11g.71441260T>GCA381694355DHCR7c.593A>C (p.Lys198Thr)
c.419A>C (p.Lys140Thr)
c.629A>C (p.Lys210Thr)
n.870A>C
c.8A>C (p.Lys3Thr)
c.497A>C (p.Lys166Thr)
n.88A>C
11g.71441261T>ACA381694357DHCR7c.592A>T (p.Lys198Ter)
c.418A>T (p.Lys140Ter)
c.628A>T (p.Lys210Ter)
n.869A>T
c.7A>T (p.Lys3Ter)
c.496A>T (p.Lys166Ter)
n.87A>T
11g.71441261T>CCA381694358DHCR7c.592A>G (p.Lys198Glu)
c.418A>G (p.Lys140Glu)
c.628A>G (p.Lys210Glu)
n.869A>G
c.7A>G (p.Lys3Glu)
c.496A>G (p.Lys166Glu)
n.87A>G
 ClinVar
11g.71441261T>GCA381694359DHCR7c.592A>C (p.Lys198Gln)
c.418A>C (p.Lys140Gln)
c.628A>C (p.Lys210Gln)
n.869A>C
c.7A>C (p.Lys3Gln)
c.496A>C (p.Lys166Gln)
n.87A>C
11g.71441262G>ACA475518269DHCR7c.591C>T (p.Val197=)
c.417C>T (p.Val139=)
c.627C>T (p.Val209=)
n.868C>T
c.6C>T (p.Val2=)
c.495C>T (p.Val165=)
n.86C>T
11g.71441262G>CCA475518270DHCR7c.591C>G (p.Val197=)
c.417C>G (p.Val139=)
c.627C>G (p.Val209=)
n.868C>G
c.6C>G (p.Val2=)
c.495C>G (p.Val165=)
n.86C>G
11g.71441262G>TCA475518271DHCR7c.591C>A (p.Val197=)
c.417C>A (p.Val139=)
c.627C>A (p.Val209=)
n.868C>A
c.6C>A (p.Val2=)
c.495C>A (p.Val165=)
n.86C>A
11g.71441263A>CCA381694360DHCR7c.590T>G (p.Val197Gly)
c.416T>G (p.Val139Gly)
c.626T>G (p.Val209Gly)
n.867T>G
c.5T>G (p.Val2Gly)
c.494T>G (p.Val165Gly)
n.85T>G
 gnomAD v4
11g.71441263A>GCA381694361DHCR7c.590T>C (p.Val197Ala)
c.416T>C (p.Val139Ala)
c.626T>C (p.Val209Ala)
n.867T>C
c.5T>C (p.Val2Ala)
c.494T>C (p.Val165Ala)
n.85T>C
11g.71441263A>TCA381694362DHCR7c.590T>A (p.Val197Asp)
c.416T>A (p.Val139Asp)
c.626T>A (p.Val209Asp)
n.867T>A
c.5T>A (p.Val2Asp)
c.494T>A (p.Val165Asp)
n.85T>A
11g.71441264C>ACA381694363DHCR7c.589G>T (p.Val197Phe)
c.415G>T (p.Val139Phe)
c.625G>T (p.Val209Phe)
n.866G>T
c.4G>T (p.Val2Phe)
c.493G>T (p.Val165Phe)
n.84G>T
 gnomAD v4
11g.71441264C>GCA381694364DHCR7c.589G>C (p.Val197Leu)
c.415G>C (p.Val139Leu)
c.625G>C (p.Val209Leu)
n.866G>C
c.4G>C (p.Val2Leu)
c.493G>C (p.Val165Leu)
n.84G>C
11g.71441264C>TCA381694365DHCR7c.589G>A (p.Val197Ile)
c.415G>A (p.Val139Ile)
c.625G>A (p.Val209Ile)
n.866G>A
c.4G>A (p.Val2Ile)
c.493G>A (p.Val165Ile)
n.84G>A
11g.71441265C>ACA381694366DHCR7c.588G>T (p.Met196Ile)
c.414G>T (p.Met138Ile)
c.624G>T (p.Met208Ile)
n.865G>T
c.3G>T (p.Met1Ile)
c.492G>T (p.Met164Ile)
n.83G>T
11g.71441265C>GCA381694367DHCR7c.588G>C (p.Met196Ile)
c.414G>C (p.Met138Ile)
c.624G>C (p.Met208Ile)
n.865G>C
c.3G>C (p.Met1Ile)
c.492G>C (p.Met164Ile)
n.83G>C
11g.71441265C>TCA381694368DHCR7c.588G>A (p.Met196Ile)
c.414G>A (p.Met138Ile)
c.624G>A (p.Met208Ile)
n.865G>A
c.3G>A (p.Met1Ile)
c.492G>A (p.Met164Ile)
n.83G>A
 gnomAD v4
11g.71441266A=CA1981489697DHCR7c.587T= (p.Met196=)
c.413T= (p.Met138=)
c.623T= (p.Met208=)
n.864T=
c.2T= (p.Met1=)
c.491T= (p.Met164=)
n.82T=
11g.71441266A>CCA381694369DHCR7c.587T>G (p.Met196Arg)
c.413T>G (p.Met138Arg)
c.623T>G (p.Met208Arg)
n.864T>G
c.2T>G (p.Met1Arg)
c.491T>G (p.Met164Arg)
n.82T>G
11g.71441266A>GCA224279754DHCR7c.587T>C (p.Met196Thr)
c.413T>C (p.Met138Thr)
c.623T>C (p.Met208Thr)
n.864T>C
c.2T>C (p.Met1Thr)
c.491T>C (p.Met164Thr)
n.82T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71441266A>TCA381694370DHCR7c.587T>A (p.Met196Lys)
c.413T>A (p.Met138Lys)
c.623T>A (p.Met208Lys)
n.864T>A
c.2T>A (p.Met1Lys)
c.491T>A (p.Met164Lys)
n.82T>A
11g.71441267T>ACA381694371DHCR7c.586A>T (p.Met196Leu)
c.412A>T (p.Met138Leu)
c.622A>T (p.Met208Leu)
n.863A>T
c.1A>T (p.Met1Leu)
c.490A>T (p.Met164Leu)
n.81A>T
11g.71441267T>CCA6162528DHCR7c.586A>G (p.Met196Val)
c.412A>G (p.Met138Val)
c.622A>G (p.Met208Val)
n.863A>G
c.1A>G (p.Met1Val)
c.490A>G (p.Met164Val)
n.81A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71441267T>GCA381694372DHCR7c.586A>C (p.Met196Leu)
c.412A>C (p.Met138Leu)
c.622A>C (p.Met208Leu)
n.863A>C
c.1A>C (p.Met1Leu)
c.490A>C (p.Met164Leu)
n.81A>C
11g.71441267T=CA1981489698DHCR7c.586A= (p.Met196=)
c.412A= (p.Met138=)
c.622A= (p.Met208=)
n.863A=
c.1A= (p.Met1=)
c.490A= (p.Met164=)
n.81A=
11g.71441268G>ACA475518275DHCR7c.585C>T (p.Ala195=)
c.411C>T (p.Ala137=)
c.621C>T (p.Ala207=)
n.862C>T
c.-1C>T (n.-1C>T)
c.489C>T (p.Ala163=)
n.80C>T
 ClinVar dbSNP
11g.71441268G>CCA475518276DHCR7c.585C>G (p.Ala195=)
c.411C>G (p.Ala137=)
c.621C>G (p.Ala207=)
n.862C>G
c.-1C>G (n.-1C>G)
c.489C>G (p.Ala163=)
n.80C>G
11g.71441268G>TCA475518274DHCR7c.585C>A (p.Ala195=)
c.411C>A (p.Ala137=)
c.621C>A (p.Ala207=)
n.862C>A
c.-1C>A (n.-1C>A)
c.489C>A (p.Ala163=)
n.80C>A
11g.71441269G>ACA381694373DHCR7c.584C>T (p.Ala195Val)
c.410C>T (p.Ala137Val)
c.620C>T (p.Ala207Val)
n.861C>T
c.-2C>T (n.-2C>T)
c.488C>T (p.Ala163Val)
n.79C>T
11g.71441269G>CCA381694374DHCR7c.584C>G (p.Ala195Gly)
c.410C>G (p.Ala137Gly)
c.620C>G (p.Ala207Gly)
n.861C>G
c.-2C>G (n.-2C>G)
c.488C>G (p.Ala163Gly)
n.79C>G
11g.71441269G>TCA381694375DHCR7c.584C>A (p.Ala195Asp)
c.410C>A (p.Ala137Asp)
c.620C>A (p.Ala207Asp)
n.861C>A
c.-2C>A (n.-2C>A)
c.488C>A (p.Ala163Asp)
n.79C>A
11g.71441270C>ACA381694376DHCR7c.583G>T (p.Ala195Ser)
c.409G>T (p.Ala137Ser)
c.619G>T (p.Ala207Ser)
n.860G>T
c.-3G>T (n.-3G>T)
c.487G>T (p.Ala163Ser)
n.78G>T
11g.71441270C=CA1981489699DHCR7c.583G= (p.Ala195=)
c.409G= (p.Ala137=)
c.619G= (p.Ala207=)
n.860G=
c.-3G= (n.-3G=)
c.487G= (p.Ala163=)
n.78G=
11g.71441270C>GCA381694377DHCR7c.583G>C (p.Ala195Pro)
c.409G>C (p.Ala137Pro)
c.619G>C (p.Ala207Pro)
n.860G>C
c.-3G>C (n.-3G>C)
c.487G>C (p.Ala163Pro)
n.78G>C
11g.71441270C>TCA6162529DHCR7c.583G>A (p.Ala195Thr)
c.409G>A (p.Ala137Thr)
c.619G>A (p.Ala207Thr)
n.860G>A
c.-3G>A (n.-3G>A)
c.487G>A (p.Ala163Thr)
n.78G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.71441271G>ACA246628DHCR7c.582C>T (p.Phe194=)
c.408C>T (p.Phe136=)
c.618C>T (p.Phe206=)
n.859C>T
c.-4C>T (n.-4C>T)
c.486C>T (p.Phe162=)
n.77C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71441271G>CCA381694379DHCR7c.582C>G (p.Phe194Leu)
c.408C>G (p.Phe136Leu)
c.618C>G (p.Phe206Leu)
n.859C>G
c.-4C>G (n.-4C>G)
c.486C>G (p.Phe162Leu)
n.77C>G
11g.71441271G=CA1981489700DHCR7c.582C= (p.Phe194=)
c.408C= (p.Phe136=)
c.618C= (p.Phe206=)
n.859C=
c.-4C= (n.-4C=)
c.486C= (p.Phe162=)
n.77C=
11g.71441271G>TCA381694378DHCR7c.582C>A (p.Phe194Leu)
c.408C>A (p.Phe136Leu)
c.618C>A (p.Phe206Leu)
n.859C>A
c.-4C>A (n.-4C>A)
c.486C>A (p.Phe162Leu)
n.77C>A
11g.71441272A>CCA381694380DHCR7c.581T>G (p.Phe194Cys)
c.407T>G (p.Phe136Cys)
c.617T>G (p.Phe206Cys)
n.858T>G
c.-5T>G (n.-5T>G)
c.485T>G (p.Phe162Cys)
n.76T>G
11g.71441272A>GCA381694381DHCR7c.581T>C (p.Phe194Ser)
c.407T>C (p.Phe136Ser)
c.617T>C (p.Phe206Ser)
n.858T>C
c.-5T>C (n.-5T>C)
c.485T>C (p.Phe162Ser)
n.76T>C
11g.71441272A>TCA381694382DHCR7c.581T>A (p.Phe194Tyr)
c.407T>A (p.Phe136Tyr)
c.617T>A (p.Phe206Tyr)
n.858T>A
c.-5T>A (n.-5T>A)
c.485T>A (p.Phe162Tyr)
n.76T>A
11g.71441273A>CCA381694383DHCR7c.580T>G (p.Phe194Val)
c.406T>G (p.Phe136Val)
c.616T>G (p.Phe206Val)
n.857T>G
c.-6T>G (n.-6T>G)
c.484T>G (p.Phe162Val)
n.75T>G
11g.71441273A>GCA381694384DHCR7c.580T>C (p.Phe194Leu)
c.406T>C (p.Phe136Leu)
c.616T>C (p.Phe206Leu)
n.857T>C
c.-6T>C (n.-6T>C)
c.484T>C (p.Phe162Leu)
n.75T>C
11g.71441273A>TCA381694385DHCR7c.580T>A (p.Phe194Ile)
c.406T>A (p.Phe136Ile)
c.616T>A (p.Phe206Ile)
n.857T>A
c.-6T>A (n.-6T>A)
c.484T>A (p.Phe162Ile)
n.75T>A
11g.71441274G>ACA475518278DHCR7c.579C>T (p.Thr193=)
c.405C>T (p.Thr135=)
c.615C>T (p.Thr205=)
n.856C>T
c.-7C>T (n.-7C>T)
c.483C>T (p.Thr161=)
n.74C>T
 dbSNP gnomAD v2 gnomAD v4
11g.71441274G>CCA224279765DHCR7c.579C>G (p.Thr193=)
c.405C>G (p.Thr135=)
c.615C>G (p.Thr205=)
n.856C>G
c.-7C>G (n.-7C>G)
c.483C>G (p.Thr161=)
n.74C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71441274G=CA1981489701DHCR7c.579C= (p.Thr193=)
c.405C= (p.Thr135=)
c.615C= (p.Thr205=)
n.856C=
c.-7C= (n.-7C=)
c.483C= (p.Thr161=)
n.74C=
11g.71441274G>TCA475518279DHCR7c.579C>A (p.Thr193=)
c.405C>A (p.Thr135=)
c.615C>A (p.Thr205=)
n.856C>A
c.-7C>A (n.-7C>A)
c.483C>A (p.Thr161=)
n.74C>A
11g.71441275G>ACA381694386DHCR7c.578C>T (p.Thr193Ile)
c.404C>T (p.Thr135Ile)
c.614C>T (p.Thr205Ile)
n.855C>T
c.-8C>T (n.-8C>T)
c.482C>T (p.Thr161Ile)
n.73C>T
 gnomAD v4
11g.71441275G>CCA381694387DHCR7c.578C>G (p.Thr193Ser)
c.404C>G (p.Thr135Ser)
c.614C>G (p.Thr205Ser)
n.855C>G
c.-8C>G (n.-8C>G)
c.482C>G (p.Thr161Ser)
n.73C>G
 ClinVar
11g.71441275G>TCA381694388DHCR7c.578C>A (p.Thr193Asn)
c.404C>A (p.Thr135Asn)
c.614C>A (p.Thr205Asn)
n.855C>A
c.-8C>A (n.-8C>A)
c.482C>A (p.Thr161Asn)
n.73C>A
11g.71441276T>ACA381694389DHCR7c.577A>T (p.Thr193Ser)
c.403A>T (p.Thr135Ser)
c.613A>T (p.Thr205Ser)
n.854A>T
c.-9A>T (n.-9A>T)
c.481A>T (p.Thr161Ser)
n.72A>T
11g.71441276T>CCA381694390DHCR7c.577A>G (p.Thr193Ala)
c.403A>G (p.Thr135Ala)
c.613A>G (p.Thr205Ala)
n.854A>G
c.-9A>G (n.-9A>G)
c.481A>G (p.Thr161Ala)
n.72A>G
11g.71441276T>GCA381694391DHCR7c.577A>C (p.Thr193Pro)
c.403A>C (p.Thr135Pro)
c.613A>C (p.Thr205Pro)
n.854A>C
c.-9A>C (n.-9A>C)
c.481A>C (p.Thr161Pro)
n.72A>C
 gnomAD v4
11g.71441277G>ACA6162530DHCR7c.576C>T (p.Ser192=)
c.402C>T (p.Ser134=)
c.612C>T (p.Ser204=)
n.853C>T
c.-10C>T (n.-10C>T)
c.480C>T (p.Ser160=)
n.71C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.71441277G>CCA475518282DHCR7c.576C>G (p.Ser192=)
c.402C>G (p.Ser134=)
c.612C>G (p.Ser204=)
n.853C>G
c.-10C>G (n.-10C>G)
c.480C>G (p.Ser160=)
n.71C>G
11g.71441277G=CA1981489702DHCR7c.576C= (p.Ser192=)
c.402C= (p.Ser134=)
c.612C= (p.Ser204=)
n.853C=
c.-10C= (n.-10C=)
c.480C= (p.Ser160=)
n.71C=
11g.71441277G>TCA475518283DHCR7c.576C>A (p.Ser192=)
c.402C>A (p.Ser134=)
c.612C>A (p.Ser204=)
n.853C>A
c.-10C>A (n.-10C>A)
c.480C>A (p.Ser160=)
n.71C>A
11g.71441278G>ACA6162531DHCR7c.575C>T (p.Ser192Phe)
c.401C>T (p.Ser134Phe)
c.611C>T (p.Ser204Phe)
n.852C>T
c.-11C>T (n.-11C>T)
c.479C>T (p.Ser160Phe)
n.70C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.71441278G>CCA381694392DHCR7c.575C>G (p.Ser192Cys)
c.401C>G (p.Ser134Cys)
c.611C>G (p.Ser204Cys)
n.852C>G
c.-11C>G (n.-11C>G)
c.479C>G (p.Ser160Cys)
n.70C>G
 ClinVar
11g.71441278G=CA1981489703DHCR7c.575C= (p.Ser192=)
c.401C= (p.Ser134=)
c.611C= (p.Ser204=)
n.852C=
c.-11C= (n.-11C=)
c.479C= (p.Ser160=)
n.70C=
11g.71441278G>TCA381694393DHCR7c.575C>A (p.Ser192Tyr)
c.401C>A (p.Ser134Tyr)
c.611C>A (p.Ser204Tyr)
n.852C>A
c.-11C>A (n.-11C>A)
c.479C>A (p.Ser160Tyr)
n.70C>A
11g.71441279A=CA1981489704DHCR7c.574T= (p.Ser192=)
c.400T= (p.Ser134=)
c.610T= (p.Ser204=)
n.851T=
c.-12T= (n.-12T=)
c.478T= (p.Ser160=)
n.69T=
11g.71441279A>CCA381694394DHCR7c.574T>G (p.Ser192Ala)
c.400T>G (p.Ser134Ala)
c.610T>G (p.Ser204Ala)
n.851T>G
c.-12T>G (n.-12T>G)
c.478T>G (p.Ser160Ala)
n.69T>G
11g.71441279A>GCA6162532DHCR7c.574T>C (p.Ser192Pro)
c.400T>C (p.Ser134Pro)
c.610T>C (p.Ser204Pro)
n.851T>C
c.-12T>C (n.-12T>C)
c.478T>C (p.Ser160Pro)
n.69T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71441279A>TCA381694395DHCR7c.574T>A (p.Ser192Thr)
c.400T>A (p.Ser134Thr)
c.610T>A (p.Ser204Thr)
n.851T>A
c.-12T>A (n.-12T>A)
c.478T>A (p.Ser160Thr)
n.69T>A
 gnomAD v4
11g.71441280G>ACA475518285DHCR7c.573C>T (p.Val191=)
c.399C>T (p.Val133=)
c.609C>T (p.Val203=)
n.850C>T
c.-13C>T (n.-13C>T)
c.477C>T (p.Val159=)
n.68C>T
 ClinVar gnomAD v4
11g.71441280G>CCA475518286DHCR7c.573C>G (p.Val191=)
c.399C>G (p.Val133=)
c.609C>G (p.Val203=)
n.850C>G
c.-13C>G (n.-13C>G)
c.477C>G (p.Val159=)
n.68C>G
 ClinVar dbSNP
11g.71441280G>TCA475518287DHCR7c.573C>A (p.Val191=)
c.399C>A (p.Val133=)
c.609C>A (p.Val203=)
n.850C>A
c.-13C>A (n.-13C>A)
c.477C>A (p.Val159=)
n.68C>A
11g.71441281A>CCA381694396DHCR7c.572T>G (p.Val191Gly)
c.398T>G (p.Val133Gly)
c.608T>G (p.Val203Gly)
n.849T>G
c.-14T>G (n.-14T>G)
c.476T>G (p.Val159Gly)
n.67T>G
11g.71441281A>GCA381694397DHCR7c.572T>C (p.Val191Ala)
c.398T>C (p.Val133Ala)
c.608T>C (p.Val203Ala)
n.849T>C
c.-14T>C (n.-14T>C)
c.476T>C (p.Val159Ala)
n.67T>C
11g.71441281A>TCA381694398DHCR7c.572T>A (p.Val191Asp)
c.398T>A (p.Val133Asp)
c.608T>A (p.Val203Asp)
n.849T>A
c.-14T>A (n.-14T>A)
c.476T>A (p.Val159Asp)
n.67T>A
11g.71441282C>ACA381694399DHCR7c.571G>T (p.Val191Phe)
c.397G>T (p.Val133Phe)
c.607G>T (p.Val203Phe)
n.848G>T
c.-15G>T (n.-15G>T)
c.475G>T (p.Val159Phe)
n.66G>T
11g.71441282C=CA1981489705DHCR7c.571G= (p.Val191=)
c.397G= (p.Val133=)
c.607G= (p.Val203=)
n.848G=
c.-15G= (n.-15G=)
c.475G= (p.Val159=)
n.66G=
11g.71441282C>GCA381694400DHCR7c.571G>C (p.Val191Leu)
c.397G>C (p.Val133Leu)
c.607G>C (p.Val203Leu)
n.848G>C
c.-15G>C (n.-15G>C)
c.475G>C (p.Val159Leu)
n.66G>C
11g.71441282C>TCA6162533DHCR7c.571G>A (p.Val191Ile)
c.397G>A (p.Val133Ile)
c.607G>A (p.Val203Ile)
n.848G>A
c.-15G>A (n.-15G>A)
c.475G>A (p.Val159Ile)
n.66G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71441283G>ACA6162534DHCR7c.570C>T (p.Ala190=)
c.396C>T (p.Ala132=)
c.606C>T (p.Ala202=)
n.847C>T
c.-16C>T (n.-16C>T)
c.474C>T (p.Ala158=)
n.65C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71441283G>CCA475518288DHCR7c.570C>G (p.Ala190=)
c.396C>G (p.Ala132=)
c.606C>G (p.Ala202=)
n.847C>G
c.-16C>G (n.-16C>G)
c.474C>G (p.Ala158=)
n.65C>G
 ClinVar dbSNP gnomAD v4
11g.71441283G=CA1981489706DHCR7c.570C= (p.Ala190=)
c.396C= (p.Ala132=)
c.606C= (p.Ala202=)
n.847C=
c.-16C= (n.-16C=)
c.474C= (p.Ala158=)
n.65C=
11g.71441283G>TCA475518289DHCR7c.570C>A (p.Ala190=)
c.396C>A (p.Ala132=)
c.606C>A (p.Ala202=)
n.847C>A
c.-16C>A (n.-16C>A)
c.474C>A (p.Ala158=)
n.65C>A
11g.71441284G>ACA6162535DHCR7c.569C>T (p.Ala190Val)
c.395C>T (p.Ala132Val)
c.605C>T (p.Ala202Val)
n.846C>T
c.-17C>T (n.-17C>T)
c.473C>T (p.Ala158Val)
n.64C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
11g.71441284G>CCA381694402DHCR7c.569C>G (p.Ala190Gly)
c.395C>G (p.Ala132Gly)
c.605C>G (p.Ala202Gly)
n.846C>G
c.-17C>G (n.-17C>G)
c.473C>G (p.Ala158Gly)
n.64C>G
11g.71441284G=CA1981489707DHCR7c.569C= (p.Ala190=)
c.395C= (p.Ala132=)
c.605C= (p.Ala202=)
n.846C=
c.-17C= (n.-17C=)
c.473C= (p.Ala158=)
n.64C=
11g.71441284G>TCA381694401DHCR7c.569C>A (p.Ala190Asp)
c.395C>A (p.Ala132Asp)
c.605C>A (p.Ala202Asp)
n.846C>A
c.-17C>A (n.-17C>A)
c.473C>A (p.Ala158Asp)
n.64C>A
11g.71441285C>ACA381694405DHCR7c.568G>T (p.Ala190Ser)
c.394G>T (p.Ala132Ser)
c.604G>T (p.Ala202Ser)
n.845G>T
c.-18G>T (n.-18G>T)
c.472G>T (p.Ala158Ser)
n.63G>T
11g.71441285C>GCA381694403DHCR7c.568G>C (p.Ala190Pro)
c.394G>C (p.Ala132Pro)
c.604G>C (p.Ala202Pro)
n.845G>C
c.-18G>C (n.-18G>C)
c.472G>C (p.Ala158Pro)
n.63G>C
11g.71441285C>TCA381694404DHCR7c.568G>A (p.Ala190Thr)
c.394G>A (p.Ala132Thr)
c.604G>A (p.Ala202Thr)
n.845G>A
c.-18G>A (n.-18G>A)
c.472G>A (p.Ala158Thr)
n.63G>A
11g.71441286A>CCA381694406DHCR7c.567T>G (p.Tyr189Ter)
c.393T>G (p.Tyr131Ter)
c.603T>G (p.Tyr201Ter)
n.844T>G
c.-19T>G (n.-19T>G)
c.471T>G (p.Tyr157Ter)
n.62T>G
11g.71441286A>GCA475518290DHCR7c.567T>C (p.Tyr189=)
c.393T>C (p.Tyr131=)
c.603T>C (p.Tyr201=)
n.844T>C
c.-19T>C (n.-19T>C)
c.471T>C (p.Tyr157=)
n.62T>C
11g.71441286A>TCA381694407DHCR7c.567T>A (p.Tyr189Ter)
c.393T>A (p.Tyr131Ter)
c.603T>A (p.Tyr201Ter)
n.844T>A
c.-19T>A (n.-19T>A)
c.471T>A (p.Tyr157Ter)
n.62T>A
 ClinVar
11g.71441287T>ACA381694408DHCR7c.566A>T (p.Tyr189Phe)
c.392A>T (p.Tyr131Phe)
c.602A>T (p.Tyr201Phe)
n.843A>T
c.-20A>T (n.-20A>T)
c.470A>T (p.Tyr157Phe)
n.61A>T
11g.71441287T>CCA381694409DHCR7c.566A>G (p.Tyr189Cys)
c.392A>G (p.Tyr131Cys)
c.602A>G (p.Tyr201Cys)
n.843A>G
c.-20A>G (n.-20A>G)
c.470A>G (p.Tyr157Cys)
n.61A>G
 dbSNP gnomAD v4
11g.71441287T>GCA381694410DHCR7c.566A>C (p.Tyr189Ser)
c.392A>C (p.Tyr131Ser)
c.602A>C (p.Tyr201Ser)
n.843A>C
c.-20A>C (n.-20A>C)
c.470A>C (p.Tyr157Ser)
n.61A>C
11g.71441288A>CCA381694411DHCR7c.565T>G (p.Tyr189Asp)
c.391T>G (p.Tyr131Asp)
c.601T>G (p.Tyr201Asp)
n.842T>G
c.-21T>G (n.-21T>G)
c.469T>G (p.Tyr157Asp)
n.60T>G
11g.71441288A>GCA381694412DHCR7c.565T>C (p.Tyr189His)
c.391T>C (p.Tyr131His)
c.601T>C (p.Tyr201His)
n.842T>C
c.-21T>C (n.-21T>C)
c.469T>C (p.Tyr157His)
n.60T>C
11g.71441288A>TCA381694413DHCR7c.565T>A (p.Tyr189Asn)
c.391T>A (p.Tyr131Asn)
c.601T>A (p.Tyr201Asn)
n.842T>A
c.-21T>A (n.-21T>A)
c.469T>A (p.Tyr157Asn)
n.60T>A
11g.71441289G>ACA475518291DHCR7c.564C>T (p.Gly188=)
c.390C>T (p.Gly130=)
c.600C>T (p.Gly200=)
n.841C>T
c.-22C>T (n.-22C>T)
c.468C>T (p.Gly156=)
n.59C>T
11g.71441289G>CCA475518292DHCR7c.564C>G (p.Gly188=)
c.390C>G (p.Gly130=)
c.600C>G (p.Gly200=)
n.841C>G
c.-22C>G (n.-22C>G)
c.468C>G (p.Gly156=)
n.59C>G
11g.71441289G>TCA475518293DHCR7c.564C>A (p.Gly188=)
c.390C>A (p.Gly130=)
c.600C>A (p.Gly200=)
n.841C>A
c.-22C>A (n.-22C>A)
c.468C>A (p.Gly156=)
n.59C>A
11g.71441290C>ACA381694414DHCR7c.563G>T (p.Gly188Val)
c.389G>T (p.Gly130Val)
c.599G>T (p.Gly200Val)
n.840G>T
c.-23G>T (n.-23G>T)
c.467G>T (p.Gly156Val)
n.58G>T
 dbSNP gnomAD v2 gnomAD v4
11g.71441290C=CA1981489708DHCR7c.563G= (p.Gly188=)
c.389G= (p.Gly130=)
c.599G= (p.Gly200=)
n.840G=
c.-23G= (n.-23G=)
c.467G= (p.Gly156=)
n.58G=
11g.71441290C>GCA381694415DHCR7c.563G>C (p.Gly188Ala)
c.389G>C (p.Gly130Ala)
c.599G>C (p.Gly200Ala)
n.840G>C
c.-23G>C (n.-23G>C)
c.467G>C (p.Gly156Ala)
n.58G>C
11g.71441290C>TCA381694416DHCR7c.563G>A (p.Gly188Asp)
c.389G>A (p.Gly130Asp)
c.599G>A (p.Gly200Asp)
n.840G>A
c.-23G>A (n.-23G>A)
c.467G>A (p.Gly156Asp)
n.58G>A
11g.71441291C>ACA381694417DHCR7c.562G>T (p.Gly188Cys)
c.388G>T (p.Gly130Cys)
c.598G>T (p.Gly200Cys)
n.839G>T
c.-24G>T (n.-24G>T)
c.466G>T (p.Gly156Cys)
n.57G>T
11g.71441291C>GCA381694419DHCR7c.562G>C (p.Gly188Arg)
c.388G>C (p.Gly130Arg)
c.598G>C (p.Gly200Arg)
n.839G>C
c.-24G>C (n.-24G>C)
c.466G>C (p.Gly156Arg)
n.57G>C
11g.71441291C>TCA381694418DHCR7c.562G>A (p.Gly188Ser)
c.388G>A (p.Gly130Ser)
c.598G>A (p.Gly200Ser)
n.839G>A
c.-24G>A (n.-24G>A)
c.466G>A (p.Gly156Ser)
n.57G>A
11g.71441292A>CCA475518294DHCR7c.561T>G (p.Leu187=)
c.387T>G (p.Leu129=)
c.597T>G (p.Leu199=)
n.838T>G
c.-25T>G (n.-25T>G)
c.465T>G (p.Leu155=)
n.56T>G
11g.71441292A>GCA475518295DHCR7c.561T>C (p.Leu187=)
c.387T>C (p.Leu129=)
c.597T>C (p.Leu199=)
n.838T>C
c.-25T>C (n.-25T>C)
c.465T>C (p.Leu155=)
n.56T>C
11g.71441292A>TCA475518296DHCR7c.561T>A (p.Leu187=)
c.387T>A (p.Leu129=)
c.597T>A (p.Leu199=)
n.838T>A
c.-25T>A (n.-25T>A)
c.465T>A (p.Leu155=)
n.56T>A
11g.71441293A=CA1981489709DHCR7c.560T= (p.Leu187=)
c.386T= (p.Leu129=)
c.596T= (p.Leu199=)
n.837T=
c.-26T= (n.-26T=)
c.464T= (p.Leu155=)
n.55T=
11g.71441293A>CCA381694420DHCR7c.560T>G (p.Leu187Arg)
c.386T>G (p.Leu129Arg)
c.596T>G (p.Leu199Arg)
n.837T>G
c.-26T>G (n.-26T>G)
c.464T>G (p.Leu155Arg)
n.55T>G
11g.71441293A>GCA381694421DHCR7c.560T>C (p.Leu187Pro)
c.386T>C (p.Leu129Pro)
c.596T>C (p.Leu199Pro)
n.837T>C
c.-26T>C (n.-26T>C)
c.464T>C (p.Leu155Pro)
n.55T>C
 ClinVar dbSNP
11g.71441293A>TCA381694422DHCR7c.560T>A (p.Leu187His)
c.386T>A (p.Leu129His)
c.596T>A (p.Leu199His)
n.837T>A
c.-26T>A (n.-26T>A)
c.464T>A (p.Leu155His)
n.55T>A
11g.71441294G>ACA381694423DHCR7c.559C>T (p.Leu187Phe)
c.385C>T (p.Leu129Phe)
c.595C>T (p.Leu199Phe)
n.836C>T
c.-27C>T (n.-27C>T)
c.463C>T (p.Leu155Phe)
n.54C>T
11g.71441294G>CCA381694424DHCR7c.559C>G (p.Leu187Val)
c.385C>G (p.Leu129Val)
c.595C>G (p.Leu199Val)
n.836C>G
c.-27C>G (n.-27C>G)
c.463C>G (p.Leu155Val)
n.54C>G
11g.71441294G>TCA381694425DHCR7c.559C>A (p.Leu187Ile)
c.385C>A (p.Leu129Ile)
c.595C>A (p.Leu199Ile)
n.836C>A
c.-27C>A (n.-27C>A)
c.463C>A (p.Leu155Ile)
n.54C>A
11g.71441295G>ACA6162536DHCR7c.558C>T (p.Ile186=)
c.384C>T (p.Ile128=)
c.594C>T (p.Ile198=)
n.835C>T
c.-28C>T (n.-28C>T)
c.462C>T (p.Ile154=)
n.53C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
11g.71441295G>CCA381694426DHCR7c.558C>G (p.Ile186Met)
c.384C>G (p.Ile128Met)
c.594C>G (p.Ile198Met)
n.835C>G
c.-28C>G (n.-28C>G)
c.462C>G (p.Ile154Met)
n.53C>G
 dbSNP gnomAD v3 gnomAD v4
11g.71441295G=CA1981489710DHCR7c.558C= (p.Ile186=)
c.384C= (p.Ile128=)
c.594C= (p.Ile198=)
n.835C=
c.-28C= (n.-28C=)
c.462C= (p.Ile154=)
n.53C=
11g.71441295G>TCA475518297DHCR7c.558C>A (p.Ile186=)
c.384C>A (p.Ile128=)
c.594C>A (p.Ile198=)
n.835C>A
c.-28C>A (n.-28C>A)
c.462C>A (p.Ile154=)
n.53C>A
11g.71441296A=CA1981489711DHCR7c.557T= (p.Ile186=)
c.383T= (p.Ile128=)
c.593T= (p.Ile198=)
n.834T=
c.-29T= (n.-29T=)
c.461T= (p.Ile154=)
n.52T=
11g.71441296A>CCA381694427DHCR7c.557T>G (p.Ile186Ser)
c.383T>G (p.Ile128Ser)
c.593T>G (p.Ile198Ser)
n.834T>G
c.-29T>G (n.-29T>G)
c.461T>G (p.Ile154Ser)
n.52T>G
11g.71441296A>GCA381694428DHCR7c.557T>C (p.Ile186Thr)
c.383T>C (p.Ile128Thr)
c.593T>C (p.Ile198Thr)
n.834T>C
c.-29T>C (n.-29T>C)
c.461T>C (p.Ile154Thr)
n.52T>C
 gnomAD v4
11g.71441296A>TCA381694429DHCR7c.557T>A (p.Ile186Asn)
c.383T>A (p.Ile128Asn)
c.593T>A (p.Ile198Asn)
n.834T>A
c.-29T>A (n.-29T>A)
c.461T>A (p.Ile154Asn)
n.52T>A
 dbSNP gnomAD v2 gnomAD v4
11g.71441297T>ACA381694431DHCR7c.556A>T (p.Ile186Phe)
c.382A>T (p.Ile128Phe)
c.592A>T (p.Ile198Phe)
n.833A>T
c.-30A>T (n.-30A>T)
c.460A>T (p.Ile154Phe)
n.51A>T
11g.71441297T>CCA381694432DHCR7c.556A>G (p.Ile186Val)
c.382A>G (p.Ile128Val)
c.592A>G (p.Ile198Val)
n.833A>G
c.-30A>G (n.-30A>G)
c.460A>G (p.Ile154Val)
n.51A>G
11g.71441297T>GCA381694430DHCR7c.556A>C (p.Ile186Leu)
c.382A>C (p.Ile128Leu)
c.592A>C (p.Ile198Leu)
n.833A>C
c.-30A>C (n.-30A>C)
c.460A>C (p.Ile154Leu)
n.51A>C
11g.71441299_71441301dupCA2614860516DHCR7c.554_556dup (p.Asn185_Ile186insAsn)
c.380_382dup (p.Asn127_Ile128insAsn)
c.590_592dup (p.Asn197_Ile198insAsn)
n.831_833dup
c.-32_-30dup (n.-32_-30dup)
c.458_460dup (p.Asn153_Ile154insAsn)
n.49_51dup
 gnomAD v4
11g.71441298G>ACA475518298DHCR7c.555C>T (p.Asn185=)
c.381C>T (p.Asn127=)
c.591C>T (p.Asn197=)
n.832C>T
c.-31C>T (n.-31C>T)
c.459C>T (p.Asn153=)
n.50C>T
 ClinVar dbSNP gnomAD v4
11g.71441298G>CCA381694433DHCR7c.555C>G (p.Asn185Lys)
c.381C>G (p.Asn127Lys)
c.591C>G (p.Asn197Lys)
n.832C>G
c.-31C>G (n.-31C>G)
c.459C>G (p.Asn153Lys)
n.50C>G
11g.71441298G=CA1981489712DHCR7c.555C= (p.Asn185=)
c.381C= (p.Asn127=)
c.591C= (p.Asn197=)
n.832C=
c.-31C= (n.-31C=)
c.459C= (p.Asn153=)
n.50C=
11g.71441298G>TCA381694434DHCR7c.555C>A (p.Asn185Lys)
c.381C>A (p.Asn127Lys)
c.591C>A (p.Asn197Lys)
n.832C>A
c.-31C>A (n.-31C>A)
c.459C>A (p.Asn153Lys)
n.50C>A
11g.71441299T>ACA381694435DHCR7c.554A>T (p.Asn185Ile)
c.380A>T (p.Asn127Ile)
c.590A>T (p.Asn197Ile)
n.831A>T
c.-32A>T (n.-32A>T)
c.458A>T (p.Asn153Ile)
n.49A>T
11g.71441299T>CCA381694436DHCR7c.554A>G (p.Asn185Ser)
c.380A>G (p.Asn127Ser)
c.590A>G (p.Asn197Ser)
n.831A>G
c.-32A>G (n.-32A>G)
c.458A>G (p.Asn153Ser)
n.49A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71441299T>GCA381694437DHCR7c.554A>C (p.Asn185Thr)
c.380A>C (p.Asn127Thr)
c.590A>C (p.Asn197Thr)
n.831A>C
c.-32A>C (n.-32A>C)
c.458A>C (p.Asn153Thr)
n.49A>C
11g.71441299T=CA1981489713DHCR7c.554A= (p.Asn185=)
c.380A= (p.Asn127=)
c.590A= (p.Asn197=)
n.831A=
c.-32A= (n.-32A=)
c.458A= (p.Asn153=)
n.49A=
11g.71441300T>ACA381694440DHCR7c.553A>T (p.Asn185Tyr)
c.379A>T (p.Asn127Tyr)
c.589A>T (p.Asn197Tyr)
n.830A>T
c.-33A>T (n.-33A>T)
c.457A>T (p.Asn153Tyr)
n.48A>T
11g.71441300T>CCA381694439DHCR7c.553A>G (p.Asn185Asp)
c.379A>G (p.Asn127Asp)
c.589A>G (p.Asn197Asp)
n.830A>G
c.-33A>G (n.-33A>G)
c.457A>G (p.Asn153Asp)
n.48A>G
11g.71441300T>GCA381694438DHCR7c.553A>C (p.Asn185His)
c.379A>C (p.Asn127His)
c.589A>C (p.Asn197His)
n.830A>C
c.-33A>C (n.-33A>C)
c.457A>C (p.Asn153His)
n.48A>C
11g.71441301G>ACA475518299DHCR7c.552C>T (p.Ala184=)
c.378C>T (p.Ala126=)
c.588C>T (p.Ala196=)
n.829C>T
c.-34C>T (n.-34C>T)
c.456C>T (p.Ala152=)
n.47C>T
 ClinVar dbSNP
11g.71441301G>CCA475518301DHCR7c.552C>G (p.Ala184=)
c.378C>G (p.Ala126=)
c.588C>G (p.Ala196=)
n.829C>G
c.-34C>G (n.-34C>G)
c.456C>G (p.Ala152=)
n.47C>G
11g.71441301G=CA1981489714DHCR7c.552C= (p.Ala184=)
c.378C= (p.Ala126=)
c.588C= (p.Ala196=)
n.829C=
c.-34C= (n.-34C=)
c.456C= (p.Ala152=)
n.47C=
11g.71441301G>TCA475518300DHCR7c.552C>A (p.Ala184=)
c.378C>A (p.Ala126=)
c.588C>A (p.Ala196=)
n.829C>A
c.-34C>A (n.-34C>A)
c.456C>A (p.Ala152=)
n.47C>A
11g.71441302G>ACA381694441DHCR7c.551C>T (p.Ala184Val)
c.377C>T (p.Ala126Val)
c.587C>T (p.Ala196Val)
n.828C>T
c.-35C>T (n.-35C>T)
c.455C>T (p.Ala152Val)
n.46C>T
 gnomAD v4
11g.71441302G>CCA381694442DHCR7c.551C>G (p.Ala184Gly)
c.377C>G (p.Ala126Gly)
c.587C>G (p.Ala196Gly)
n.828C>G
c.-35C>G (n.-35C>G)
c.455C>G (p.Ala152Gly)
n.46C>G
11g.71441302G>TCA381694443DHCR7c.551C>A (p.Ala184Asp)
c.377C>A (p.Ala126Asp)
c.587C>A (p.Ala196Asp)
n.828C>A
c.-35C>A (n.-35C>A)
c.455C>A (p.Ala152Asp)
n.46C>A
11g.71441303C>ACA381694444DHCR7c.550G>T (p.Ala184Ser)
c.376G>T (p.Ala126Ser)
c.586G>T (p.Ala196Ser)
n.827G>T
c.-36G>T (n.-36G>T)
c.454G>T (p.Ala152Ser)
n.45G>T
11g.71441303C=CA1981489715DHCR7c.550G= (p.Ala184=)
c.376G= (p.Ala126=)
c.586G= (p.Ala196=)
n.827G=
c.-36G= (n.-36G=)
c.454G= (p.Ala152=)
n.45G=
11g.71441303C>GCA381694445DHCR7c.550G>C (p.Ala184Pro)
c.376G>C (p.Ala126Pro)
c.586G>C (p.Ala196Pro)
n.827G>C
c.-36G>C (n.-36G>C)
c.454G>C (p.Ala152Pro)
n.45G>C
11g.71441303C>TCA224279790DHCR7c.550G>A (p.Ala184Thr)
c.376G>A (p.Ala126Thr)
c.586G>A (p.Ala196Thr)
n.827G>A
c.-36G>A (n.-36G>A)
c.454G>A (p.Ala152Thr)
n.45G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71441304G>ACA6162537DHCR7c.549C>T (p.Cys183=)
c.375C>T (p.Cys125=)
c.585C>T (p.Cys195=)
n.826C>T
c.-37C>T (n.-37C>T)
c.453C>T (p.Cys151=)
n.44C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71441304G>CCA381694447DHCR7c.549C>G (p.Cys183Trp)
c.375C>G (p.Cys125Trp)
c.585C>G (p.Cys195Trp)
n.826C>G
c.-37C>G (n.-37C>G)
c.453C>G (p.Cys151Trp)
n.44C>G
11g.71441304G=CA1981489716DHCR7c.549C= (p.Cys183=)
c.375C= (p.Cys125=)
c.585C= (p.Cys195=)
n.826C=
c.-37C= (n.-37C=)
c.453C= (p.Cys151=)
n.44C=
11g.71441304G>TCA381694446DHCR7c.549C>A (p.Cys183Ter)
c.375C>A (p.Cys125Ter)
c.585C>A (p.Cys195Ter)
n.826C>A
c.-37C>A (n.-37C>A)
c.453C>A (p.Cys151Ter)
n.44C>A
11g.71441305C>ACA381694448DHCR7c.548G>T (p.Cys183Phe)
c.374G>T (p.Cys125Phe)
c.584G>T (p.Cys195Phe)
n.825G>T
c.-38G>T (n.-38G>T)
c.452G>T (p.Cys151Phe)
n.43G>T
11g.71441305C>GCA381694449DHCR7c.548G>C (p.Cys183Ser)
c.374G>C (p.Cys125Ser)
c.584G>C (p.Cys195Ser)
n.825G>C
c.-38G>C (n.-38G>C)
c.452G>C (p.Cys151Ser)
n.43G>C
11g.71441305C>TCA381694450DHCR7c.548G>A (p.Cys183Tyr)
c.374G>A (p.Cys125Tyr)
c.584G>A (p.Cys195Tyr)
n.825G>A
c.-38G>A (n.-38G>A)
c.452G>A (p.Cys151Tyr)
n.43G>A
 ClinVar dbSNP gnomAD v4
11g.71441308_71441310delCA2614860532DHCR7c.546_548del (p.Trp182del)
c.372_374del (p.Trp124del)
c.582_584del (p.Trp194del)
n.823_825del
c.-40_-38del (n.-40_-38del)
c.450_452del (p.Trp150del)
n.41_43del
 ClinVar gnomAD v4
11g.71441306A>CCA381694451DHCR7c.547T>G (p.Cys183Gly)
c.373T>G (p.Cys125Gly)
c.583T>G (p.Cys195Gly)
n.824T>G
c.-39T>G (n.-39T>G)
c.451T>G (p.Cys151Gly)
n.42T>G
11g.71441306A>GCA381694452DHCR7c.547T>C (p.Cys183Arg)
c.373T>C (p.Cys125Arg)
c.583T>C (p.Cys195Arg)
n.824T>C
c.-39T>C (n.-39T>C)
c.451T>C (p.Cys151Arg)
n.42T>C
11g.71441306A>TCA381694453DHCR7c.547T>A (p.Cys183Ser)
c.373T>A (p.Cys125Ser)
c.583T>A (p.Cys195Ser)
n.824T>A
c.-39T>A (n.-39T>A)
c.451T>A (p.Cys151Ser)
n.42T>A
11g.71441307C>ACA381694454DHCR7c.546G>T (p.Trp182Cys)
c.372G>T (p.Trp124Cys)
c.582G>T (p.Trp194Cys)
n.823G>T
c.-40G>T (n.-40G>T)
c.450G>T (p.Trp150Cys)
n.41G>T
 ClinVar
11g.71441307C=CA1981489717DHCR7c.546G= (p.Trp182=)
c.372G= (p.Trp124=)
c.582G= (p.Trp194=)
n.823G=
c.-40G= (n.-40G=)
c.450G= (p.Trp150=)
n.41G=
11g.71441307C>GCA381694455DHCR7c.546G>C (p.Trp182Cys)
c.372G>C (p.Trp124Cys)
c.582G>C (p.Trp194Cys)
n.823G>C
c.-40G>C (n.-40G>C)
c.450G>C (p.Trp150Cys)
n.41G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.71441307C>TCA224279792DHCR7c.546G>A (p.Trp182Ter)
c.372G>A (p.Trp124Ter)
c.582G>A (p.Trp194Ter)
n.823G>A
c.-40G>A (n.-40G>A)
c.450G>A (p.Trp150Ter)
n.41G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71441308C>ACA381694456DHCR7c.545G>T (p.Trp182Leu)
c.371G>T (p.Trp124Leu)
c.581G>T (p.Trp194Leu)
n.822G>T
c.-41G>T (n.-41G>T)
c.449G>T (p.Trp150Leu)
n.40G>T
 dbSNP
11g.71441308C=CA1981489718DHCR7c.545G= (p.Trp182=)
c.371G= (p.Trp124=)
c.581G= (p.Trp194=)
n.822G=
c.-41G= (n.-41G=)
c.449G= (p.Trp150=)
n.40G=
11g.71441308C>GCA381694457DHCR7c.545G>C (p.Trp182Ser)
c.371G>C (p.Trp124Ser)
c.581G>C (p.Trp194Ser)
n.822G>C
c.-41G>C (n.-41G>C)
c.449G>C (p.Trp150Ser)
n.40G>C
11g.71441308C>TCA6162538DHCR7c.545G>A (p.Trp182Ter)
c.371G>A (p.Trp124Ter)
c.581G>A (p.Trp194Ter)
n.822G>A
c.-41G>A (n.-41G>A)
c.449G>A (p.Trp150Ter)
n.40G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched