Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.24204860_24205385delinsGTTTTTAAGGTTGATCAGCCACATAGTACCTTAGAGGGTTTAATTCATACAGGTATAGGAACAATTTGTAGGAGATAACACAAAACTTGGAAAAAAAACACTATAATTGTCTTACACATATTTTTTAAGGCATGGAGATTACCTGATCGACTGGAACCTCAACCTGAGTATCTTCATCTTCTTGGACTTCTGCTGCCCCCCGTGTTTCAGACCTCTCTGCTCCAGCTTTGAAAATGCCTTCATCTATTGAGACAAACACACAGTGAAAATCAAAATCCAATTGTGACATCGTGTGGCTGAATGCTGGAATTACAATCAAATGCTTATTTTTAATAGACATTTGGATTCCCTTTTTAGTTGATAGTATTTTTGTGCACCCCCTCCTCCGACCACCACACCACCCCCAGTTGTTCCACATTTTCATTGAGAAAACATTCAGTGGTCAAAACAAGGCTGACCCAGCAGGGTAAAGTTCTGTCGAAGCTCCTGTTCACCCTTTGGCTACTGATTTACTAACATAGCCCTTCA1616385196DCDC2c.923-283_1023+142delinsAAGGGCTATGTTAGTAAATCAGTAGCCAAAGGGTGAACAGGAGCTTCGACAGAACTTTACCCTGCTGGGTCAGCCTTGTTTTGACCACTGAATGTTTTCTCAATGAAAATGTGGAACAACTGGGGGTGGTGTGGTGGTCGGAGGAGGGGGTGCACAAAAATACTATCAACTAAAAAGGGAATCCAAATGTCTATTAAAAATAAGCATTTGATTGTAATTCCAGCATTCAGCCACACGATGTCACAATTGGATTTTGATTTTCACTGTGTGTTTGTCTCAATAGATGAAGGCATTTTCAAAGCTGGAGCAGAGAGGTCTGAAACACGGGGGGCAGCAGAAGTCCAAGAAGATGAAGATACTCAGGTTGAGGTTCCAGTCGATCAGGTAATCTCCATGCCTTAAAAAATATGTGTAAGACAATTATAGTGTTTTTTTTCCAAGTTTTGTGTTATCTCCTACAAATTGTTCCTATACCTGTATGAATTAAACCCTCTAAGGTACTATGTGGCTGATCAACCTTAAAAAC
6g.24204862_24205386delCA1139659452DCDC2c.923-283_1023+141del
ClinVar dbSNP
6g.24205022C>ACA363277423DCDC2c.1003G>T (p.Val335Phe)
c.262G>T (p.Val88Phe)
gnomAD v4
6g.24205022C=CA1616385259DCDC2c.1003G= (p.Val335=)
c.262G= (p.Val88=)
6g.24205022C>GCA363277424DCDC2c.1003G>C (p.Val335Leu)
c.262G>C (p.Val88Leu)
gnomAD v4
6g.24205022C>TCA363277425DCDC2c.1003G>A (p.Val335Ile)
c.262G>A (p.Val88Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24205023C>ACA363277427DCDC2c.1002G>T (p.Gln334His)
c.261G>T (p.Gln87His)
6g.24205023C>GCA363277426DCDC2c.1002G>C (p.Gln334His)
c.261G>C (p.Gln87His)
6g.24205023C>TCA448963305DCDC2c.1002G>A (p.Gln334=)
c.261G>A (p.Gln87=)
6g.24205024T>ACA363277428DCDC2c.1001A>T (p.Gln334Leu)
c.260A>T (p.Gln87Leu)
6g.24205024T>CCA363277429DCDC2c.1001A>G (p.Gln334Arg)
c.260A>G (p.Gln87Arg)
gnomAD v4
6g.24205024T>GCA363277430DCDC2c.1001A>C (p.Gln334Pro)
c.260A>C (p.Gln87Pro)
gnomAD v4
6g.24205025G>ACA363277431DCDC2c.1000C>T (p.Gln334Ter)
c.259C>T (p.Gln87Ter)
6g.24205025G>CCA363277432DCDC2c.1000C>G (p.Gln334Glu)
c.259C>G (p.Gln87Glu)
6g.24205025G>TCA363277433DCDC2c.1000C>A (p.Gln334Lys)
c.259C>A (p.Gln87Lys)
6g.24205026A=CA1616385260DCDC2c.999T= (p.Thr333=)
c.258T= (p.Thr86=)
6g.24205026A>CCA448963308DCDC2c.999T>G (p.Thr333=)
c.258T>G (p.Thr86=)
ClinVar dbSNP gnomAD v3 gnomAD v4
6g.24205026A>GCA448963309DCDC2c.999T>C (p.Thr333=)
c.258T>C (p.Thr86=)
6g.24205026A>TCA448963307DCDC2c.999T>A (p.Thr333=)
c.258T>A (p.Thr86=)
6g.24205027G>ACA363277434DCDC2c.998C>T (p.Thr333Ile)
c.257C>T (p.Thr86Ile)
6g.24205027G>CCA363277436DCDC2c.998C>G (p.Thr333Ser)
c.257C>G (p.Thr86Ser)
6g.24205027G=CA1616385261DCDC2c.998C= (p.Thr333=)
c.257C= (p.Thr86=)
6g.24205027G>TCA363277435DCDC2c.998C>A (p.Thr333Asn)
c.257C>A (p.Thr86Asn)
dbSNP gnomAD v2 gnomAD v4
6g.24205028T>ACA363277437DCDC2c.997A>T (p.Thr333Ser)
c.256A>T (p.Thr86Ser)
6g.24205028T>CCA363277438DCDC2c.997A>G (p.Thr333Ala)
c.256A>G (p.Thr86Ala)
dbSNP
6g.24205028T>GCA363277439DCDC2c.997A>C (p.Thr333Pro)
c.256A>C (p.Thr86Pro)
6g.24205028T=CA1616385262DCDC2c.997A= (p.Thr333=)
c.256A= (p.Thr86=)
6g.24205029A=CA1616385263DCDC2c.996T= (p.Asp332=)
c.255T= (p.Asp85=)
6g.24205029A>CCA363277440DCDC2c.996T>G (p.Asp332Glu)
c.255T>G (p.Asp85Glu)
6g.24205029A>GCA448963313DCDC2c.996T>C (p.Asp332=)
c.255T>C (p.Asp85=)
dbSNP
6g.24205029A>TCA363277441DCDC2c.996T>A (p.Asp332Glu)
c.255T>A (p.Asp85Glu)
6g.24205030T>ACA363277442DCDC2c.995A>T (p.Asp332Val)
c.254A>T (p.Asp85Val)
COSMIC COSMIC
6g.24205030T>CCA3654544DCDC2c.995A>G (p.Asp332Gly)
c.254A>G (p.Asp85Gly)
dbSNP ExAC gnomAD v4
6g.24205030T>GCA363277443DCDC2c.995A>C (p.Asp332Ala)
c.254A>C (p.Asp85Ala)
6g.24205030T=CA1616385264DCDC2c.995A= (p.Asp332=)
c.254A= (p.Asp85=)
6g.24205031C>ACA363277444DCDC2c.994G>T (p.Asp332Tyr)
c.253G>T (p.Asp85Tyr)
COSMIC
6g.24205031C>GCA363277445DCDC2c.994G>C (p.Asp332His)
c.253G>C (p.Asp85His)
6g.24205031C>TCA363277446DCDC2c.994G>A (p.Asp332Asn)
c.253G>A (p.Asp85Asn)
6g.24205032T>ACA363277448DCDC2c.993A>T (p.Glu331Asp)
c.252A>T (p.Glu84Asp)
6g.24205032T>CCA448963317DCDC2c.993A>G (p.Glu331=)
c.252A>G (p.Glu84=)
6g.24205032T>GCA363277447DCDC2c.993A>C (p.Glu331Asp)
c.252A>C (p.Glu84Asp)
6g.24205033T>ACA363277449DCDC2c.992A>T (p.Glu331Val)
c.251A>T (p.Glu84Val)
ClinVar
6g.24205033T>CCA363277451DCDC2c.992A>G (p.Glu331Gly)
c.251A>G (p.Glu84Gly)
gnomAD v4
6g.24205033T>GCA363277450DCDC2c.992A>C (p.Glu331Ala)
c.251A>C (p.Glu84Ala)
6g.24205034C>ACA363277452DCDC2c.991G>T (p.Glu331Ter)
c.250G>T (p.Glu84Ter)
6g.24205034C>GCA363277454DCDC2c.991G>C (p.Glu331Gln)
c.250G>C (p.Glu84Gln)
6g.24205034C>TCA363277453DCDC2c.991G>A (p.Glu331Lys)
c.250G>A (p.Glu84Lys)
6g.24205035A>CCA363277455DCDC2c.990T>G (p.Asp330Glu)
c.249T>G (p.Asp83Glu)
6g.24205035A>GCA448963319DCDC2c.990T>C (p.Asp330=)
c.249T>C (p.Asp83=)
gnomAD v4
6g.24205035A>TCA363277456DCDC2c.990T>A (p.Asp330Glu)
c.249T>A (p.Asp83Glu)
6g.24205036T>ACA363277457DCDC2c.989A>T (p.Asp330Val)
c.248A>T (p.Asp83Val)
gnomAD v4
6g.24205036T>CCA363277458DCDC2c.989A>G (p.Asp330Gly)
c.248A>G (p.Asp83Gly)
dbSNP gnomAD v3 gnomAD v4
6g.24205036T>GCA363277459DCDC2c.989A>C (p.Asp330Ala)
c.248A>C (p.Asp83Ala)
6g.24205036T=CA1616385265DCDC2c.989A= (p.Asp330=)
c.248A= (p.Asp83=)
6g.24205037C>ACA363277460DCDC2c.988G>T (p.Asp330Tyr)
c.247G>T (p.Asp83Tyr)
6g.24205037C>GCA363277461DCDC2c.988G>C (p.Asp330His)
c.247G>C (p.Asp83His)
6g.24205037C>TCA363277462DCDC2c.988G>A (p.Asp330Asn)
c.247G>A (p.Asp83Asn)
6g.24205038T>ACA363277463DCDC2c.987A>T (p.Glu329Asp)
c.246A>T (p.Glu82Asp)
6g.24205038T>CCA448963320DCDC2c.987A>G (p.Glu329=)
c.246A>G (p.Glu82=)
6g.24205038T>GCA363277464DCDC2c.987A>C (p.Glu329Asp)
c.246A>C (p.Glu82Asp)
6g.24205039T>ACA363277465DCDC2c.986A>T (p.Glu329Val)
c.245A>T (p.Glu82Val)
6g.24205039T>CCA363277466DCDC2c.986A>G (p.Glu329Gly)
c.245A>G (p.Glu82Gly)
6g.24205039T>GCA363277467DCDC2c.986A>C (p.Glu329Ala)
c.245A>C (p.Glu82Ala)
6g.24205040C>ACA363277470DCDC2c.985G>T (p.Glu329Ter)
c.244G>T (p.Glu82Ter)
6g.24205040C>GCA363277468DCDC2c.985G>C (p.Glu329Gln)
c.244G>C (p.Glu82Gln)
6g.24205040C>TCA363277469DCDC2c.985G>A (p.Glu329Lys)
c.244G>A (p.Glu82Lys)
dbSNP gnomAD v4 COSMIC COSMIC
6g.24205041T>ACA363277471DCDC2c.984A>T (p.Gln328His)
c.243A>T (p.Gln81His)
6g.24205041T>CCA448963321DCDC2c.984A>G (p.Gln328=)
c.243A>G (p.Gln81=)
dbSNP
6g.24205041T>GCA363277472DCDC2c.984A>C (p.Gln328His)
c.243A>C (p.Gln81His)
6g.24205041T=CA1616385266DCDC2c.984A= (p.Gln328=)
c.243A= (p.Gln81=)
6g.24205042dupCA2839871220DCDC2c.984dup (p.Glu329ArgfsTer3)
c.243dup (p.Glu82ArgfsTer3)
6g.24205042T>ACA363277473DCDC2c.983A>T (p.Gln328Leu)
c.242A>T (p.Gln81Leu)
6g.24205042T>CCA363277474DCDC2c.983A>G (p.Gln328Arg)
c.242A>G (p.Gln81Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4
6g.24205042T>GCA363277475DCDC2c.983A>C (p.Gln328Pro)
c.242A>C (p.Gln81Pro)
6g.24205042T=CA1616385267DCDC2c.983A= (p.Gln328=)
c.242A= (p.Gln81=)
6g.24205043_24205047dupCA823270874DCDC2c.979_983dup (p.Glu329SerfsTer20)
c.238_242dup (p.Glu82SerfsTer20)
dbSNP gnomAD v3 gnomAD v4
6g.24205043G>ACA363277476DCDC2c.982C>T (p.Gln328Ter)
c.241C>T (p.Gln81Ter)
6g.24205043G>CCA136625685DCDC2c.982C>G (p.Gln328Glu)
c.241C>G (p.Gln81Glu)
dbSNP gnomAD v4
6g.24205043G=CA1616385268DCDC2c.982C= (p.Gln328=)
c.241C= (p.Gln81=)
6g.24205043G>TCA363277477DCDC2c.982C>A (p.Gln328Lys)
c.241C>A (p.Gln81Lys)
6g.24205044G>ACA448963322DCDC2c.981C>T (p.Val327=)
c.240C>T (p.Val80=)
dbSNP
6g.24205044G>CCA448963323DCDC2c.981C>G (p.Val327=)
c.240C>G (p.Val80=)
6g.24205044G>TCA448963324DCDC2c.981C>A (p.Val327=)
c.240C>A (p.Val80=)
6g.24205045A>CCA363277478DCDC2c.980T>G (p.Val327Gly)
c.239T>G (p.Val80Gly)
6g.24205045A>GCA363277479DCDC2c.980T>C (p.Val327Ala)
c.239T>C (p.Val80Ala)
6g.24205045A>TCA363277480DCDC2c.980T>A (p.Val327Asp)
c.239T>A (p.Val80Asp)
6g.24205046C>ACA363277482DCDC2c.979G>T (p.Val327Phe)
c.238G>T (p.Val80Phe)
6g.24205046C=CA1616385269DCDC2c.979G= (p.Val327=)
c.238G= (p.Val80=)
6g.24205046C>GCA363277483DCDC2c.979G>C (p.Val327Leu)
c.238G>C (p.Val80Leu)
6g.24205046C>TCA363277481DCDC2c.979G>A (p.Val327Ile)
c.238G>A (p.Val80Ile)
dbSNP gnomAD v2 gnomAD v4
6g.24205047T>ACA363277484DCDC2c.978A>T (p.Glu326Asp)
c.237A>T (p.Glu79Asp)
6g.24205047T>CCA448963325DCDC2c.978A>G (p.Glu326=)
c.237A>G (p.Glu79=)
6g.24205047T>GCA363277485DCDC2c.978A>C (p.Glu326Asp)
c.237A>C (p.Glu79Asp)
ClinVar dbSNP gnomAD v3 gnomAD v4
6g.24205047T=CA1616385270DCDC2c.978A= (p.Glu326=)
c.237A= (p.Glu79=)
6g.24205048T>ACA363277486DCDC2c.977A>T (p.Glu326Val)
c.236A>T (p.Glu79Val)
6g.24205048T>CCA363277487DCDC2c.977A>G (p.Glu326Gly)
c.236A>G (p.Glu79Gly)
6g.24205048T>GCA363277488DCDC2c.977A>C (p.Glu326Ala)
c.236A>C (p.Glu79Ala)
6g.24205049C>ACA363277489DCDC2c.976G>T (p.Glu326Ter)
c.235G>T (p.Glu79Ter)
6g.24205049C>GCA363277490DCDC2c.976G>C (p.Glu326Gln)
c.235G>C (p.Glu79Gln)
6g.24205049C>TCA363277491DCDC2c.976G>A (p.Glu326Lys)
c.235G>A (p.Glu79Lys)
gnomAD v4
6g.24205050T>ACA448963326DCDC2c.975A>T (p.Ala325=)
c.234A>T (p.Ala78=)
6g.24205050T>CCA448963327DCDC2c.975A>G (p.Ala325=)
c.234A>G (p.Ala78=)
6g.24205050T>GCA448963328DCDC2c.975A>C (p.Ala325=)
c.234A>C (p.Ala78=)
6g.24205051G>ACA363277492DCDC2c.974C>T (p.Ala325Val)
c.233C>T (p.Ala78Val)
6g.24205051G>CCA363277493DCDC2c.974C>G (p.Ala325Gly)
c.233C>G (p.Ala78Gly)
6g.24205051G=CA1616385271DCDC2c.974C= (p.Ala325=)
c.233C= (p.Ala78=)
6g.24205051G>TCA363277494DCDC2c.974C>A (p.Ala325Glu)
c.233C>A (p.Ala78Glu)
dbSNP
6g.24205052C>ACA363277496DCDC2c.973G>T (p.Ala325Ser)
c.232G>T (p.Ala78Ser)
6g.24205052C=CA1616385272DCDC2c.973G= (p.Ala325=)
c.232G= (p.Ala78=)
6g.24205052C>GCA363277497DCDC2c.973G>C (p.Ala325Pro)
c.232G>C (p.Ala78Pro)
6g.24205052C>TCA363277495DCDC2c.973G>A (p.Ala325Thr)
c.232G>A (p.Ala78Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24205053T>ACA448963329DCDC2c.972A>T (p.Ala324=)
c.231A>T (p.Ala77=)
6g.24205053T>CCA448963330DCDC2c.972A>G (p.Ala324=)
c.231A>G (p.Ala77=)
6g.24205053T>GCA448963331DCDC2c.972A>C (p.Ala324=)
c.231A>C (p.Ala77=)
6g.24205054G>ACA363277498DCDC2c.971C>T (p.Ala324Val)
c.230C>T (p.Ala77Val)
gnomAD v4
6g.24205054G>CCA363277499DCDC2c.971C>G (p.Ala324Gly)
c.230C>G (p.Ala77Gly)
6g.24205054G=CA1616385273DCDC2c.971C= (p.Ala324=)
c.230C= (p.Ala77=)
6g.24205054G>TCA363277500DCDC2c.971C>A (p.Ala324Glu)
c.230C>A (p.Ala77Glu)
6g.24205055C>ACA363277503DCDC2c.970G>T (p.Ala324Ser)
c.229G>T (p.Ala77Ser)
ClinVar dbSNP gnomAD v4
6g.24205055C=CA1616385274DCDC2c.970G= (p.Ala324=)
c.229G= (p.Ala77=)
6g.24205055C>GCA363277502DCDC2c.970G>C (p.Ala324Pro)
c.229G>C (p.Ala77Pro)
6g.24205055C>TCA363277501DCDC2c.970G>A (p.Ala324Thr)
c.229G>A (p.Ala77Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24205060dupCA3654545DCDC2c.970dup (p.Ala324GlyfsTer8)
c.229dup (p.Ala77GlyfsTer8)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.24205060delCA645544648DCDC2c.970del (p.Ala324GlnfsTer23)
c.229del (p.Ala77GlnfsTer23)
COSMIC COSMIC
6g.24205056C>ACA448963332DCDC2c.969G>T (p.Gly323=)
c.228G>T (p.Gly76=)
6g.24205056C=CA1616385275DCDC2c.969G= (p.Gly323=)
c.228G= (p.Gly76=)
6g.24205056C>GCA3654546DCDC2c.969G>C (p.Gly323=)
c.228G>C (p.Gly76=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24205056C>TCA448963333DCDC2c.969G>A (p.Gly323=)
c.228G>A (p.Gly76=)
6g.24205057C>ACA3654548DCDC2c.968G>T (p.Gly323Val)
c.227G>T (p.Gly76Val)
dbSNP ExAC gnomAD v2
6g.24205057C=CA1616385276DCDC2c.968G= (p.Gly323=)
c.227G= (p.Gly76=)
6g.24205057C>GCA363277504DCDC2c.968G>C (p.Gly323Ala)
c.227G>C (p.Gly76Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24205057C>TCA3654547DCDC2c.968G>A (p.Gly323Glu)
c.227G>A (p.Gly76Glu)
dbSNP ExAC gnomAD v2
6g.24205058C>ACA363277505DCDC2c.967G>T (p.Gly323Trp)
c.226G>T (p.Gly76Trp)
gnomAD v4
6g.24205058C=CA1616385277DCDC2c.967G= (p.Gly323=)
c.226G= (p.Gly76=)
6g.24205058C>GCA3654550DCDC2c.967G>C (p.Gly323Arg)
c.226G>C (p.Gly76Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24205058C>TCA3654549DCDC2c.967G>A (p.Gly323Arg)
c.226G>A (p.Gly76Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24205059C>ACA448963334DCDC2c.966G>T (p.Arg322=)
c.225G>T (p.Arg75=)
6g.24205059C=CA1616385278DCDC2c.966G= (p.Arg322=)
c.225G= (p.Arg75=)
6g.24205059C>GCA448963335DCDC2c.966G>C (p.Arg322=)
c.225G>C (p.Arg75=)
dbSNP
6g.24205059C>TCA448963336DCDC2c.966G>A (p.Arg322=)
c.225G>A (p.Arg75=)
dbSNP gnomAD v2 gnomAD v4
6g.24205060C>ACA136625686DCDC2c.965G>T (p.Arg322Leu)
c.224G>T (p.Arg75Leu)
dbSNP gnomAD v4
6g.24205060C=CA1616385279DCDC2c.965G= (p.Arg322=)
c.224G= (p.Arg75=)
6g.24205060C>GCA3654551DCDC2c.965G>C (p.Arg322Pro)
c.224G>C (p.Arg75Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24205060C>TCA136625687DCDC2c.965G>A (p.Arg322Gln)
c.224G>A (p.Arg75Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24205061G>ACA3654552DCDC2c.964C>T (p.Arg322Trp)
c.223C>T (p.Arg75Trp)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24205061G>CCA363277506DCDC2c.964C>G (p.Arg322Gly)
c.223C>G (p.Arg75Gly)
gnomAD v4
6g.24205061G=CA1616385280DCDC2c.964C= (p.Arg322=)
c.223C= (p.Arg75=)
6g.24205061G>TCA448963340DCDC2c.964C>A (p.Arg322=)
c.223C>A (p.Arg75=)
6g.24205062T>ACA448963341DCDC2c.963A>T (p.Thr321=)
c.222A>T (p.Thr74=)
6g.24205062T>CCA448963342DCDC2c.963A>G (p.Thr321=)
c.222A>G (p.Thr74=)
6g.24205062T>GCA448963343DCDC2c.963A>C (p.Thr321=)
c.222A>C (p.Thr74=)
6g.24205063G>ACA363277509DCDC2c.962C>T (p.Thr321Ile)
c.221C>T (p.Thr74Ile)
dbSNP gnomAD v2 gnomAD v4
6g.24205063G>CCA363277507DCDC2c.962C>G (p.Thr321Arg)
c.221C>G (p.Thr74Arg)
6g.24205063G=CA1616385281DCDC2c.962C= (p.Thr321=)
c.221C= (p.Thr74=)
6g.24205063G>TCA363277508DCDC2c.962C>A (p.Thr321Lys)
c.221C>A (p.Thr74Lys)
6g.24205064T>ACA363277510DCDC2c.961A>T (p.Thr321Ser)
c.220A>T (p.Thr74Ser)
6g.24205064T>CCA363277511DCDC2c.961A>G (p.Thr321Ala)
c.220A>G (p.Thr74Ala)
gnomAD v4
6g.24205064T>GCA363277512DCDC2c.961A>C (p.Thr321Pro)
c.220A>C (p.Thr74Pro)
6g.24205065T>ACA363277513DCDC2c.960A>T (p.Glu320Asp)
c.219A>T (p.Glu73Asp)
6g.24205065T>CCA448963344DCDC2c.960A>G (p.Glu320=)
c.219A>G (p.Glu73=)
6g.24205065T>GCA363277514DCDC2c.960A>C (p.Glu320Asp)
c.219A>C (p.Glu73Asp)
6g.24205066T>ACA363277515DCDC2c.959A>T (p.Glu320Val)
c.218A>T (p.Glu73Val)
dbSNP
6g.24205066T>CCA363277516DCDC2c.959A>G (p.Glu320Gly)
c.218A>G (p.Glu73Gly)
6g.24205066T>GCA363277517DCDC2c.959A>C (p.Glu320Ala)
c.218A>C (p.Glu73Ala)
6g.24205067C>ACA363277518DCDC2c.958G>T (p.Glu320Ter)
c.217G>T (p.Glu73Ter)
6g.24205067C>GCA363277519DCDC2c.958G>C (p.Glu320Gln)
c.217G>C (p.Glu73Gln)
gnomAD v4
6g.24205067C>TCA363277520DCDC2c.958G>A (p.Glu320Lys)
c.217G>A (p.Glu73Lys)
6g.24205068A=CA1616385282DCDC2c.957T= (p.Ser319=)
c.216T= (p.Ser72=)
6g.24205068A>CCA448963348DCDC2c.957T>G (p.Ser319=)
c.216T>G (p.Ser72=)
gnomAD v4
6g.24205068A>GCA448963347DCDC2c.957T>C (p.Ser319=)
c.216T>C (p.Ser72=)
dbSNP gnomAD v2 gnomAD v4
6g.24205068A>TCA448963346DCDC2c.957T>A (p.Ser319=)
c.216T>A (p.Ser72=)
6g.24205069G>ACA363277521DCDC2c.956C>T (p.Ser319Phe)
c.215C>T (p.Ser72Phe)
6g.24205069G>CCA363277523DCDC2c.956C>G (p.Ser319Cys)
c.215C>G (p.Ser72Cys)
gnomAD v4
6g.24205069G>TCA363277522DCDC2c.956C>A (p.Ser319Tyr)
c.215C>A (p.Ser72Tyr)
6g.24205070A=CA1616385283DCDC2c.955T= (p.Ser319=)
c.214T= (p.Ser72=)
6g.24205070A>CCA363277524DCDC2c.955T>G (p.Ser319Ala)
c.214T>G (p.Ser72Ala)
dbSNP gnomAD v2 gnomAD v4
6g.24205070A>GCA363277525DCDC2c.955T>C (p.Ser319Pro)
c.214T>C (p.Ser72Pro)
COSMIC COSMIC
6g.24205070A>TCA363277526DCDC2c.955T>A (p.Ser319Thr)
c.214T>A (p.Ser72Thr)
6g.24205071C>ACA363277527DCDC2c.954G>T (p.Arg318Ser)
c.213G>T (p.Arg71Ser)
6g.24205071C=CA1616385285DCDC2c.954G= (p.Arg318=)
c.213G= (p.Arg71=)
6g.24205071C>GCA363277528DCDC2c.954G>C (p.Arg318Ser)
c.213G>C (p.Arg71Ser)
gnomAD v4
6g.24205071C>TCA3654553DCDC2c.954G>A (p.Arg318=)
c.213G>A (p.Arg71=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24205071_24205073delinsCCTCA1616385284DCDC2c.952_954delinsAGG (p.Arg318=)
c.211_213delinsAGG (p.Arg71=)
6g.24205072C>ACA363277529DCDC2c.953G>T (p.Arg318Met)
c.212G>T (p.Arg71Met)
6g.24205072C>GCA363277530DCDC2c.953G>C (p.Arg318Thr)
c.212G>C (p.Arg71Thr)
6g.24205072C>TCA363277531DCDC2c.953G>A (p.Arg318Lys)
c.212G>A (p.Arg71Lys)
6g.24205076_24205077delCA823270984DCDC2c.952_953del (p.Arg318ValfsTer2)
c.211_212del (p.Arg71ValfsTer2)
dbSNP
6g.24205073T>ACA363277532DCDC2c.952A>T (p.Arg318Trp)
c.211A>T (p.Arg71Trp)
6g.24205073T>CCA363277533DCDC2c.952A>G (p.Arg318Gly)
c.211A>G (p.Arg71Gly)
6g.24205073T>GCA448963352DCDC2c.952A>C (p.Arg318=)
c.211A>C (p.Arg71=)
6g.24205074C>ACA363277535DCDC2c.951G>T (p.Glu317Asp)
c.210G>T (p.Glu70Asp)
6g.24205074C=CA1616385286DCDC2c.951G= (p.Glu317=)
c.210G= (p.Glu70=)
6g.24205074C>GCA363277534DCDC2c.951G>C (p.Glu317Asp)
c.210G>C (p.Glu70Asp)
6g.24205074C>TCA448963353DCDC2c.951G>A (p.Glu317=)
c.210G>A (p.Glu70=)
dbSNP gnomAD v2 gnomAD v4
6g.24205075T>ACA363277536DCDC2c.950A>T (p.Glu317Val)
c.209A>T (p.Glu70Val)
6g.24205075T>CCA363277537DCDC2c.950A>G (p.Glu317Gly)
c.209A>G (p.Glu70Gly)
6g.24205075T>GCA363277538DCDC2c.950A>C (p.Glu317Ala)
c.209A>C (p.Glu70Ala)
6g.24205076C>ACA363277539DCDC2c.949G>T (p.Glu317Ter)
c.208G>T (p.Glu70Ter)
6g.24205076C=CA1616385287DCDC2c.949G= (p.Glu317=)
c.208G= (p.Glu70=)
6g.24205076C>GCA363277540DCDC2c.949G>C (p.Glu317Gln)
c.208G>C (p.Glu70Gln)
6g.24205076C>TCA363277541DCDC2c.949G>A (p.Glu317Lys)
c.208G>A (p.Glu70Lys)
dbSNP gnomAD v4
6g.24205077T>ACA448963357DCDC2c.948A>T (p.Ala316=)
c.207A>T (p.Ala69=)
COSMIC COSMIC
6g.24205077T>CCA448963358DCDC2c.948A>G (p.Ala316=)
c.207A>G (p.Ala69=)
6g.24205077T>GCA448963359DCDC2c.948A>C (p.Ala316=)
c.207A>C (p.Ala69=)
6g.24205078G>ACA363277542DCDC2c.947C>T (p.Ala316Val)
c.206C>T (p.Ala69Val)
6g.24205078G>CCA363277543DCDC2c.947C>G (p.Ala316Gly)
c.206C>G (p.Ala69Gly)
6g.24205078G>TCA363277544DCDC2c.947C>A (p.Ala316Glu)
c.206C>A (p.Ala69Glu)
6g.24205079C>ACA363277545DCDC2c.946G>T (p.Ala316Ser)
c.205G>T (p.Ala69Ser)
6g.24205079C>GCA363277546DCDC2c.946G>C (p.Ala316Pro)
c.205G>C (p.Ala69Pro)
6g.24205079C>TCA363277547DCDC2c.946G>A (p.Ala316Thr)
c.205G>A (p.Ala69Thr)
6g.24205080T>ACA448963360DCDC2c.945A>T (p.Gly315=)
c.204A>T (p.Gly68=)
6g.24205080T>CCA448963361DCDC2c.945A>G (p.Gly315=)
c.204A>G (p.Gly68=)
6g.24205080T>GCA448963362DCDC2c.945A>C (p.Gly315=)
c.204A>C (p.Gly68=)
6g.24205081C>ACA363277549DCDC2c.944G>T (p.Gly315Val)
c.203G>T (p.Gly68Val)
6g.24205081C=CA1616385288DCDC2c.944G= (p.Gly315=)
c.203G= (p.Gly68=)
6g.24205081C>GCA363277550DCDC2c.944G>C (p.Gly315Ala)
c.203G>C (p.Gly68Ala)
6g.24205081C>TCA363277548DCDC2c.944G>A (p.Gly315Glu)
c.203G>A (p.Gly68Glu)
dbSNP gnomAD v2 gnomAD v4
6g.24205082C>ACA3654554DCDC2c.943G>T (p.Gly315Ter)
c.202G>T (p.Gly68Ter)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24205082C=CA1616385289DCDC2c.943G= (p.Gly315=)
c.202G= (p.Gly68=)
6g.24205082C>GCA363277551DCDC2c.943G>C (p.Gly315Arg)
c.202G>C (p.Gly68Arg)
6g.24205082C>TCA363277552DCDC2c.943G>A (p.Gly315Arg)
c.202G>A (p.Gly68Arg)
6g.24205082_24205083delinsCACA1616385290DCDC2c.942_943delinsTG (p.Ala314=)
c.201_202delinsTG (p.Ala67=)
6g.24205083delCA658796725DCDC2c.942del (p.Gly315GlufsTer?)
c.201del (p.Gly68GlufsTer?)
ClinVar dbSNP gnomAD v3 gnomAD v4
6g.24205083A>CCA448963366DCDC2c.942T>G (p.Ala314=)
c.201T>G (p.Ala67=)
6g.24205083A>GCA448963367DCDC2c.942T>C (p.Ala314=)
c.201T>C (p.Ala67=)
6g.24205083A>TCA448963368DCDC2c.942T>A (p.Ala314=)
c.201T>A (p.Ala67=)
6g.24205084G>ACA363277553DCDC2c.941C>T (p.Ala314Val)
c.200C>T (p.Ala67Val)
6g.24205084G>CCA363277554DCDC2c.941C>G (p.Ala314Gly)
c.200C>G (p.Ala67Gly)
6g.24205084G>TCA363277555DCDC2c.941C>A (p.Ala314Asp)
c.200C>A (p.Ala67Asp)
6g.24205085C>ACA363277556DCDC2c.940G>T (p.Ala314Ser)
c.199G>T (p.Ala67Ser)
6g.24205085C>GCA363277558DCDC2c.940G>C (p.Ala314Pro)
c.199G>C (p.Ala67Pro)
6g.24205085C>TCA363277557DCDC2c.940G>A (p.Ala314Thr)
c.199G>A (p.Ala67Thr)
6g.24205086T>ACA363277559DCDC2c.939A>T (p.Lys313Asn)
c.198A>T (p.Lys66Asn)
6g.24205086T>CCA448963370DCDC2c.939A>G (p.Lys313=)
c.198A>G (p.Lys66=)
6g.24205086T>GCA363277560DCDC2c.939A>C (p.Lys313Asn)
c.198A>C (p.Lys66Asn)
6g.24205087T>ACA363277561DCDC2c.938A>T (p.Lys313Ile)
c.197A>T (p.Lys66Ile)
6g.24205087T>CCA363277562DCDC2c.938A>G (p.Lys313Arg)
c.197A>G (p.Lys66Arg)
gnomAD v4
6g.24205087T>GCA363277563DCDC2c.938A>C (p.Lys313Thr)
c.197A>C (p.Lys66Thr)
COSMIC COSMIC
6g.24205088T>ACA363277565DCDC2c.937A>T (p.Lys313Ter)
c.196A>T (p.Lys66Ter)
6g.24205088T>CCA3654555DCDC2c.937A>G (p.Lys313Glu)
c.196A>G (p.Lys66Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24205088T>GCA363277564DCDC2c.937A>C (p.Lys313Gln)
c.196A>C (p.Lys66Gln)
6g.24205088T=CA1616385291DCDC2c.937A= (p.Lys313=)
c.196A= (p.Lys66=)
6g.24205089G>ACA448963373DCDC2c.936C>T (p.Phe312=)
c.195C>T (p.Phe65=)
dbSNP gnomAD v3 gnomAD v4
6g.24205089G>CCA363277566DCDC2c.936C>G (p.Phe312Leu)
c.195C>G (p.Phe65Leu)
6g.24205089G=CA1616385292DCDC2c.936C= (p.Phe312=)
c.195C= (p.Phe65=)
6g.24205089G>TCA363277567DCDC2c.936C>A (p.Phe312Leu)
c.195C>A (p.Phe65Leu)
6g.24205090A>CCA363277568DCDC2c.935T>G (p.Phe312Cys)
c.194T>G (p.Phe65Cys)
6g.24205090A>GCA363277569DCDC2c.935T>C (p.Phe312Ser)
c.194T>C (p.Phe65Ser)
6g.24205090A>TCA363277570DCDC2c.935T>A (p.Phe312Tyr)
c.194T>A (p.Phe65Tyr)
6g.24205091A>CCA363277571DCDC2c.934T>G (p.Phe312Val)
c.193T>G (p.Phe65Val)
6g.24205091A>GCA363277572DCDC2c.934T>C (p.Phe312Leu)
c.193T>C (p.Phe65Leu)
6g.24205091A>TCA363277573DCDC2c.934T>A (p.Phe312Ile)
c.193T>A (p.Phe65Ile)
6g.24205092A>CCA363277574DCDC2c.933T>G (p.Ile311Met)
c.192T>G (p.Ile64Met)
6g.24205092A>GCA448963377DCDC2c.933T>C (p.Ile311=)
c.192T>C (p.Ile64=)
6g.24205092A>TCA448963378DCDC2c.933T>A (p.Ile311=)
c.192T>A (p.Ile64=)
6g.24205093A>CCA363277575DCDC2c.932T>G (p.Ile311Ser)
c.191T>G (p.Ile64Ser)
6g.24205093A>GCA363277576DCDC2c.932T>C (p.Ile311Thr)
c.191T>C (p.Ile64Thr)
6g.24205093A>TCA363277577DCDC2c.932T>A (p.Ile311Asn)
c.191T>A (p.Ile64Asn)
6g.24205094T>ACA363277578DCDC2c.931A>T (p.Ile311Phe)
c.190A>T (p.Ile64Phe)
6g.24205094T>CCA3654556DCDC2c.931A>G (p.Ile311Val)
c.190A>G (p.Ile64Val)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24205094T>GCA363277579DCDC2c.931A>C (p.Ile311Leu)
c.190A>C (p.Ile64Leu)
6g.24205094T=CA1616385293DCDC2c.931A= (p.Ile311=)
c.190A= (p.Ile64=)
6g.24205095G>ACA448963379DCDC2c.930C>T (p.Gly310=)
c.189C>T (p.Gly63=)
6g.24205095G>CCA448963382DCDC2c.930C>G (p.Gly310=)
c.189C>G (p.Gly63=)
6g.24205095G>TCA448963380DCDC2c.930C>A (p.Gly310=)
c.189C>A (p.Gly63=)
6g.24205096C>ACA363277581DCDC2c.929G>T (p.Gly310Val)
c.188G>T (p.Gly63Val)
6g.24205096C=CA1616385294DCDC2c.929G= (p.Gly310=)
c.188G= (p.Gly63=)
6g.24205096C>GCA3654557DCDC2c.929G>C (p.Gly310Ala)
c.188G>C (p.Gly63Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24205096C>TCA363277580DCDC2c.929G>A (p.Gly310Asp)
c.188G>A (p.Gly63Asp)
6g.24205097C>ACA363277582DCDC2c.928G>T (p.Gly310Cys)
c.187G>T (p.Gly63Cys)
6g.24205097C=CA1616385295DCDC2c.928G= (p.Gly310=)
c.187G= (p.Gly63=)
6g.24205097C>GCA363277583DCDC2c.928G>C (p.Gly310Arg)
c.187G>C (p.Gly63Arg)
6g.24205097C>TCA363277584DCDC2c.928G>A (p.Gly310Ser)
c.187G>A (p.Gly63Ser)
dbSNP gnomAD v3 gnomAD v4
6g.24205098T>ACA363277585DCDC2c.927A>T (p.Glu309Asp)
c.186A>T (p.Glu62Asp)
6g.24205098T>CCA448963383DCDC2c.927A>G (p.Glu309=)
c.186A>G (p.Glu62=)
6g.24205098T>GCA363277586DCDC2c.927A>C (p.Glu309Asp)
c.186A>C (p.Glu62Asp)
6g.24205099T>ACA363277587DCDC2c.926A>T (p.Glu309Val)
c.185A>T (p.Glu62Val)
6g.24205099T>CCA363277588DCDC2c.926A>G (p.Glu309Gly)
c.185A>G (p.Glu62Gly)
6g.24205099T>GCA363277589DCDC2c.926A>C (p.Glu309Ala)
c.185A>C (p.Glu62Ala)
6g.24205100C>ACA363277590DCDC2c.925G>T (p.Glu309Ter)
c.184G>T (p.Glu62Ter)
6g.24205100C>GCA363277591DCDC2c.925G>C (p.Glu309Gln)
c.184G>C (p.Glu62Gln)
6g.24205100C>TCA363277592DCDC2c.925G>A (p.Glu309Lys)
c.184G>A (p.Glu62Lys)
gnomAD v4
6g.24205101A=CA1616385296DCDC2c.924T= (p.Asp308=)
c.183T= (p.Asp61=)
6g.24205101A>CCA3654558DCDC2c.924T>G (p.Asp308Glu)
c.183T>G (p.Asp61Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24205101A>GCA448963385DCDC2c.924T>C (p.Asp308=)
c.183T>C (p.Asp61=)
ClinVar dbSNP gnomAD v3 gnomAD v4
6g.24205101A>TCA363277593DCDC2c.924T>A (p.Asp308Glu)
c.183T>A (p.Asp61Glu)
6g.24205102T>ACA363277595DCDC2c.923A>T (p.Asp308Val)
c.182A>T (p.Asp61Val)
6g.24205102T>CCA363277596DCDC2c.923A>G (p.Asp308Gly)
c.182A>G (p.Asp61Gly)
6g.24205102T>GCA363277594DCDC2c.923A>C (p.Asp308Ala)
c.182A>C (p.Asp61Ala)
6g.24205103C>ACA363277597DCDC2c.923-1G>T (n.923-1G>T)
c.181G>T (p.Asp61Tyr)
6g.24205103C>GCA363277598DCDC2c.923-1G>C (n.923-1G>C)
c.181G>C (p.Asp61His)
gnomAD v4
6g.24205103C>TCA363277599DCDC2c.923-1G>A (n.923-1G>A)
c.181G>A (p.Asp61Asn)
6g.24205104T>ACA363277600DCDC2c.923-2A>T (n.923-2A>T)
c.180A>T (p.Ile60=)
gnomAD v4
6g.24205104T>CCA363277601DCDC2c.923-2A>G (n.923-2A>G)
c.180A>G (p.Ile60Met)
6g.24205104T>GCA363277602DCDC2c.923-2A>C (n.923-2A>C)
c.180A>C (p.Ile60=)
6g.24205105A>CCA363277603DCDC2c.923-3T>G (n.923-3T>G)
c.179T>G (p.Ile60Arg)
6g.24205105A>GCA363277604DCDC2c.923-3T>C (n.923-3T>C)
c.179T>C (p.Ile60Thr)
gnomAD v4
6g.24205105A>TCA363277605DCDC2c.923-3T>A (n.923-3T>A)
c.179T>A (p.Ile60Lys)
6g.24205106T>ACA363277606DCDC2c.923-4A>T (n.923-4A>T)
c.178A>T (p.Ile60Leu)
6g.24205106T>CCA363277607DCDC2c.923-4A>G (n.923-4A>G)
c.178A>G (p.Ile60Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24205106T>GCA136625688DCDC2c.923-4A>C (n.923-4A>C)
c.178A>C (p.Ile60Leu)
dbSNP
6g.24205106T=CA1616385297DCDC2c.923-4A= (n.923-4A=)
c.178A= (p.Ile60=)
6g.24205107T>CCA2578541620DCDC2c.923-5A>G (n.923-5A>G)
c.177A>G (p.Ser59=)
gnomAD v4
6g.24205108G>ACA363277610DCDC2c.923-6C>T (n.923-6C>T)
c.176C>T (p.Ser59Leu)
6g.24205108G>CCA363277608DCDC2c.923-6C>G (n.923-6C>G)
c.176C>G (p.Ser59Ter)
6g.24205108G>TCA363277609DCDC2c.923-6C>A (n.923-6C>A)
c.176C>A (p.Ser59Ter)
6g.24205109A>CCA363277611DCDC2c.923-7T>G (n.923-7T>G)
c.175T>G (p.Ser59Ala)
6g.24205109A>GCA363277612DCDC2c.923-7T>C (n.923-7T>C)
c.175T>C (p.Ser59Pro)
6g.24205109A>TCA363277613DCDC2c.923-7T>A (n.923-7T>A)
c.175T>A (p.Ser59Thr)
6g.24205109dupCA2677514572DCDC2c.923-7dup (n.923-7dup)
c.175dup (p.Ser59PhefsTer4)
gnomAD v4
6g.24205110G>ACA3654559DCDC2c.923-8C>T (n.923-8C>T)
c.174C>T (p.Val58=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24205110G>CCA3654560DCDC2c.923-8C>G (n.923-8C>G)
c.174C>G (p.Val58=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.24205110G=CA1616385299DCDC2c.923-8C= (n.923-8C=)
c.174C= (p.Val58=)
6g.24205110G>TCA566291255DCDC2c.923-8C>A (n.923-8C>A)
c.174C>A (p.Val58=)
dbSNP gnomAD v2 gnomAD v4
6g.24205110_24205114delinsGACAACA1616385298DCDC2c.923-12_923-8delinsTTGTC (n.923-12_923-8delinsTTGTC)
c.170_174delinsTTGTC (p.Phe57=)
6g.24205111A=CA1616385300DCDC2c.923-9T= (n.923-9T=)
c.173T= (p.Val58=)
6g.24205111A>CCA363277614DCDC2c.923-9T>G (n.923-9T>G)
c.173T>G (p.Val58Gly)
6g.24205111A>GCA3654562DCDC2c.923-9T>C (n.923-9T>C)
c.173T>C (p.Val58Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24205111A>TCA363277615DCDC2c.923-9T>A (n.923-9T>A)
c.173T>A (p.Val58Asp)
gnomAD v4
6g.24205114_24205117delCA3654561DCDC2c.923-12_923-9del (n.923-12_923-9del)
c.170_173del (p.Phe57SerfsTer3)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24205112C>ACA3654563DCDC2c.923-10G>T (n.923-10G>T)
c.172G>T (p.Val58Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.24205112C=CA1616385301DCDC2c.923-10G= (n.923-10G=)
c.172G= (p.Val58=)
6g.24205112C>GCA363277616DCDC2c.923-10G>C (n.923-10G>C)
c.172G>C (p.Val58Leu)
6g.24205112C>TCA363277617DCDC2c.923-10G>A (n.923-10G>A)
c.172G>A (p.Val58Ile)
dbSNP gnomAD v3 gnomAD v4
6g.24205113A>CCA363277619DCDC2c.923-11T>G (n.923-11T>G)
c.171T>G (p.Phe57Leu)
6g.24205113A>TCA363277618DCDC2c.923-11T>A (n.923-11T>A)
c.171T>A (p.Phe57Leu)
6g.24205115delCA2677514573DCDC2c.923-11del (n.923-11del)
c.171del (p.Phe57LeufsTer4)
gnomAD v4
6g.24205114A=CA1616385302DCDC2c.923-12T= (n.923-12T=)
c.170T= (p.Phe57=)
6g.24205114A>CCA3654564DCDC2c.923-12T>G (n.923-12T>G)
c.170T>G (p.Phe57Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24205114A>GCA363277621DCDC2c.923-12T>C (n.923-12T>C)
c.170T>C (p.Phe57Ser)
6g.24205114A>TCA363277620DCDC2c.923-12T>A (n.923-12T>A)
c.170T>A (p.Phe57Tyr)
6g.24205115A=CA1616385303DCDC2c.923-13T= (n.923-13T=)
c.169T= (p.Phe57=)
6g.24205115A>CCA363277622DCDC2c.923-13T>G (n.923-13T>G)
c.169T>G (p.Phe57Val)
6g.24205115A>GCA3654565DCDC2c.923-13T>C (n.923-13T>C)
c.169T>C (p.Phe57Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24205115A>TCA363277623DCDC2c.923-13T>A (n.923-13T>A)
c.169T>A (p.Phe57Ile)
6g.24205117A>CCA363277624DCDC2c.923-15T>G (n.923-15T>G)
c.167T>G (p.Val56Gly)
6g.24205117A>GCA363277625DCDC2c.923-15T>C (n.923-15T>C)
c.167T>C (p.Val56Ala)
gnomAD v4
6g.24205117A>TCA363277626DCDC2c.923-15T>A (n.923-15T>A)
c.167T>A (p.Val56Glu)
6g.24205118C>ACA363277627DCDC2c.923-16G>T (n.923-16G>T)
c.166G>T (p.Val56Leu)
6g.24205118C=CA1616385304DCDC2c.923-16G= (n.923-16G=)
c.166G= (p.Val56=)
6g.24205118C>GCA363277628DCDC2c.923-16G>C (n.923-16G>C)
c.166G>C (p.Val56Leu)
6g.24205118C>TCA363277629DCDC2c.923-16G>A (n.923-16G>A)
c.166G>A (p.Val56Met)
dbSNP gnomAD v2
6g.24205119A=CA1616385305DCDC2c.923-17T= (n.923-17T=)
c.165T= (p.Cys55=)
6g.24205119A>CCA363277630DCDC2c.923-17T>G (n.923-17T>G)
c.165T>G (p.Cys55Trp)
6g.24205119A>GCA3654566DCDC2c.923-17T>C (n.923-17T>C)
c.165T>C (p.Cys55=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24205119A>TCA363277631DCDC2c.923-17T>A (n.923-17T>A)
c.165T>A (p.Cys55Ter)
6g.24205120C>ACA363277633DCDC2c.923-18G>T (n.923-18G>T)
c.164G>T (p.Cys55Phe)
6g.24205120C=CA1616385306DCDC2c.923-18G= (n.923-18G=)
c.164G= (p.Cys55=)
6g.24205120C>GCA363277632DCDC2c.923-18G>C (n.923-18G>C)
c.164G>C (p.Cys55Ser)
6g.24205120C>TCA3654567DCDC2c.923-18G>A (n.923-18G>A)
c.164G>A (p.Cys55Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24205121A=CA1616385307DCDC2c.923-19T= (n.923-19T=)
c.163T= (p.Cys55=)
6g.24205121A>CCA363277634DCDC2c.923-19T>G (n.923-19T>G)
c.163T>G (p.Cys55Gly)
6g.24205121A>GCA363277635DCDC2c.923-19T>C (n.923-19T>C)
c.163T>C (p.Cys55Arg)
dbSNP gnomAD v3 gnomAD v4
6g.24205121A>TCA363277636DCDC2c.923-19T>A (n.923-19T>A)
c.163T>A (p.Cys55Ser)
6g.24205122G>ACA2677514574DCDC2c.923-20C>T (n.923-20C>T)
c.162C>T (p.His54=)
gnomAD v4
6g.24205122G>CCA363277637DCDC2c.923-20C>G (n.923-20C>G)
c.162C>G (p.His54Gln)
6g.24205122G>TCA363277638DCDC2c.923-20C>A (n.923-20C>A)
c.162C>A (p.His54Gln)

Number of alleles fetched