Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.21393630G>ACA484995070CHD8c.5328C>T (p.Ser1776=)
c.3865C>T
c.6165C>T (p.Ser2055=)
n.5321C>T
14g.21393630G>CCA484995072CHD8c.5328C>G (p.Ser1776=)
c.3865C>G
c.6165C>G (p.Ser2055=)
n.5321C>G
14g.21393630G>TCA484995071CHD8c.5328C>A (p.Ser1776=)
c.3865C>A
c.6165C>A (p.Ser2055=)
n.5321C>A
14g.21393631G>ACA388880278CHD8c.5327C>T (p.Ser1776Phe)
c.3864C>T
c.6164C>T (p.Ser2055Phe)
n.5320C>T
 gnomAD v4
14g.21393631G>CCA388880279CHD8c.5327C>G (p.Ser1776Cys)
c.3864C>G
c.6164C>G (p.Ser2055Cys)
n.5320C>G
14g.21393631G>TCA388880280CHD8c.5327C>A (p.Ser1776Tyr)
c.3864C>A
c.6164C>A (p.Ser2055Tyr)
n.5320C>A
14g.21393632A>CCA388880281CHD8c.5326T>G (p.Ser1776Ala)
c.3863T>G
c.6163T>G (p.Ser2055Ala)
n.5319T>G
14g.21393632A>GCA388880283CHD8c.5326T>C (p.Ser1776Pro)
c.3863T>C
c.6163T>C (p.Ser2055Pro)
n.5319T>C
14g.21393632A>TCA388880282CHD8c.5326T>A (p.Ser1776Thr)
c.3863T>A
c.6163T>A (p.Ser2055Thr)
n.5319T>A
14g.21393633A>CCA484995075CHD8c.5325T>G (p.Val1775=)
c.3862T>G
c.6162T>G (p.Val2054=)
n.5318T>G
14g.21393633A>GCA484995073CHD8c.5325T>C (p.Val1775=)
c.3862T>C
c.6162T>C (p.Val2054=)
n.5318T>C
14g.21393633A>TCA484995074CHD8c.5325T>A (p.Val1775=)
c.3862T>A
c.6162T>A (p.Val2054=)
n.5318T>A
14g.21393634A>CCA388880284CHD8c.5324T>G (p.Val1775Gly)
c.3861T>G
c.6161T>G (p.Val2054Gly)
n.5317T>G
14g.21393634A>GCA388880285CHD8c.5324T>C (p.Val1775Ala)
c.3861T>C
c.6161T>C (p.Val2054Ala)
n.5317T>C
14g.21393634A>TCA388880286CHD8c.5324T>A (p.Val1775Asp)
c.3861T>A
c.6161T>A (p.Val2054Asp)
n.5317T>A
14g.21393635C>ACA388880287CHD8c.5323G>T (p.Val1775Phe)
c.3860G>T
c.6160G>T (p.Val2054Phe)
n.5316G>T
 dbSNP
14g.21393635C=CA2122506107CHD8c.5323G= (p.Val1775=)
c.3860G=
c.6160G= (p.Val2054=)
n.5316G=
14g.21393635C>GCA388880288CHD8c.5323G>C (p.Val1775Leu)
c.3860G>C
c.6160G>C (p.Val2054Leu)
n.5316G>C
14g.21393635C>TCA388880289CHD8c.5323G>A (p.Val1775Ile)
c.3860G>A
c.6160G>A (p.Val2054Ile)
n.5316G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.21393636C>ACA484995076CHD8c.5322G>T (p.Leu1774=)
c.3859G>T
c.6159G>T (p.Leu2053=)
n.5315G>T
14g.21393636C=CA2122506109CHD8c.5322G= (p.Leu1774=)
c.3859G=
c.6159G= (p.Leu2053=)
n.5315G=
14g.21393636C>GCA484995077CHD8c.5322G>C (p.Leu1774=)
c.3859G>C
c.6159G>C (p.Leu2053=)
n.5315G>C
14g.21393636C>TCA484995078CHD8c.5322G>A (p.Leu1774=)
c.3859G>A
c.6159G>A (p.Leu2053=)
n.5315G>A
 dbSNP gnomAD v2 gnomAD v4
14g.21393637A>CCA388880290CHD8c.5321T>G (p.Leu1774Arg)
c.3858T>G
c.6158T>G (p.Leu2053Arg)
n.5314T>G
14g.21393637A>GCA388880291CHD8c.5321T>C (p.Leu1774Pro)
c.3858T>C
c.6158T>C (p.Leu2053Pro)
n.5314T>C
14g.21393637A>TCA388880292CHD8c.5321T>A (p.Leu1774Gln)
c.3858T>A
c.6158T>A (p.Leu2053Gln)
n.5314T>A
14g.21393637dupCA2575477107CHD8c.5321dup (p.Val1775GlyfsTer13)
c.3858dup
c.6158dup (p.Val2054GlyfsTer13)
n.5314dup
14g.21393638G>ACA484995080CHD8c.5320C>T (p.Leu1774=)
c.3857C>T
c.6157C>T (p.Leu2053=)
n.5313C>T
14g.21393638G>CCA257593060CHD8c.5320C>G (p.Leu1774Val)
c.3857C>G
c.6157C>G (p.Leu2053Val)
n.5313C>G
 dbSNP
14g.21393638G=CA2122506111CHD8c.5320C= (p.Leu1774=)
c.3857C=
c.6157C= (p.Leu2053=)
n.5313C=
14g.21393638G>TCA388880293CHD8c.5320C>A (p.Leu1774Met)
c.3857C>A
c.6157C>A (p.Leu2053Met)
n.5313C>A
14g.21393639A>CCA484995081CHD8c.5319T>G (p.Pro1773=)
c.3856T>G
c.6156T>G (p.Pro2052=)
n.5312T>G
14g.21393639A>GCA484995082CHD8c.5319T>C (p.Pro1773=)
c.3856T>C
c.6156T>C (p.Pro2052=)
n.5312T>C
14g.21393639A>TCA484995083CHD8c.5319T>A (p.Pro1773=)
c.3856T>A
c.6156T>A (p.Pro2052=)
n.5312T>A
14g.21393640G>ACA388880296CHD8c.5318C>T (p.Pro1773Leu)
c.3855C>T
c.6155C>T (p.Pro2052Leu)
n.5311C>T
14g.21393640G>CCA388880295CHD8c.5318C>G (p.Pro1773Arg)
c.3855C>G
c.6155C>G (p.Pro2052Arg)
n.5311C>G
 gnomAD v4
14g.21393640G>TCA388880294CHD8c.5318C>A (p.Pro1773His)
c.3855C>A
c.6155C>A (p.Pro2052His)
n.5311C>A
14g.21393641G>ACA388880297CHD8c.5317C>T (p.Pro1773Ser)
c.3854C>T
c.6154C>T (p.Pro2052Ser)
n.5310C>T
14g.21393641G>CCA388880298CHD8c.5317C>G (p.Pro1773Ala)
c.3854C>G
c.6154C>G (p.Pro2052Ala)
n.5310C>G
14g.21393641G>TCA388880299CHD8c.5317C>A (p.Pro1773Thr)
c.3854C>A
c.6154C>A (p.Pro2052Thr)
n.5310C>A
14g.21393642G>ACA484995084CHD8c.5316C>T (p.Thr1772=)
c.3853C>T
c.6153C>T (p.Thr2051=)
n.5309C>T
14g.21393642G>CCA484995085CHD8c.5316C>G (p.Thr1772=)
c.3853C>G
c.6153C>G (p.Thr2051=)
n.5309C>G
14g.21393642G>TCA484995086CHD8c.5316C>A (p.Thr1772=)
c.3853C>A
c.6153C>A (p.Thr2051=)
n.5309C>A
14g.21393643G>ACA388880300CHD8c.5315C>T (p.Thr1772Ile)
c.3852C>T
c.6152C>T (p.Thr2051Ile)
n.5308C>T
14g.21393643G>CCA7090831CHD8c.5315C>G (p.Thr1772Ser)
c.3852C>G
c.6152C>G (p.Thr2051Ser)
n.5308C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393643G=CA2122506114CHD8c.5315C= (p.Thr1772=)
c.3852C=
c.6152C= (p.Thr2051=)
n.5308C=
14g.21393643G>TCA388880301CHD8c.5315C>A (p.Thr1772Asn)
c.3852C>A
c.6152C>A (p.Thr2051Asn)
n.5308C>A
 dbSNP gnomAD v2 gnomAD v4
14g.21393644T>ACA388880302CHD8c.5314A>T (p.Thr1772Ser)
c.3851A>T
c.6151A>T (p.Thr2051Ser)
n.5307A>T
14g.21393644T>CCA388880303CHD8c.5314A>G (p.Thr1772Ala)
c.3851A>G
c.6151A>G (p.Thr2051Ala)
n.5307A>G
14g.21393644T>GCA388880304CHD8c.5314A>C (p.Thr1772Pro)
c.3851A>C
c.6151A>C (p.Thr2051Pro)
n.5307A>C
14g.21393645A>CCA484995091CHD8c.5313T>G (p.Thr1771=)
c.3850T>G
c.6150T>G (p.Thr2050=)
n.5306T>G
14g.21393645A>GCA484995089CHD8c.5313T>C (p.Thr1771=)
c.3850T>C
c.6150T>C (p.Thr2050=)
n.5306T>C
14g.21393645A>TCA484995090CHD8c.5313T>A (p.Thr1771=)
c.3850T>A
c.6150T>A (p.Thr2050=)
n.5306T>A
14g.21393646G>ACA388880305CHD8c.5312C>T (p.Thr1771Ile)
c.3849C>T
c.6149C>T (p.Thr2050Ile)
n.5305C>T
14g.21393646G>CCA388880306CHD8c.5312C>G (p.Thr1771Ser)
c.3849C>G
c.6149C>G (p.Thr2050Ser)
n.5305C>G
 ClinVar dbSNP gnomAD v4
14g.21393646G>TCA388880307CHD8c.5312C>A (p.Thr1771Asn)
c.3849C>A
c.6149C>A (p.Thr2050Asn)
n.5305C>A
14g.21393647T>ACA388880310CHD8c.5311A>T (p.Thr1771Ser)
c.3848A>T
c.6148A>T (p.Thr2050Ser)
n.5304A>T
14g.21393647T>CCA388880309CHD8c.5311A>G (p.Thr1771Ala)
c.3848A>G
c.6148A>G (p.Thr2050Ala)
n.5304A>G
 dbSNP
14g.21393647T>GCA388880308CHD8c.5311A>C (p.Thr1771Pro)
c.3848A>C
c.6148A>C (p.Thr2050Pro)
n.5304A>C
 gnomAD v4
14g.21393647T=CA2122506116CHD8c.5311A= (p.Thr1771=)
c.3848A=
c.6148A= (p.Thr2050=)
n.5304A=
14g.21393647dupCA658770506CHD8c.5311dup (p.Thr1771AsnfsTer17)
c.3848dup
c.6148dup (p.Thr2050AsnfsTer17)
n.5304dup
14g.21393648A>CCA388880311CHD8c.5310T>G (p.Asp1770Glu)
c.3847T>G
c.6147T>G (p.Asp2049Glu)
n.5303T>G
14g.21393648A>GCA484995093CHD8c.5310T>C (p.Asp1770=)
c.3847T>C
c.6147T>C (p.Asp2049=)
n.5303T>C
14g.21393648A>TCA388880312CHD8c.5310T>A (p.Asp1770Glu)
c.3847T>A
c.6147T>A (p.Asp2049Glu)
n.5303T>A
14g.21393649T>ACA388880313CHD8c.5309A>T (p.Asp1770Val)
c.3846A>T
c.6146A>T (p.Asp2049Val)
n.5302A>T
14g.21393649T>CCA388880314CHD8c.5309A>G (p.Asp1770Gly)
c.3846A>G
c.6146A>G (p.Asp2049Gly)
n.5302A>G
 gnomAD v4
14g.21393649T>GCA388880315CHD8c.5309A>C (p.Asp1770Ala)
c.3846A>C
c.6146A>C (p.Asp2049Ala)
n.5302A>C
14g.21393650C>ACA388880316CHD8c.5308G>T (p.Asp1770Tyr)
c.3845G>T
c.6145G>T (p.Asp2049Tyr)
n.5301G>T
14g.21393650C>GCA388880317CHD8c.5308G>C (p.Asp1770His)
c.3845G>C
c.6145G>C (p.Asp2049His)
n.5301G>C
14g.21393650C>TCA388880318CHD8c.5308G>A (p.Asp1770Asn)
c.3845G>A
c.6145G>A (p.Asp2049Asn)
n.5301G>A
 gnomAD v4
14g.21393651A>CCA484995095CHD8c.5307T>G (p.Ser1769=)
c.3844T>G
c.6144T>G (p.Ser2048=)
n.5300T>G
14g.21393651A>GCA484995096CHD8c.5307T>C (p.Ser1769=)
c.3844T>C
c.6144T>C (p.Ser2048=)
n.5300T>C
14g.21393651A>TCA484995097CHD8c.5307T>A (p.Ser1769=)
c.3844T>A
c.6144T>A (p.Ser2048=)
n.5300T>A
14g.21393652G>ACA388880319CHD8c.5306C>T (p.Ser1769Phe)
c.3843C>T
c.6143C>T (p.Ser2048Phe)
n.5299C>T
14g.21393652G>CCA257593063CHD8c.5306C>G (p.Ser1769Cys)
c.3843C>G
c.6143C>G (p.Ser2048Cys)
n.5299C>G
 dbSNP gnomAD v2 gnomAD v4
14g.21393652G=CA2122506117CHD8c.5306C= (p.Ser1769=)
c.3843C=
c.6143C= (p.Ser2048=)
n.5299C=
14g.21393652G>TCA388880320CHD8c.5306C>A (p.Ser1769Tyr)
c.3843C>A
c.6143C>A (p.Ser2048Tyr)
n.5299C>A
14g.21393653A>CCA388880321CHD8c.5305T>G (p.Ser1769Ala)
c.3842T>G
c.6142T>G (p.Ser2048Ala)
n.5298T>G
14g.21393653A>GCA388880322CHD8c.5305T>C (p.Ser1769Pro)
c.3842T>C
c.6142T>C (p.Ser2048Pro)
n.5298T>C
14g.21393653A>TCA388880323CHD8c.5305T>A (p.Ser1769Thr)
c.3842T>A
c.6142T>A (p.Ser2048Thr)
n.5298T>A
14g.21393654G>ACA7090832CHD8c.5304C>T (p.Pro1768=)
c.3841C>T
c.6141C>T (p.Pro2047=)
n.5297C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21393654G>CCA257593074CHD8c.5304C>G (p.Pro1768=)
c.3841C>G
c.6141C>G (p.Pro2047=)
n.5297C>G
 dbSNP gnomAD v3 gnomAD v4
14g.21393654G=CA2122506120CHD8c.5304C= (p.Pro1768=)
c.3841C=
c.6141C= (p.Pro2047=)
n.5297C=
14g.21393654G>TCA484995099CHD8c.5304C>A (p.Pro1768=)
c.3841C>A
c.6141C>A (p.Pro2047=)
n.5297C>A
14g.21393658delCA645571678CHD8c.5304del (p.Ser1769LeufsTer28)
c.3841del
c.6141del (p.Ser2048LeufsTer28)
n.5297del
 COSMIC COSMIC
14g.21393655G>ACA388880324CHD8c.5303C>T (p.Pro1768Leu)
c.3840C>T
c.6140C>T (p.Pro2047Leu)
n.5296C>T
 dbSNP gnomAD v2 gnomAD v4
14g.21393655G>CCA388880326CHD8c.5303C>G (p.Pro1768Arg)
c.3840C>G
c.6140C>G (p.Pro2047Arg)
n.5296C>G
 gnomAD v4
14g.21393655G=CA2122506122CHD8c.5303C= (p.Pro1768=)
c.3840C=
c.6140C= (p.Pro2047=)
n.5296C=
14g.21393655G>TCA388880325CHD8c.5303C>A (p.Pro1768His)
c.3840C>A
c.6140C>A (p.Pro2047His)
n.5296C>A
14g.21393656G>ACA388880327CHD8c.5302C>T (p.Pro1768Ser)
c.3839C>T
c.6139C>T (p.Pro2047Ser)
n.5295C>T
 dbSNP gnomAD v3 gnomAD v4
14g.21393656G>CCA388880328CHD8c.5302C>G (p.Pro1768Ala)
c.3839C>G
c.6139C>G (p.Pro2047Ala)
n.5295C>G
14g.21393656G=CA2122506124CHD8c.5302C= (p.Pro1768=)
c.3839C=
c.6139C= (p.Pro2047=)
n.5295C=
14g.21393656G>TCA388880329CHD8c.5302C>A (p.Pro1768Thr)
c.3839C>A
c.6139C>A (p.Pro2047Thr)
n.5295C>A
14g.21393657G>ACA484995102CHD8c.5301C>T (p.Ser1767=)
c.3838C>T
c.6138C>T (p.Ser2046=)
n.5294C>T
14g.21393657G>CCA484995103CHD8c.5301C>G (p.Ser1767=)
c.3838C>G
c.6138C>G (p.Ser2046=)
n.5294C>G
14g.21393657G>TCA484995104CHD8c.5301C>A (p.Ser1767=)
c.3838C>A
c.6138C>A (p.Ser2046=)
n.5294C>A
14g.21393658G>ACA7090833CHD8c.5300C>T (p.Ser1767Phe)
c.3837C>T
c.6137C>T (p.Ser2046Phe)
n.5293C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21393658G>CCA388880330CHD8c.5300C>G (p.Ser1767Cys)
c.3837C>G
c.6137C>G (p.Ser2046Cys)
n.5293C>G
 dbSNP gnomAD v3 gnomAD v4
14g.21393658G=CA2122506125CHD8c.5300C= (p.Ser1767=)
c.3837C=
c.6137C= (p.Ser2046=)
n.5293C=
14g.21393658G>TCA388880331CHD8c.5300C>A (p.Ser1767Tyr)
c.3837C>A
c.6137C>A (p.Ser2046Tyr)
n.5293C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.21393659A>CCA388880332CHD8c.5299T>G (p.Ser1767Ala)
c.3836T>G
c.6136T>G (p.Ser2046Ala)
n.5292T>G
14g.21393659A>GCA388880333CHD8c.5299T>C (p.Ser1767Pro)
c.3836T>C
c.6136T>C (p.Ser2046Pro)
n.5292T>C
14g.21393659A>TCA388880334CHD8c.5299T>A (p.Ser1767Thr)
c.3836T>A
c.6136T>A (p.Ser2046Thr)
n.5292T>A
14g.21393660T>ACA484995105CHD8c.5298A>T (p.Val1766=)
c.3835A>T
c.6135A>T (p.Val2045=)
n.5291A>T
14g.21393660T>CCA484995106CHD8c.5298A>G (p.Val1766=)
c.3835A>G
c.6135A>G (p.Val2045=)
n.5291A>G
 COSMIC COSMIC
14g.21393660T>GCA484995107CHD8c.5298A>C (p.Val1766=)
c.3835A>C
c.6135A>C (p.Val2045=)
n.5291A>C
14g.21393661A>CCA388880335CHD8c.5297T>G (p.Val1766Gly)
c.3834T>G
c.6134T>G (p.Val2045Gly)
n.5290T>G
14g.21393661A>GCA388880336CHD8c.5297T>C (p.Val1766Ala)
c.3834T>C
c.6134T>C (p.Val2045Ala)
n.5290T>C
14g.21393661A>TCA388880337CHD8c.5297T>A (p.Val1766Glu)
c.3834T>A
c.6134T>A (p.Val2045Glu)
n.5290T>A
14g.21393662C>ACA388880338CHD8c.5296G>T (p.Val1766Leu)
c.3833G>T
c.6133G>T (p.Val2045Leu)
n.5289G>T
14g.21393662C=CA2122506127CHD8c.5296G= (p.Val1766=)
c.3833G=
c.6133G= (p.Val2045=)
n.5289G=
14g.21393662C>GCA388880339CHD8c.5296G>C (p.Val1766Leu)
c.3833G>C
c.6133G>C (p.Val2045Leu)
n.5289G>C
14g.21393662C>TCA7090834CHD8c.5296G>A (p.Val1766Ile)
c.3833G>A
c.6133G>A (p.Val2045Ile)
n.5289G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21393663T>ACA484995109CHD8c.5295A>T (p.Arg1765=)
c.3832A>T
c.6132A>T (p.Arg2044=)
n.5288A>T
14g.21393663T>CCA484995110CHD8c.5295A>G (p.Arg1765=)
c.3832A>G
c.6132A>G (p.Arg2044=)
n.5288A>G
14g.21393663T>GCA484995111CHD8c.5295A>C (p.Arg1765=)
c.3832A>C
c.6132A>C (p.Arg2044=)
n.5288A>C
14g.21393664C>ACA388880340CHD8c.5294G>T (p.Arg1765Leu)
c.3831G>T
c.6131G>T (p.Arg2044Leu)
n.5287G>T
14g.21393664C=CA2122506131CHD8c.5294G= (p.Arg1765=)
c.3831G=
c.6131G= (p.Arg2044=)
n.5287G=
14g.21393664C>GCA388880341CHD8c.5294G>C (p.Arg1765Pro)
c.3831G>C
c.6131G>C (p.Arg2044Pro)
n.5287G>C
14g.21393664C>TCA7090835CHD8c.5294G>A (p.Arg1765Gln)
c.3831G>A
c.6131G>A (p.Arg2044Gln)
n.5287G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393665G>ACA388880342CHD8c.5293C>T (p.Arg1765Ter)
c.3830C>T
c.6130C>T (p.Arg2044Ter)
n.5286C>T
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
14g.21393665G>CCA7090836CHD8c.5293C>G (p.Arg1765Gly)
c.3830C>G
c.6130C>G (p.Arg2044Gly)
n.5286C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393665G=CA2122506133CHD8c.5293C= (p.Arg1765=)
c.3830C=
c.6130C= (p.Arg2044=)
n.5286C=
14g.21393665G>TCA484995115CHD8c.5293C>A (p.Arg1765=)
c.3830C>A
c.6130C>A (p.Arg2044=)
n.5286C>A
14g.21393666C>ACA388880343CHD8c.5292G>T (p.Met1764Ile)
c.3829G>T
c.6129G>T (p.Met2043Ile)
n.5285G>T
14g.21393666C>GCA388880344CHD8c.5292G>C (p.Met1764Ile)
c.3829G>C
c.6129G>C (p.Met2043Ile)
n.5285G>C
14g.21393666C>TCA388880345CHD8c.5292G>A (p.Met1764Ile)
c.3829G>A
c.6129G>A (p.Met2043Ile)
n.5285G>A
14g.21393667A>CCA388880346CHD8c.5291T>G (p.Met1764Arg)
c.3828T>G
c.6128T>G (p.Met2043Arg)
n.5284T>G
14g.21393667A>GCA388880347CHD8c.5291T>C (p.Met1764Thr)
c.3828T>C
c.6128T>C (p.Met2043Thr)
n.5284T>C
14g.21393667A>TCA388880348CHD8c.5291T>A (p.Met1764Lys)
c.3828T>A
c.6128T>A (p.Met2043Lys)
n.5284T>A
 gnomAD v4
14g.21393668T>ACA388880351CHD8c.5290A>T (p.Met1764Leu)
c.3827A>T
c.6127A>T (p.Met2043Leu)
n.5283A>T
 gnomAD v4
14g.21393668T>CCA388880350CHD8c.5290A>G (p.Met1764Val)
c.3827A>G
c.6127A>G (p.Met2043Val)
n.5283A>G
14g.21393668T>GCA388880349CHD8c.5290A>C (p.Met1764Leu)
c.3827A>C
c.6127A>C (p.Met2043Leu)
n.5283A>C
14g.21393669C>ACA388880352CHD8c.5289G>T (p.Glu1763Asp)
c.3826G>T
c.6126G>T (p.Glu2042Asp)
n.5282G>T
14g.21393669C>GCA388880353CHD8c.5289G>C (p.Glu1763Asp)
c.3826G>C
c.6126G>C (p.Glu2042Asp)
n.5282G>C
14g.21393669C>TCA484995118CHD8c.5289G>A (p.Glu1763=)
c.3826G>A
c.6126G>A (p.Glu2042=)
n.5282G>A
 gnomAD v4 COSMIC COSMIC
14g.21393670T>ACA388880354CHD8c.5288A>T (p.Glu1763Val)
c.3825A>T
c.6125A>T (p.Glu2042Val)
n.5281A>T
14g.21393670T>CCA388880355CHD8c.5288A>G (p.Glu1763Gly)
c.3825A>G
c.6125A>G (p.Glu2042Gly)
n.5281A>G
14g.21393670T>GCA388880356CHD8c.5288A>C (p.Glu1763Ala)
c.3825A>C
c.6125A>C (p.Glu2042Ala)
n.5281A>C
14g.21393671C>ACA388880357CHD8c.5287G>T (p.Glu1763Ter)
c.3824G>T
c.6124G>T (p.Glu2042Ter)
n.5280G>T
n.918G>T
 dbSNP
14g.21393671C=CA2122506135CHD8c.5287G= (p.Glu1763=)
c.3824G=
c.6124G= (p.Glu2042=)
n.5280G=
n.918G=
14g.21393671C>GCA388880358CHD8c.5287G>C (p.Glu1763Gln)
c.3824G>C
c.6124G>C (p.Glu2042Gln)
n.5280G>C
n.918G>C
14g.21393671C>TCA388880359CHD8c.5287G>A (p.Glu1763Lys)
c.3824G>A
c.6124G>A (p.Glu2042Lys)
n.5280G>A
n.918G>A
14g.21393672A>CCA388880360CHD8c.5286T>G (p.Tyr1762Ter)
c.3823T>G
c.6123T>G (p.Tyr2041Ter)
n.5279T>G
n.917T>G
 gnomAD v4
14g.21393672A>GCA484995121CHD8c.5286T>C (p.Tyr1762=)
c.3823T>C
c.6123T>C (p.Tyr2041=)
n.5279T>C
n.917T>C
14g.21393672A>TCA388880361CHD8c.5286T>A (p.Tyr1762Ter)
c.3823T>A
c.6123T>A (p.Tyr2041Ter)
n.5279T>A
n.917T>A
14g.21393673_21393674delCA2695219072CHD8c.5285_5286del (p.Tyr1762Ter)
c.3822_3823del
c.6122_6123del (p.Tyr2041Ter)
n.5278_5279del
n.916_917del
14g.21393673T>ACA388880362CHD8c.5285A>T (p.Tyr1762Phe)
c.3822A>T
c.6122A>T (p.Tyr2041Phe)
n.5278A>T
n.916A>T
 gnomAD v4
14g.21393673T>CCA388880363CHD8c.5285A>G (p.Tyr1762Cys)
c.3822A>G
c.6122A>G (p.Tyr2041Cys)
n.5278A>G
n.916A>G
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
14g.21393673T>GCA388880364CHD8c.5285A>C (p.Tyr1762Ser)
c.3822A>C
c.6122A>C (p.Tyr2041Ser)
n.5278A>C
n.916A>C
 gnomAD v4
14g.21393673T=CA2122506137CHD8c.5285A= (p.Tyr1762=)
c.3822A=
c.6122A= (p.Tyr2041=)
n.5278A=
n.916A=
14g.21393674A=CA2122506139CHD8c.5284T= (p.Tyr1762=)
c.3821T=
c.6121T= (p.Tyr2041=)
n.5277T=
n.915T=
14g.21393674A>CCA388880366CHD8c.5284T>G (p.Tyr1762Asp)
c.3821T>G
c.6121T>G (p.Tyr2041Asp)
n.5277T>G
n.915T>G
14g.21393674A>GCA388880367CHD8c.5284T>C (p.Tyr1762His)
c.3821T>C
c.6121T>C (p.Tyr2041His)
n.5277T>C
n.915T>C
 dbSNP gnomAD v4
14g.21393674A>TCA388880365CHD8c.5284T>A (p.Tyr1762Asn)
c.3821T>A
c.6121T>A (p.Tyr2041Asn)
n.5277T>A
n.915T>A
 gnomAD v4
14g.21393675G>ACA484995124CHD8c.5283C>T (p.Asp1761=)
c.3820C>T
c.6120C>T (p.Asp2040=)
n.5276C>T
n.914C>T
 dbSNP
14g.21393675G>CCA388880368CHD8c.5283C>G (p.Asp1761Glu)
c.3820C>G
c.6120C>G (p.Asp2040Glu)
n.5276C>G
n.914C>G
 gnomAD v4
14g.21393675G=CA2122506141CHD8c.5283C= (p.Asp1761=)
c.3820C=
c.6120C= (p.Asp2040=)
n.5276C=
n.914C=
14g.21393675G>TCA388880369CHD8c.5283C>A (p.Asp1761Glu)
c.3820C>A
c.6120C>A (p.Asp2040Glu)
n.5276C>A
n.914C>A
14g.21393676T>ACA388880370CHD8c.5282A>T (p.Asp1761Val)
c.3819A>T
c.6119A>T (p.Asp2040Val)
n.5275A>T
n.913A>T
14g.21393676T>CCA202496CHD8c.5282A>G (p.Asp1761Gly)
c.3819A>G
c.6119A>G (p.Asp2040Gly)
n.5275A>G
n.913A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393676T>GCA388880371CHD8c.5282A>C (p.Asp1761Ala)
c.3819A>C
c.6119A>C (p.Asp2040Ala)
n.5275A>C
n.913A>C
14g.21393676T=CA2122506144CHD8c.5282A= (p.Asp1761=)
c.3819A=
c.6119A= (p.Asp2040=)
n.5275A=
n.913A=
14g.21393677C>ACA388880372CHD8c.5281G>T (p.Asp1761Tyr)
c.3818G>T
c.6118G>T (p.Asp2040Tyr)
n.5274G>T
n.912G>T
14g.21393677C=CA2122506147CHD8c.5281G= (p.Asp1761=)
c.3818G=
c.6118G= (p.Asp2040=)
n.5274G=
n.912G=
14g.21393677C>GCA388880373CHD8c.5281G>C (p.Asp1761His)
c.3818G>C
c.6118G>C (p.Asp2040His)
n.5274G>C
n.912G>C
14g.21393677C>TCA7090837CHD8c.5281G>A (p.Asp1761Asn)
c.3818G>A
c.6118G>A (p.Asp2040Asn)
n.5274G>A
n.912G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21393678T>ACA388880374CHD8c.5280A>T (p.Gln1760His)
c.3817A>T
c.6117A>T (p.Gln2039His)
n.5273A>T
n.911A>T
14g.21393678T>CCA484995132CHD8c.5280A>G (p.Gln1760=)
c.3817A>G
c.6117A>G (p.Gln2039=)
n.5273A>G
n.911A>G
14g.21393678T>GCA388880375CHD8c.5280A>C (p.Gln1760His)
c.3817A>C
c.6117A>C (p.Gln2039His)
n.5273A>C
n.911A>C
14g.21393679T>ACA7090838CHD8c.5279A>T (p.Gln1760Leu)
c.3816A>T
c.6116A>T (p.Gln2039Leu)
n.5272A>T
n.910A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21393679T>CCA388880376CHD8c.5279A>G (p.Gln1760Arg)
c.3816A>G
c.6116A>G (p.Gln2039Arg)
n.5272A>G
n.910A>G
 gnomAD v4
14g.21393679T>GCA388880377CHD8c.5279A>C (p.Gln1760Pro)
c.3816A>C
c.6116A>C (p.Gln2039Pro)
n.5272A>C
n.910A>C
14g.21393679T=CA2122506149CHD8c.5279A= (p.Gln1760=)
c.3816A=
c.6116A= (p.Gln2039=)
n.5272A=
n.910A=
14g.21393680delCA2695219073CHD8c.5278del (p.Gln1760LysfsTer?)
c.3815del
c.6115del (p.Gln2039LysfsTer?)
n.5271del
n.909del
14g.21393680G>ACA388880380CHD8c.5278C>T (p.Gln1760Ter)
c.3815C>T
c.6115C>T (p.Gln2039Ter)
n.5271C>T
n.909C>T
 dbSNP COSMIC COSMIC
14g.21393680G>CCA388880379CHD8c.5278C>G (p.Gln1760Glu)
c.3815C>G
c.6115C>G (p.Gln2039Glu)
n.5271C>G
n.909C>G
14g.21393680G=CA2122506151CHD8c.5278C= (p.Gln1760=)
c.3815C=
c.6115C= (p.Gln2039=)
n.5271C=
n.909C=
14g.21393680G>TCA388880378CHD8c.5278C>A (p.Gln1760Lys)
c.3815C>A
c.6115C>A (p.Gln2039Lys)
n.5271C>A
n.909C>A
14g.21393681T>ACA7090839CHD8c.5277A>T (p.Pro1759=)
c.3814A>T
c.6114A>T (p.Pro2038=)
n.5270A>T
n.908A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393681T>CCA484995135CHD8c.5277A>G (p.Pro1759=)
c.3814A>G
c.6114A>G (p.Pro2038=)
n.5270A>G
n.908A>G
 dbSNP gnomAD v4
14g.21393681T>GCA484995137CHD8c.5277A>C (p.Pro1759=)
c.3814A>C
c.6114A>C (p.Pro2038=)
n.5270A>C
n.908A>C
14g.21393681T=CA2122506153CHD8c.5277A= (p.Pro1759=)
c.3814A=
c.6114A= (p.Pro2038=)
n.5270A=
n.908A=
14g.21393682G>ACA388880381CHD8c.5276C>T (p.Pro1759Leu)
c.3813C>T
c.6113C>T (p.Pro2038Leu)
n.5269C>T
n.907C>T
14g.21393682G>CCA388880382CHD8c.5276C>G (p.Pro1759Arg)
c.3813C>G
c.6113C>G (p.Pro2038Arg)
n.5269C>G
n.907C>G
14g.21393682G>TCA388880383CHD8c.5276C>A (p.Pro1759Gln)
c.3813C>A
c.6113C>A (p.Pro2038Gln)
n.5269C>A
n.907C>A
14g.21393683G>ACA388880384CHD8c.5275C>T (p.Pro1759Ser)
c.3812C>T
c.6112C>T (p.Pro2038Ser)
n.5268C>T
n.906C>T
14g.21393683G>CCA388880385CHD8c.5275C>G (p.Pro1759Ala)
c.3812C>G
c.6112C>G (p.Pro2038Ala)
n.5268C>G
n.906C>G
14g.21393683G>TCA388880386CHD8c.5275C>A (p.Pro1759Thr)
c.3812C>A
c.6112C>A (p.Pro2038Thr)
n.5268C>A
n.906C>A
 COSMIC COSMIC
14g.21393684G>ACA484995140CHD8c.5274C>T (p.Thr1758=)
c.3811C>T
c.6111C>T (p.Thr2037=)
n.5267C>T
n.905C>T
14g.21393684G>CCA484995141CHD8c.5274C>G (p.Thr1758=)
c.3811C>G
c.6111C>G (p.Thr2037=)
n.5267C>G
n.905C>G
14g.21393684G>TCA484995142CHD8c.5274C>A (p.Thr1758=)
c.3811C>A
c.6111C>A (p.Thr2037=)
n.5267C>A
n.905C>A
14g.21393685G>ACA388880387CHD8c.5273C>T (p.Thr1758Ile)
c.3810C>T
c.6110C>T (p.Thr2037Ile)
n.5266C>T
n.904C>T
 dbSNP gnomAD v3 gnomAD v4
14g.21393685G>CCA388880388CHD8c.5273C>G (p.Thr1758Ser)
c.3810C>G
c.6110C>G (p.Thr2037Ser)
n.5266C>G
n.904C>G
14g.21393685G=CA2122506155CHD8c.5273C= (p.Thr1758=)
c.3810C=
c.6110C= (p.Thr2037=)
n.5266C=
n.904C=
14g.21393685G>TCA388880389CHD8c.5273C>A (p.Thr1758Asn)
c.3810C>A
c.6110C>A (p.Thr2037Asn)
n.5266C>A
n.904C>A
14g.21393686T>ACA388880390CHD8c.5272A>T (p.Thr1758Ser)
c.3809A>T
c.6109A>T (p.Thr2037Ser)
n.5265A>T
n.903A>T
14g.21393686T>CCA388880391CHD8c.5272A>G (p.Thr1758Ala)
c.3809A>G
c.6109A>G (p.Thr2037Ala)
n.5265A>G
n.903A>G
14g.21393686T>GCA388880392CHD8c.5272A>C (p.Thr1758Pro)
c.3809A>C
c.6109A>C (p.Thr2037Pro)
n.5265A>C
n.903A>C
14g.21393687T>ACA484995148CHD8c.5271A>T (p.Pro1757=)
c.3808A>T
c.6108A>T (p.Pro2036=)
n.5264A>T
n.902A>T
14g.21393687T>CCA484995150CHD8c.5271A>G (p.Pro1757=)
c.3808A>G
c.6108A>G (p.Pro2036=)
n.5264A>G
n.902A>G
 gnomAD v4
14g.21393687T>GCA7090840CHD8c.5271A>C (p.Pro1757=)
c.3808A>C
c.6108A>C (p.Pro2036=)
n.5264A>C
n.902A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21393687T=CA2122506157CHD8c.5271A= (p.Pro1757=)
c.3808A=
c.6108A= (p.Pro2036=)
n.5264A=
n.902A=
14g.21393688G>ACA388880394CHD8c.5270C>T (p.Pro1757Leu)
c.3807C>T
c.6107C>T (p.Pro2036Leu)
n.5263C>T
n.901C>T
 gnomAD v4
14g.21393688G>CCA257593148CHD8c.5270C>G (p.Pro1757Arg)
c.3807C>G
c.6107C>G (p.Pro2036Arg)
n.5263C>G
n.901C>G
 ClinVar dbSNP gnomAD v4
14g.21393688G=CA2122506159CHD8c.5270C= (p.Pro1757=)
c.3807C=
c.6107C= (p.Pro2036=)
n.5263C=
n.901C=
14g.21393688G>TCA388880393CHD8c.5270C>A (p.Pro1757Gln)
c.3807C>A
c.6107C>A (p.Pro2036Gln)
n.5263C>A
n.901C>A
14g.21393689G>ACA388880395CHD8c.5269C>T (p.Pro1757Ser)
c.3806C>T
c.6106C>T (p.Pro2036Ser)
n.5262C>T
n.900C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
14g.21393689G>CCA388880396CHD8c.5269C>G (p.Pro1757Ala)
c.3806C>G
c.6106C>G (p.Pro2036Ala)
n.5262C>G
n.900C>G
 COSMIC COSMIC
14g.21393689G=CA2122506161CHD8c.5269C= (p.Pro1757=)
c.3806C=
c.6106C= (p.Pro2036=)
n.5262C=
n.900C=
14g.21393689G>TCA388880397CHD8c.5269C>A (p.Pro1757Thr)
c.3806C>A
c.6106C>A (p.Pro2036Thr)
n.5262C>A
n.900C>A
 dbSNP gnomAD v3 gnomAD v4
14g.21393690T>ACA484995156CHD8c.5268A>T (p.Arg1756=)
c.3805A>T
c.6105A>T (p.Arg2035=)
n.5261A>T
n.899A>T
14g.21393690T>CCA484995157CHD8c.5268A>G (p.Arg1756=)
c.3805A>G
c.6105A>G (p.Arg2035=)
n.5261A>G
n.899A>G
14g.21393690T>GCA484995160CHD8c.5268A>C (p.Arg1756=)
c.3805A>C
c.6105A>C (p.Arg2035=)
n.5261A>C
n.899A>C
14g.21393691C>ACA388880398CHD8c.5267G>T (p.Arg1756Leu)
c.3804G>T
c.6104G>T (p.Arg2035Leu)
n.5260G>T
n.898G>T
14g.21393691C=CA2122506164CHD8c.5267G= (p.Arg1756=)
c.3804G=
c.6104G= (p.Arg2035=)
n.5260G=
n.898G=
14g.21393691C>GCA388880399CHD8c.5267G>C (p.Arg1756Pro)
c.3804G>C
c.6104G>C (p.Arg2035Pro)
n.5260G>C
n.898G>C
14g.21393691C>TCA257593154CHD8c.5267G>A (p.Arg1756Gln)
c.3804G>A
c.6104G>A (p.Arg2035Gln)
n.5260G>A
n.898G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
14g.21393692G>ACA388880400CHD8c.5266C>T (p.Arg1756Ter)
c.3803C>T
c.6103C>T (p.Arg2035Ter)
n.5259C>T
n.897C>T
 ClinVar dbSNP
14g.21393692G>CCA388880401CHD8c.5266C>G (p.Arg1756Gly)
c.3803C>G
c.6103C>G (p.Arg2035Gly)
n.5259C>G
n.897C>G
14g.21393692G=CA2122506165CHD8c.5266C= (p.Arg1756=)
c.3803C=
c.6103C= (p.Arg2035=)
n.5259C=
n.897C=
14g.21393692G>TCA484995164CHD8c.5266C>A (p.Arg1756=)
c.3803C>A
c.6103C>A (p.Arg2035=)
n.5259C>A
n.897C>A
14g.21393693G>ACA484995167CHD8c.5265C>T (p.Ser1755=)
c.3802C>T
c.6102C>T (p.Ser2034=)
n.5258C>T
n.896C>T
14g.21393693G>CCA388880402CHD8c.5265C>G (p.Ser1755Arg)
c.3802C>G
c.6102C>G (p.Ser2034Arg)
n.5258C>G
n.896C>G
14g.21393693G>TCA388880403CHD8c.5265C>A (p.Ser1755Arg)
c.3802C>A
c.6102C>A (p.Ser2034Arg)
n.5258C>A
n.896C>A
14g.21393694C>ACA388880404CHD8c.5264G>T (p.Ser1755Ile)
c.3801G>T
c.6101G>T (p.Ser2034Ile)
n.5257G>T
n.895G>T
14g.21393694C>GCA388880405CHD8c.5264G>C (p.Ser1755Thr)
c.3801G>C
c.6101G>C (p.Ser2034Thr)
n.5257G>C
n.895G>C
14g.21393694C>TCA388880406CHD8c.5264G>A (p.Ser1755Asn)
c.3801G>A
c.6101G>A (p.Ser2034Asn)
n.5257G>A
n.895G>A
14g.21393695T>ACA388880409CHD8c.5263A>T (p.Ser1755Cys)
c.3800A>T
c.6100A>T (p.Ser2034Cys)
n.5256A>T
n.894A>T
14g.21393695T>CCA388880408CHD8c.5263A>G (p.Ser1755Gly)
c.3800A>G
c.6100A>G (p.Ser2034Gly)
n.5256A>G
n.894A>G
14g.21393695T>GCA388880407CHD8c.5263A>C (p.Ser1755Arg)
c.3800A>C
c.6100A>C (p.Ser2034Arg)
n.5256A>C
n.894A>C
14g.21393696C>ACA388880410CHD8c.5262G>T (p.Arg1754Ser)
c.3799G>T
c.6099G>T (p.Arg2033Ser)
n.5255G>T
n.893G>T
14g.21393696C>GCA388880411CHD8c.5262G>C (p.Arg1754Ser)
c.3799G>C
c.6099G>C (p.Arg2033Ser)
n.5255G>C
n.893G>C
14g.21393696C>TCA484995170CHD8c.5262G>A (p.Arg1754=)
c.3799G>A
c.6099G>A (p.Arg2033=)
n.5255G>A
n.893G>A
 ClinVar
14g.21393697C>ACA388880412CHD8c.5261G>T (p.Arg1754Met)
c.3798G>T
c.6098G>T (p.Arg2033Met)
n.5254G>T
n.892G>T
14g.21393697C>GCA388880413CHD8c.5261G>C (p.Arg1754Thr)
c.3798G>C
c.6098G>C (p.Arg2033Thr)
n.5254G>C
n.892G>C
14g.21393697C>TCA388880414CHD8c.5261G>A (p.Arg1754Lys)
c.3798G>A
c.6098G>A (p.Arg2033Lys)
n.5254G>A
n.892G>A
 gnomAD v4
14g.21393698T>ACA388880415CHD8c.5260A>T (p.Arg1754Trp)
c.3797A>T
c.6097A>T (p.Arg2033Trp)
n.5253A>T
n.891A>T
14g.21393698T>CCA388880416CHD8c.5260A>G (p.Arg1754Gly)
c.3797A>G
c.6097A>G (p.Arg2033Gly)
n.5253A>G
n.891A>G
14g.21393698T>GCA484995172CHD8c.5260A>C (p.Arg1754=)
c.3797A>C
c.6097A>C (p.Arg2033=)
n.5253A>C
n.891A>C
14g.21393699G>ACA484995176CHD8c.5259C>T (p.Ala1753=)
c.3796C>T
c.6096C>T (p.Ala2032=)
n.5252C>T
n.890C>T
14g.21393699G>CCA484995178CHD8c.5259C>G (p.Ala1753=)
c.3796C>G
c.6096C>G (p.Ala2032=)
n.5252C>G
n.890C>G
14g.21393699G>TCA484995179CHD8c.5259C>A (p.Ala1753=)
c.3796C>A
c.6096C>A (p.Ala2032=)
n.5252C>A
n.890C>A
14g.21393700G>ACA388880417CHD8c.5258C>T (p.Ala1753Val)
c.3795C>T
c.6095C>T (p.Ala2032Val)
n.5251C>T
n.889C>T
14g.21393700G>CCA388880418CHD8c.5258C>G (p.Ala1753Gly)
c.3795C>G
c.6095C>G (p.Ala2032Gly)
n.5251C>G
n.889C>G
14g.21393700G>TCA388880419CHD8c.5258C>A (p.Ala1753Asp)
c.3795C>A
c.6095C>A (p.Ala2032Asp)
n.5251C>A
n.889C>A
14g.21393701C>ACA388880420CHD8c.5257G>T (p.Ala1753Ser)
c.3794G>T
c.6094G>T (p.Ala2032Ser)
n.5250G>T
n.888G>T
14g.21393701C=CA2122484022CHD8c.5257G= (p.Ala1753=)
c.3794G=
c.6094G= (p.Ala2032=)
n.5250G=
n.888G=
14g.21393701C>GCA388880421CHD8c.5257G>C (p.Ala1753Pro)
c.3794G>C
c.6094G>C (p.Ala2032Pro)
n.5250G>C
n.888G>C
14g.21393701C>TCA388880422CHD8c.5257G>A (p.Ala1753Thr)
c.3794G>A
c.6094G>A (p.Ala2032Thr)
n.5250G>A
n.888G>A
 dbSNP gnomAD v2 gnomAD v4
14g.21393702C>ACA484995185CHD8c.5256G>T (p.Val1752=)
c.3793G>T
c.6093G>T (p.Val2031=)
n.5249G>T
n.887G>T
14g.21393702C=CA2122484038CHD8c.5256G= (p.Val1752=)
c.3793G=
c.6093G= (p.Val2031=)
n.5249G=
n.887G=
14g.21393702C>GCA484995189CHD8c.5256G>C (p.Val1752=)
c.3793G>C
c.6093G>C (p.Val2031=)
n.5249G>C
n.887G>C
14g.21393702C>TCA484995187CHD8c.5256G>A (p.Val1752=)
c.3793G>A
c.6093G>A (p.Val2031=)
n.5249G>A
n.887G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.21393703A>CCA388880425CHD8c.5255T>G (p.Val1752Gly)
c.3792T>G
c.6092T>G (p.Val2031Gly)
n.5248T>G
n.886T>G
14g.21393703A>GCA388880424CHD8c.5255T>C (p.Val1752Ala)
c.3792T>C
c.6092T>C (p.Val2031Ala)
n.5248T>C
n.886T>C
14g.21393703A>TCA388880423CHD8c.5255T>A (p.Val1752Glu)
c.3792T>A
c.6092T>A (p.Val2031Glu)
n.5248T>A
n.886T>A
14g.21393704C>ACA388880426CHD8c.5254G>T (p.Val1752Leu)
c.3791G>T
c.6091G>T (p.Val2031Leu)
n.5247G>T
n.885G>T
 gnomAD v4
14g.21393704C>GCA388880427CHD8c.5254G>C (p.Val1752Leu)
c.3791G>C
c.6091G>C (p.Val2031Leu)
n.5247G>C
n.885G>C
14g.21393704C>TCA388880428CHD8c.5254G>A (p.Val1752Met)
c.3791G>A
c.6091G>A (p.Val2031Met)
n.5247G>A
n.885G>A
 gnomAD v4
14g.21393705C>ACA484995196CHD8c.5253G>T (p.Val1751=)
c.3790G>T
c.6090G>T (p.Val2030=)
n.5246G>T
n.884G>T
14g.21393705C>GCA484995191CHD8c.5253G>C (p.Val1751=)
c.3790G>C
c.6090G>C (p.Val2030=)
n.5246G>C
n.884G>C
14g.21393705C>TCA484995194CHD8c.5253G>A (p.Val1751=)
c.3790G>A
c.6090G>A (p.Val2030=)
n.5246G>A
n.884G>A
14g.21393706A>CCA388880429CHD8c.5252T>G (p.Val1751Gly)
c.3789T>G
c.6089T>G (p.Val2030Gly)
n.5245T>G
n.883T>G
14g.21393706A>GCA388880430CHD8c.5252T>C (p.Val1751Ala)
c.3789T>C
c.6089T>C (p.Val2030Ala)
n.5245T>C
n.883T>C
14g.21393706A>TCA388880431CHD8c.5252T>A (p.Val1751Glu)
c.3789T>A
c.6089T>A (p.Val2030Glu)
n.5245T>A
n.883T>A
14g.21393707C>ACA388880432CHD8c.5251G>T (p.Val1751Leu)
c.3788G>T
c.6088G>T (p.Val2030Leu)
n.5244G>T
n.882G>T
14g.21393707C=CA2122484045CHD8c.5251G= (p.Val1751=)
c.3788G=
c.6088G= (p.Val2030=)
n.5244G=
n.882G=
14g.21393707C>GCA7090841CHD8c.5251G>C (p.Val1751Leu)
c.3788G>C
c.6088G>C (p.Val2030Leu)
n.5244G>C
n.882G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393707C>TCA388880433CHD8c.5251G>A (p.Val1751Met)
c.3788G>A
c.6088G>A (p.Val2030Met)
n.5244G>A
n.882G>A
14g.21393708C>ACA388880434CHD8c.5250G>T (p.Glu1750Asp)
c.3787G>T
c.6087G>T (p.Glu2029Asp)
n.5243G>T
n.881G>T
 gnomAD v4
14g.21393708C>GCA388880435CHD8c.5250G>C (p.Glu1750Asp)
c.3787G>C
c.6087G>C (p.Glu2029Asp)
n.5243G>C
n.881G>C
14g.21393708C>TCA484995202CHD8c.5250G>A (p.Glu1750=)
c.3787G>A
c.6087G>A (p.Glu2029=)
n.5243G>A
n.881G>A
 gnomAD v4
14g.21393709T>ACA388880436CHD8c.5249A>T (p.Glu1750Val)
c.3786A>T
c.6086A>T (p.Glu2029Val)
n.5242A>T
n.880A>T
14g.21393709T>CCA388880437CHD8c.5249A>G (p.Glu1750Gly)
c.3786A>G
c.6086A>G (p.Glu2029Gly)
n.5242A>G
n.880A>G
14g.21393709T>GCA388880438CHD8c.5249A>C (p.Glu1750Ala)
c.3786A>C
c.6086A>C (p.Glu2029Ala)
n.5242A>C
n.880A>C
14g.21393710C>ACA388880440CHD8c.5248G>T (p.Glu1750Ter)
c.3785G>T
c.6085G>T (p.Glu2029Ter)
n.5241G>T
n.879G>T
 dbSNP
14g.21393710C=CA2122484061CHD8c.5248G= (p.Glu1750=)
c.3785G=
c.6085G= (p.Glu2029=)
n.5241G=
n.879G=
14g.21393710C>GCA388880439CHD8c.5248G>C (p.Glu1750Gln)
c.3785G>C
c.6085G>C (p.Glu2029Gln)
n.5241G>C
n.879G>C
14g.21393710C>TCA243736CHD8c.5248G>A (p.Glu1750Lys)
c.3785G>A
c.6085G>A (p.Glu2029Lys)
n.5241G>A
n.879G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393711G>ACA7090842CHD8c.5247C>T (p.His1749=)
c.3784C>T
c.6084C>T (p.His2028=)
n.5240C>T
n.878C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393711G>CCA388880441CHD8c.5247C>G (p.His1749Gln)
c.3784C>G
c.6084C>G (p.His2028Gln)
n.5240C>G
n.878C>G
14g.21393711G=CA2122484063CHD8c.5247C= (p.His1749=)
c.3784C=
c.6084C= (p.His2028=)
n.5240C=
n.878C=
14g.21393711G>TCA388880442CHD8c.5247C>A (p.His1749Gln)
c.3784C>A
c.6084C>A (p.His2028Gln)
n.5240C>A
n.878C>A
14g.21393712T>ACA388880443CHD8c.5246A>T (p.His1749Leu)
c.3783A>T
c.6083A>T (p.His2028Leu)
n.5239A>T
n.877A>T
14g.21393712T>CCA388880444CHD8c.5246A>G (p.His1749Arg)
c.3783A>G
c.6083A>G (p.His2028Arg)
n.5239A>G
n.877A>G
14g.21393712T>GCA388880445CHD8c.5246A>C (p.His1749Pro)
c.3783A>C
c.6083A>C (p.His2028Pro)
n.5239A>C
n.877A>C
14g.21393713G>ACA388880446CHD8c.5245C>T (p.His1749Tyr)
c.3782C>T
c.6082C>T (p.His2028Tyr)
n.5238C>T
n.876C>T
 gnomAD v4
14g.21393713G>CCA388880447CHD8c.5245C>G (p.His1749Asp)
c.3782C>G
c.6082C>G (p.His2028Asp)
n.5238C>G
n.876C>G
14g.21393713G>TCA388880448CHD8c.5245C>A (p.His1749Asn)
c.3782C>A
c.6082C>A (p.His2028Asn)
n.5238C>A
n.876C>A
14g.21393714C>ACA388880449CHD8c.5244G>T (p.Glu1748Asp)
c.3781G>T
c.6081G>T (p.Glu2027Asp)
n.5237G>T
n.875G>T
14g.21393714C>GCA388880450CHD8c.5244G>C (p.Glu1748Asp)
c.3781G>C
c.6081G>C (p.Glu2027Asp)
n.5237G>C
n.875G>C
14g.21393714C>TCA484995216CHD8c.5244G>A (p.Glu1748=)
c.3781G>A
c.6081G>A (p.Glu2027=)
n.5237G>A
n.875G>A
 ClinVar
14g.21393715T>ACA388880451CHD8c.5243A>T (p.Glu1748Val)
c.3780A>T
c.6080A>T (p.Glu2027Val)
n.5236A>T
n.874A>T
14g.21393715T>CCA388880452CHD8c.5243A>G (p.Glu1748Gly)
c.3780A>G
c.6080A>G (p.Glu2027Gly)
n.5236A>G
n.874A>G
14g.21393715T>GCA388880453CHD8c.5243A>C (p.Glu1748Ala)
c.3780A>C
c.6080A>C (p.Glu2027Ala)
n.5236A>C
n.874A>C
14g.21393716C>ACA388880455CHD8c.5242G>T (p.Glu1748Ter)
c.3779G>T
c.6079G>T (p.Glu2027Ter)
n.5235G>T
n.873G>T
 dbSNP
14g.21393716C=CA2122484068CHD8c.5242G= (p.Glu1748=)
c.3779G=
c.6079G= (p.Glu2027=)
n.5235G=
n.873G=
14g.21393716C>GCA388880456CHD8c.5242G>C (p.Glu1748Gln)
c.3779G>C
c.6079G>C (p.Glu2027Gln)
n.5235G>C
n.873G>C
14g.21393716C>TCA388880454CHD8c.5242G>A (p.Glu1748Lys)
c.3779G>A
c.6079G>A (p.Glu2027Lys)
n.5235G>A
n.873G>A
14g.21393717T>ACA484995223CHD8c.5241A>T (p.Leu1747=)
c.3778A>T
c.6078A>T (p.Leu2026=)
n.5234A>T
n.872A>T
14g.21393717T>CCA484995224CHD8c.5241A>G (p.Leu1747=)
c.3778A>G
c.6078A>G (p.Leu2026=)
n.5234A>G
n.872A>G
14g.21393717T>GCA484995229CHD8c.5241A>C (p.Leu1747=)
c.3778A>C
c.6078A>C (p.Leu2026=)
n.5234A>C
n.872A>C
14g.21393719_21393724delCA2624078745CHD8c.5236_5241del (p.Lys1746_Leu1747del)
c.3773_3778del
c.6073_6078del (p.Lys2025_Leu2026del)
n.5229_5234del
n.867_872del
 gnomAD v4
14g.21393718A>CCA388880457CHD8c.5240T>G (p.Leu1747Arg)
c.3777T>G
c.6077T>G (p.Leu2026Arg)
n.5233T>G
n.871T>G
14g.21393718A>GCA388880458CHD8c.5240T>C (p.Leu1747Pro)
c.3777T>C
c.6077T>C (p.Leu2026Pro)
n.5233T>C
n.871T>C
 ClinVar
14g.21393718A>TCA388880459CHD8c.5240T>A (p.Leu1747Gln)
c.3777T>A
c.6077T>A (p.Leu2026Gln)
n.5233T>A
n.871T>A
14g.21393719G>ACA484995231CHD8c.5239C>T (p.Leu1747=)
c.3776C>T
c.6076C>T (p.Leu2026=)
n.5232C>T
n.870C>T
14g.21393719G>CCA388880460CHD8c.5239C>G (p.Leu1747Val)
c.3776C>G
c.6076C>G (p.Leu2026Val)
n.5232C>G
n.870C>G
14g.21393719G>TCA388880461CHD8c.5239C>A (p.Leu1747Ile)
c.3776C>A
c.6076C>A (p.Leu2026Ile)
n.5232C>A
n.870C>A
14g.21393720C>ACA388880462CHD8c.5238G>T (p.Lys1746Asn)
c.3775G>T
c.6075G>T (p.Lys2025Asn)
n.5231G>T
n.869G>T
14g.21393720C>GCA388880463CHD8c.5238G>C (p.Lys1746Asn)
c.3775G>C
c.6075G>C (p.Lys2025Asn)
n.5231G>C
n.869G>C
14g.21393720C>TCA484995233CHD8c.5238G>A (p.Lys1746=)
c.3775G>A
c.6075G>A (p.Lys2025=)
n.5231G>A
n.869G>A
14g.21393721T>ACA388880464CHD8c.5237A>T (p.Lys1746Met)
c.3774A>T
c.6074A>T (p.Lys2025Met)
n.5230A>T
n.868A>T
14g.21393721T>CCA388880465CHD8c.5237A>G (p.Lys1746Arg)
c.3774A>G
c.6074A>G (p.Lys2025Arg)
n.5230A>G
n.868A>G
14g.21393721T>GCA388880466CHD8c.5237A>C (p.Lys1746Thr)
c.3774A>C
c.6074A>C (p.Lys2025Thr)
n.5230A>C
n.868A>C
14g.21393722T>ACA388880467CHD8c.5236A>T (p.Lys1746Ter)
c.3773A>T
c.6073A>T (p.Lys2025Ter)
n.5229A>T
n.867A>T
 dbSNP
14g.21393722T>CCA388880468CHD8c.5236A>G (p.Lys1746Glu)
c.3773A>G
c.6073A>G (p.Lys2025Glu)
n.5229A>G
n.867A>G
14g.21393722T>GCA388880469CHD8c.5236A>C (p.Lys1746Gln)
c.3773A>C
c.6073A>C (p.Lys2025Gln)
n.5229A>C
n.867A>C
14g.21393722T=CA2122484072CHD8c.5236A= (p.Lys1746=)
c.3773A=
c.6073A= (p.Lys2025=)
n.5229A=
n.867A=
14g.21393723T>ACA388880471CHD8c.5235A>T (p.Leu1745Phe)
c.3772A>T
c.6072A>T (p.Leu2024Phe)
n.5228A>T
n.866A>T
14g.21393723T>CCA484995237CHD8c.5235A>G (p.Leu1745=)
c.3772A>G
c.6072A>G (p.Leu2024=)
n.5228A>G
n.866A>G
 gnomAD v4
14g.21393723T>GCA388880470CHD8c.5235A>C (p.Leu1745Phe)
c.3772A>C
c.6072A>C (p.Leu2024Phe)
n.5228A>C
n.866A>C
14g.21393724A=CA2122484082CHD8c.5234T= (p.Leu1745=)
c.3771T=
c.6071T= (p.Leu2024=)
n.5227T=
n.865T=
14g.21393724A>CCA388880472CHD8c.5234T>G (p.Leu1745Ter)
c.3771T>G
c.6071T>G (p.Leu2024Ter)
n.5227T>G
n.865T>G
14g.21393724A>GCA388880473CHD8c.5234T>C (p.Leu1745Ser)
c.3771T>C
c.6071T>C (p.Leu2024Ser)
n.5227T>C
n.865T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.21393724A>TCA388880474CHD8c.5234T>A (p.Leu1745Ter)
c.3771T>A
c.6071T>A (p.Leu2024Ter)
n.5227T>A
n.865T>A
14g.21393725A>CCA388880475CHD8c.5233T>G (p.Leu1745Val)
c.3770T>G
c.6070T>G (p.Leu2024Val)
n.5226T>G
n.864T>G
14g.21393725A>GCA484995240CHD8c.5233T>C (p.Leu1745=)
c.3770T>C
c.6070T>C (p.Leu2024=)
n.5226T>C
n.864T>C
14g.21393725A>TCA388880476CHD8c.5233T>A (p.Leu1745Ile)
c.3770T>A
c.6070T>A (p.Leu2024Ile)
n.5226T>A
n.864T>A
14g.21393726A>CCA484995246CHD8c.5232T>G (p.Thr1744=)
c.3769T>G
c.6069T>G (p.Thr2023=)
n.5225T>G
n.863T>G
14g.21393726A>GCA484995248CHD8c.5232T>C (p.Thr1744=)
c.3769T>C
c.6069T>C (p.Thr2023=)
n.5225T>C
n.863T>C
14g.21393726A>TCA484995247CHD8c.5232T>A (p.Thr1744=)
c.3769T>A
c.6069T>A (p.Thr2023=)
n.5225T>A
n.863T>A
 gnomAD v4
14g.21393727G>ACA388880477CHD8c.5231C>T (p.Thr1744Ile)
c.3768C>T
c.6068C>T (p.Thr2023Ile)
n.5224C>T
n.862C>T
 COSMIC COSMIC
14g.21393727G>CCA388880478CHD8c.5231C>G (p.Thr1744Ser)
c.3768C>G
c.6068C>G (p.Thr2023Ser)
n.5224C>G
n.862C>G
 dbSNP gnomAD v3 gnomAD v4
14g.21393727G=CA2122484090CHD8c.5231C= (p.Thr1744=)
c.3768C=
c.6068C= (p.Thr2023=)
n.5224C=
n.862C=
14g.21393727G>TCA388880479CHD8c.5231C>A (p.Thr1744Asn)
c.3768C>A
c.6068C>A (p.Thr2023Asn)
n.5224C>A
n.862C>A
14g.21393728T>ACA388880480CHD8c.5230A>T (p.Thr1744Ser)
c.3767A>T
c.6067A>T (p.Thr2023Ser)
n.5223A>T
n.861A>T
 gnomAD v4
14g.21393728T>CCA388880481CHD8c.5230A>G (p.Thr1744Ala)
c.3767A>G
c.6067A>G (p.Thr2023Ala)
n.5223A>G
n.861A>G
14g.21393728T>GCA388880482CHD8c.5230A>C (p.Thr1744Pro)
c.3767A>C
c.6067A>C (p.Thr2023Pro)
n.5223A>C
n.861A>C
14g.21393729C>ACA484995267CHD8c.5229G>T (p.Leu1743=)
c.3766G>T
c.6066G>T (p.Leu2022=)
n.5222G>T
n.860G>T
14g.21393729C=CA2122484094CHD8c.5229G= (p.Leu1743=)
c.3766G=
c.6066G= (p.Leu2022=)
n.5222G=
n.860G=
14g.21393729C>GCA7090843CHD8c.5229G>C (p.Leu1743=)
c.3766G>C
c.6066G>C (p.Leu2022=)
n.5222G>C
n.860G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21393729C>TCA484995264CHD8c.5229G>A (p.Leu1743=)
c.3766G>A
c.6066G>A (p.Leu2022=)
n.5222G>A
n.860G>A
14g.21393730A>CCA388880485CHD8c.5228T>G (p.Leu1743Arg)
c.3765T>G
c.6065T>G (p.Leu2022Arg)
n.5221T>G
n.859T>G
 gnomAD v4
14g.21393730A>GCA388880483CHD8c.5228T>C (p.Leu1743Pro)
c.3765T>C
c.6065T>C (p.Leu2022Pro)
n.5221T>C
n.859T>C
14g.21393730A>TCA388880484CHD8c.5228T>A (p.Leu1743Gln)
c.3765T>A
c.6065T>A (p.Leu2022Gln)
n.5221T>A
n.859T>A

Number of alleles fetched