Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.191375287G>ACA355764247CCDC50c.674G>A (p.Arg225Lys)
c.449-4872G>A (n.449-4872G>A)
gnomAD v4
3g.191375287G>CCA355764246CCDC50c.674G>C (p.Arg225Thr)
c.449-4872G>C (n.449-4872G>C)
3g.191375287G>TCA355764245CCDC50c.674G>T (p.Arg225Met)
c.449-4872G>T (n.449-4872G>T)
3g.191375288G>ACA437637584CCDC50c.675G>A (p.Arg225=)
c.449-4871G>A (n.449-4871G>A)
COSMIC
3g.191375288G>CCA355764248CCDC50c.675G>C (p.Arg225Ser)
c.449-4871G>C (n.449-4871G>C)
3g.191375288G>TCA355764249CCDC50c.675G>T (p.Arg225Ser)
c.449-4871G>T (n.449-4871G>T)
3g.191375289A>CCA355764250CCDC50c.676A>C (p.Lys226Gln)
c.449-4870A>C (n.449-4870A>C)
3g.191375289A>GCA355764251CCDC50c.676A>G (p.Lys226Glu)
c.449-4870A>G (n.449-4870A>G)
3g.191375289A>TCA355764252CCDC50c.676A>T (p.Lys226Ter)
c.449-4870A>T (n.449-4870A>T)
3g.191375290A>CCA355764253CCDC50c.677A>C (p.Lys226Thr)
c.449-4869A>C (n.449-4869A>C)
3g.191375290A>GCA355764254CCDC50c.677A>G (p.Lys226Arg)
c.449-4869A>G (n.449-4869A>G)
3g.191375290A>TCA355764255CCDC50c.677A>T (p.Lys226Ile)
c.449-4869A>T (n.449-4869A>T)
3g.191375291A=CA1429222216CCDC50c.678A= (p.Lys226=)
c.449-4868A= (n.449-4868A=)
3g.191375291A>CCA355764256CCDC50c.678A>C (p.Lys226Asn)
c.449-4868A>C (n.449-4868A>C)
3g.191375291A>GCA142719CCDC50c.678A>G (p.Lys226=)
c.449-4868A>G (n.449-4868A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375291A>TCA355764257CCDC50c.678A>T (p.Lys226Asn)
c.449-4868A>T (n.449-4868A>T)
3g.191375291_191375292delinsGTCA2580070580CCDC50c.678_679delinsGT (p.Arg227Trp)
c.449-4868_449-4867delinsGT (n.449-4868_449-4867delinsGT)
ClinVar
3g.191375292C>ACA437637586CCDC50c.679C>A (p.Arg227=)
c.449-4867C>A (n.449-4867C>A)
3g.191375292C=CA1429222217CCDC50c.679C= (p.Arg227=)
c.449-4867C= (n.449-4867C=)
3g.191375292C>GCA355764258CCDC50c.679C>G (p.Arg227Gly)
c.449-4867C>G (n.449-4867C>G)
3g.191375292C>TCA89778671CCDC50c.679C>T (p.Arg227Trp)
c.449-4867C>T (n.449-4867C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.191375293G>ACA2755306CCDC50c.680G>A (p.Arg227Gln)
c.449-4866G>A (n.449-4866G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375293G>CCA355764259CCDC50c.680G>C (p.Arg227Pro)
c.449-4866G>C (n.449-4866G>C)
3g.191375293G=CA1429222218CCDC50c.680G= (p.Arg227=)
c.449-4866G= (n.449-4866G=)
3g.191375293G>TCA2755305CCDC50c.680G>T (p.Arg227Leu)
c.449-4866G>T (n.449-4866G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.191375294G>ACA437637588CCDC50c.681G>A (p.Arg227=)
c.449-4865G>A (n.449-4865G>A)
dbSNP
3g.191375294G>CCA437637589CCDC50c.681G>C (p.Arg227=)
c.449-4865G>C (n.449-4865G>C)
gnomAD v4
3g.191375294G=CA1429222219CCDC50c.681G= (p.Arg227=)
c.449-4865G= (n.449-4865G=)
3g.191375294G>TCA437637590CCDC50c.681G>T (p.Arg227=)
c.449-4865G>T (n.449-4865G>T)
3g.191375295T>ACA355764260CCDC50c.682T>A (p.Ser228Thr)
c.449-4864T>A (n.449-4864T>A)
3g.191375295T>CCA355764261CCDC50c.682T>C (p.Ser228Pro)
c.449-4864T>C (n.449-4864T>C)
3g.191375295T>GCA355764262CCDC50c.682T>G (p.Ser228Ala)
c.449-4864T>G (n.449-4864T>G)
3g.191375296C>ACA355764263CCDC50c.683C>A (p.Ser228Tyr)
c.449-4863C>A (n.449-4863C>A)
COSMIC
3g.191375296C>GCA355764264CCDC50c.683C>G (p.Ser228Cys)
c.449-4863C>G (n.449-4863C>G)
3g.191375296C>TCA355764265CCDC50c.683C>T (p.Ser228Phe)
c.449-4863C>T (n.449-4863C>T)
dbSNP
3g.191375297C>ACA437637591CCDC50c.684C>A (p.Ser228=)
c.449-4862C>A (n.449-4862C>A)
dbSNP gnomAD v3 gnomAD v4
3g.191375297C=CA1429222220CCDC50c.684C= (p.Ser228=)
c.449-4862C= (n.449-4862C=)
3g.191375297C>GCA437637592CCDC50c.684C>G (p.Ser228=)
c.449-4862C>G (n.449-4862C>G)
gnomAD v4
3g.191375297C>TCA437637593CCDC50c.684C>T (p.Ser228=)
c.449-4862C>T (n.449-4862C>T)
dbSNP
3g.191375298A=CA1429222221CCDC50c.685A= (p.Thr229=)
c.449-4861A= (n.449-4861A=)
3g.191375298A>CCA355764268CCDC50c.685A>C (p.Thr229Pro)
c.449-4861A>C (n.449-4861A>C)
3g.191375298A>GCA355764266CCDC50c.685A>G (p.Thr229Ala)
c.449-4861A>G (n.449-4861A>G)
dbSNP gnomAD v2 gnomAD v4
3g.191375298A>TCA355764267CCDC50c.685A>T (p.Thr229Ser)
c.449-4861A>T (n.449-4861A>T)
3g.191375299C>ACA355764269CCDC50c.686C>A (p.Thr229Asn)
c.449-4860C>A (n.449-4860C>A)
dbSNP
3g.191375299C=CA1429222222CCDC50c.686C= (p.Thr229=)
c.449-4860C= (n.449-4860C=)
3g.191375299C>GCA355764270CCDC50c.686C>G (p.Thr229Ser)
c.449-4860C>G (n.449-4860C>G)
3g.191375299C>TCA355764271CCDC50c.686C>T (p.Thr229Ile)
c.449-4860C>T (n.449-4860C>T)
gnomAD v4
3g.191375300T>ACA437637594CCDC50c.687T>A (p.Thr229=)
c.449-4859T>A (n.449-4859T>A)
3g.191375300T>CCA437637595CCDC50c.687T>C (p.Thr229=)
c.449-4859T>C (n.449-4859T>C)
gnomAD v4
3g.191375300T>GCA437637596CCDC50c.687T>G (p.Thr229=)
c.449-4859T>G (n.449-4859T>G)
3g.191375301C>ACA355764272CCDC50c.688C>A (p.Gln230Lys)
c.449-4858C>A (n.449-4858C>A)
3g.191375301C>GCA355764273CCDC50c.688C>G (p.Gln230Glu)
c.449-4858C>G (n.449-4858C>G)
3g.191375301C>TCA355764274CCDC50c.688C>T (p.Gln230Ter)
c.449-4858C>T (n.449-4858C>T)
dbSNP
3g.191375302A=CA1429222223CCDC50c.689A= (p.Gln230=)
c.449-4857A= (n.449-4857A=)
3g.191375302A>CCA355764275CCDC50c.689A>C (p.Gln230Pro)
c.449-4857A>C (n.449-4857A>C)
3g.191375302A>GCA355764277CCDC50c.689A>G (p.Gln230Arg)
c.449-4857A>G (n.449-4857A>G)
dbSNP gnomAD v2 gnomAD v4
3g.191375302A>TCA355764276CCDC50c.689A>T (p.Gln230Leu)
c.449-4857A>T (n.449-4857A>T)
3g.191375303G>ACA437637598CCDC50c.690G>A (p.Gln230=)
c.449-4856G>A (n.449-4856G>A)
3g.191375303G>CCA355764278CCDC50c.690G>C (p.Gln230His)
c.449-4856G>C (n.449-4856G>C)
3g.191375303G=CA1429222224CCDC50c.690G= (p.Gln230=)
c.449-4856G= (n.449-4856G=)
3g.191375303G>TCA355764279CCDC50c.690G>T (p.Gln230His)
c.449-4856G>T (n.449-4856G>T)
dbSNP gnomAD v2
3g.191375304G>ACA355764280CCDC50c.691G>A (p.Glu231Lys)
c.449-4855G>A (n.449-4855G>A)
dbSNP gnomAD v4
3g.191375304G>CCA2755307CCDC50c.691G>C (p.Glu231Gln)
c.449-4855G>C (n.449-4855G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.191375304G=CA1429222225CCDC50c.691G= (p.Glu231=)
c.449-4855G= (n.449-4855G=)
3g.191375304G>TCA355764281CCDC50c.691G>T (p.Glu231Ter)
c.449-4855G>T (n.449-4855G>T)
3g.191375305A>CCA355764282CCDC50c.692A>C (p.Glu231Ala)
c.449-4854A>C (n.449-4854A>C)
3g.191375305A>GCA355764283CCDC50c.692A>G (p.Glu231Gly)
c.449-4854A>G (n.449-4854A>G)
3g.191375305A>TCA355764284CCDC50c.692A>T (p.Glu231Val)
c.449-4854A>T (n.449-4854A>T)
3g.191375306G>ACA437637602CCDC50c.693G>A (p.Glu231=)
c.449-4853G>A (n.449-4853G>A)
3g.191375306G>CCA355764285CCDC50c.693G>C (p.Glu231Asp)
c.449-4853G>C (n.449-4853G>C)
3g.191375306G>TCA355764286CCDC50c.693G>T (p.Glu231Asp)
c.449-4853G>T (n.449-4853G>T)
3g.191375307A>CCA437637603CCDC50c.694A>C (p.Arg232=)
c.449-4852A>C (n.449-4852A>C)
3g.191375307A>GCA355764287CCDC50c.694A>G (p.Arg232Gly)
c.449-4852A>G (n.449-4852A>G)
gnomAD v4
3g.191375307A>TCA355764288CCDC50c.694A>T (p.Arg232Trp)
c.449-4852A>T (n.449-4852A>T)
3g.191375308G>ACA355764291CCDC50c.695G>A (p.Arg232Lys)
c.449-4851G>A (n.449-4851G>A)
3g.191375308G>CCA355764289CCDC50c.695G>C (p.Arg232Thr)
c.449-4851G>C (n.449-4851G>C)
3g.191375308G>TCA355764290CCDC50c.695G>T (p.Arg232Met)
c.449-4851G>T (n.449-4851G>T)
3g.191375309G>ACA437637609CCDC50c.696G>A (p.Arg232=)
c.449-4850G>A (n.449-4850G>A)
3g.191375309G>CCA355764292CCDC50c.696G>C (p.Arg232Ser)
c.449-4850G>C (n.449-4850G>C)
3g.191375309G>TCA355764293CCDC50c.696G>T (p.Arg232Ser)
c.449-4850G>T (n.449-4850G>T)
3g.191375310C>ACA355764294CCDC50c.697C>A (p.Pro233Thr)
c.449-4849C>A (n.449-4849C>A)
gnomAD v4
3g.191375310C=CA1429222226CCDC50c.697C= (p.Pro233=)
c.449-4849C= (n.449-4849C=)
3g.191375310C>GCA2755308CCDC50c.697C>G (p.Pro233Ala)
c.449-4849C>G (n.449-4849C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375310C>TCA355764295CCDC50c.697C>T (p.Pro233Ser)
c.449-4849C>T (n.449-4849C>T)
gnomAD v4
3g.191375311C>ACA2755309CCDC50c.698C>A (p.Pro233His)
c.449-4848C>A (n.449-4848C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375311C=CA1429222227CCDC50c.698C= (p.Pro233=)
c.449-4848C= (n.449-4848C=)
3g.191375311C>GCA355764296CCDC50c.698C>G (p.Pro233Arg)
c.449-4848C>G (n.449-4848C>G)
3g.191375311C>TCA355764297CCDC50c.698C>T (p.Pro233Leu)
c.449-4848C>T (n.449-4848C>T)
ClinVar dbSNP gnomAD v2
3g.191375312T>ACA437637614CCDC50c.699T>A (p.Pro233=)
c.449-4847T>A (n.449-4847T>A)
3g.191375312T>CCA437637617CCDC50c.699T>C (p.Pro233=)
c.449-4847T>C (n.449-4847T>C)
gnomAD v4
3g.191375312T>GCA437637615CCDC50c.699T>G (p.Pro233=)
c.449-4847T>G (n.449-4847T>G)
3g.191375313C>ACA437637618CCDC50c.700C>A (p.Arg234=)
c.449-4846C>A (n.449-4846C>A)
3g.191375313C=CA1429222228CCDC50c.700C= (p.Arg234=)
c.449-4846C= (n.449-4846C=)
3g.191375313C>GCA355764298CCDC50c.700C>G (p.Arg234Gly)
c.449-4846C>G (n.449-4846C>G)
3g.191375313C>TCA2755310CCDC50c.700C>T (p.Arg234Trp)
c.449-4846C>T (n.449-4846C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.191375314G>ACA2755311CCDC50c.701G>A (p.Arg234Gln)
c.449-4845G>A (n.449-4845G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375314G>CCA355764299CCDC50c.701G>C (p.Arg234Pro)
c.449-4845G>C (n.449-4845G>C)
dbSNP
3g.191375314G=CA1429222229CCDC50c.701G= (p.Arg234=)
c.449-4845G= (n.449-4845G=)
3g.191375314G>TCA355764300CCDC50c.701G>T (p.Arg234Leu)
c.449-4845G>T (n.449-4845G>T)
3g.191375315G>ACA437637620CCDC50c.702G>A (p.Arg234=)
c.449-4844G>A (n.449-4844G>A)
dbSNP
3g.191375315G>CCA437637621CCDC50c.702G>C (p.Arg234=)
c.449-4844G>C (n.449-4844G>C)
3g.191375315G=CA1429222230CCDC50c.702G= (p.Arg234=)
c.449-4844G= (n.449-4844G=)
3g.191375315G>TCA437637622CCDC50c.702G>T (p.Arg234=)
c.449-4844G>T (n.449-4844G>T)
3g.191375316A>CCA437637623CCDC50c.703A>C (p.Arg235=)
c.449-4843A>C (n.449-4843A>C)
3g.191375316A>GCA355764301CCDC50c.703A>G (p.Arg235Gly)
c.449-4843A>G (n.449-4843A>G)
3g.191375316A>TCA355764302CCDC50c.703A>T (p.Arg235Ter)
c.449-4843A>T (n.449-4843A>T)
gnomAD v4
3g.191375317G>ACA355764305CCDC50c.704G>A (p.Arg235Lys)
c.449-4842G>A (n.449-4842G>A)
3g.191375317G>CCA355764303CCDC50c.704G>C (p.Arg235Thr)
c.449-4842G>C (n.449-4842G>C)
3g.191375317G>TCA355764304CCDC50c.704G>T (p.Arg235Ile)
c.449-4842G>T (n.449-4842G>T)
3g.191375318A>CCA355764306CCDC50c.705A>C (p.Arg235Ser)
c.449-4841A>C (n.449-4841A>C)
3g.191375318A>GCA437637630CCDC50c.705A>G (p.Arg235=)
c.449-4841A>G (n.449-4841A>G)
3g.191375318A>TCA355764307CCDC50c.705A>T (p.Arg235Ser)
c.449-4841A>T (n.449-4841A>T)
3g.191375319C>ACA355764308CCDC50c.706C>A (p.Pro236Thr)
c.449-4840C>A (n.449-4840C>A)
3g.191375319C>GCA355764309CCDC50c.706C>G (p.Pro236Ala)
c.449-4840C>G (n.449-4840C>G)
3g.191375319C>TCA355764310CCDC50c.706C>T (p.Pro236Ser)
c.449-4840C>T (n.449-4840C>T)
3g.191375320C>ACA355764311CCDC50c.707C>A (p.Pro236His)
c.449-4839C>A (n.449-4839C>A)
3g.191375320C=CA1429222231CCDC50c.707C= (p.Pro236=)
c.449-4839C= (n.449-4839C=)
3g.191375320C>GCA355764312CCDC50c.707C>G (p.Pro236Arg)
c.449-4839C>G (n.449-4839C>G)
3g.191375320C>TCA2755312CCDC50c.707C>T (p.Pro236Leu)
c.449-4839C>T (n.449-4839C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.191375321T>ACA437637635CCDC50c.708T>A (p.Pro236=)
c.449-4838T>A (n.449-4838T>A)
3g.191375321T>CCA437637636CCDC50c.708T>C (p.Pro236=)
c.449-4838T>C (n.449-4838T>C)
3g.191375321T>GCA437637637CCDC50c.708T>G (p.Pro236=)
c.449-4838T>G (n.449-4838T>G)
3g.191375322C>ACA355764313CCDC50c.709C>A (p.Leu237Met)
c.449-4837C>A (n.449-4837C>A)
3g.191375322C>GCA355764314CCDC50c.709C>G (p.Leu237Val)
c.449-4837C>G (n.449-4837C>G)
dbSNP
3g.191375322C>TCA437637640CCDC50c.709C>T (p.Leu237=)
c.449-4837C>T (n.449-4837C>T)
COSMIC
3g.191375323T>ACA355764315CCDC50c.710T>A (p.Leu237Gln)
c.449-4836T>A (n.449-4836T>A)
3g.191375323T>CCA355764316CCDC50c.710T>C (p.Leu237Pro)
c.449-4836T>C (n.449-4836T>C)
3g.191375323T>GCA355764317CCDC50c.710T>G (p.Leu237Arg)
c.449-4836T>G (n.449-4836T>G)
3g.191375324G>ACA437637642CCDC50c.711G>A (p.Leu237=)
c.449-4835G>A (n.449-4835G>A)
3g.191375324G>CCA437637644CCDC50c.711G>C (p.Leu237=)
c.449-4835G>C (n.449-4835G>C)
dbSNP gnomAD v3 gnomAD v4
3g.191375324G=CA1429222232CCDC50c.711G= (p.Leu237=)
c.449-4835G= (n.449-4835G=)
3g.191375324G>TCA437637643CCDC50c.711G>T (p.Leu237=)
c.449-4835G>T (n.449-4835G>T)
3g.191375325C>ACA355764320CCDC50c.712C>A (p.Leu238Ile)
c.449-4834C>A (n.449-4834C>A)
3g.191375325C=CA1429222233CCDC50c.712C= (p.Leu238=)
c.449-4834C= (n.449-4834C=)
3g.191375325C>GCA355764318CCDC50c.712C>G (p.Leu238Val)
c.449-4834C>G (n.449-4834C>G)
gnomAD v4
3g.191375325C>TCA355764319CCDC50c.712C>T (p.Leu238Phe)
c.449-4834C>T (n.449-4834C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.191375326T>ACA355764321CCDC50c.713T>A (p.Leu238His)
c.449-4833T>A (n.449-4833T>A)
3g.191375326T>CCA355764323CCDC50c.713T>C (p.Leu238Pro)
c.449-4833T>C (n.449-4833T>C)
dbSNP
3g.191375326T>GCA355764322CCDC50c.713T>G (p.Leu238Arg)
c.449-4833T>G (n.449-4833T>G)
3g.191375326T=CA1429222234CCDC50c.713T= (p.Leu238=)
c.449-4833T= (n.449-4833T=)
3g.191375327T>ACA437637647CCDC50c.714T>A (p.Leu238=)
c.449-4832T>A (n.449-4832T>A)
3g.191375327T>CCA437637648CCDC50c.714T>C (p.Leu238=)
c.449-4832T>C (n.449-4832T>C)
3g.191375327T>GCA437637649CCDC50c.714T>G (p.Leu238=)
c.449-4832T>G (n.449-4832T>G)
3g.191375328C>ACA355764324CCDC50c.715C>A (p.Pro239Thr)
c.449-4831C>A (n.449-4831C>A)
3g.191375328C>GCA355764325CCDC50c.715C>G (p.Pro239Ala)
c.449-4831C>G (n.449-4831C>G)
3g.191375328C>TCA355764326CCDC50c.715C>T (p.Pro239Ser)
c.449-4831C>T (n.449-4831C>T)
3g.191375329C>ACA355764327CCDC50c.716C>A (p.Pro239His)
c.449-4830C>A (n.449-4830C>A)
3g.191375329C>GCA355764328CCDC50c.716C>G (p.Pro239Arg)
c.449-4830C>G (n.449-4830C>G)
3g.191375329C>TCA355764329CCDC50c.716C>T (p.Pro239Leu)
c.449-4830C>T (n.449-4830C>T)
3g.191375330C>ACA437637653CCDC50c.717C>A (p.Pro239=)
c.449-4829C>A (n.449-4829C>A)
3g.191375330C=CA1429222235CCDC50c.717C= (p.Pro239=)
c.449-4829C= (n.449-4829C=)
3g.191375330C>GCA89778677CCDC50c.717C>G (p.Pro239=)
c.449-4829C>G (n.449-4829C>G)
dbSNP gnomAD v3 gnomAD v4
3g.191375330C>TCA437637654CCDC50c.717C>T (p.Pro239=)
c.449-4829C>T (n.449-4829C>T)
3g.191375331A=CA1429222236CCDC50c.718A= (p.Thr240=)
c.449-4828A= (n.449-4828A=)
3g.191375331A>CCA355764330CCDC50c.718A>C (p.Thr240Pro)
c.449-4828A>C (n.449-4828A>C)
3g.191375331A>GCA2755313CCDC50c.718A>G (p.Thr240Ala)
c.449-4828A>G (n.449-4828A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.191375331A>TCA355764331CCDC50c.718A>T (p.Thr240Ser)
c.449-4828A>T (n.449-4828A>T)
3g.191375332C>ACA355764332CCDC50c.719C>A (p.Thr240Lys)
c.449-4827C>A (n.449-4827C>A)
3g.191375332C=CA1429222237CCDC50c.719C= (p.Thr240=)
c.449-4827C= (n.449-4827C=)
3g.191375332C>GCA355764333CCDC50c.719C>G (p.Thr240Arg)
c.449-4827C>G (n.449-4827C>G)
3g.191375332C>TCA2755314CCDC50c.719C>T (p.Thr240Met)
c.449-4827C>T (n.449-4827C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375333G>ACA437637658CCDC50c.720G>A (p.Thr240=)
c.449-4826G>A (n.449-4826G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.191375333G>CCA437637657CCDC50c.720G>C (p.Thr240=)
c.449-4826G>C (n.449-4826G>C)
gnomAD v4
3g.191375333G=CA1429222238CCDC50c.720G= (p.Thr240=)
c.449-4826G= (n.449-4826G=)
3g.191375333G>TCA2755315CCDC50c.720G>T (p.Thr240=)
c.449-4826G>T (n.449-4826G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.191375334A=CA1429222239CCDC50c.721A= (p.Ile241=)
c.449-4825A= (n.449-4825A=)
3g.191375334A>CCA355764334CCDC50c.721A>C (p.Ile241Leu)
c.449-4825A>C (n.449-4825A>C)
3g.191375334A>GCA355764335CCDC50c.721A>G (p.Ile241Val)
c.449-4825A>G (n.449-4825A>G)
dbSNP gnomAD v3 gnomAD v4
3g.191375334A>TCA355764336CCDC50c.721A>T (p.Ile241Phe)
c.449-4825A>T (n.449-4825A>T)
3g.191375335T>ACA355764337CCDC50c.722T>A (p.Ile241Asn)
c.449-4824T>A (n.449-4824T>A)
3g.191375335T>CCA355764338CCDC50c.722T>C (p.Ile241Thr)
c.449-4824T>C (n.449-4824T>C)
dbSNP gnomAD v4 COSMIC
3g.191375335T>GCA355764339CCDC50c.722T>G (p.Ile241Ser)
c.449-4824T>G (n.449-4824T>G)
3g.191375335T=CA1429222240CCDC50c.722T= (p.Ile241=)
c.449-4824T= (n.449-4824T=)
3g.191375336C>ACA437637661CCDC50c.723C>A (p.Ile241=)
c.449-4823C>A (n.449-4823C>A)
3g.191375336C>GCA355764340CCDC50c.723C>G (p.Ile241Met)
c.449-4823C>G (n.449-4823C>G)
3g.191375336C>TCA437637663CCDC50c.723C>T (p.Ile241=)
c.449-4823C>T (n.449-4823C>T)
COSMIC
3g.191375337A=CA1429222241CCDC50c.724A= (p.Ser242=)
c.449-4822A= (n.449-4822A=)
3g.191375337A>CCA355764341CCDC50c.724A>C (p.Ser242Arg)
c.449-4822A>C (n.449-4822A>C)
3g.191375337A>GCA89778680CCDC50c.724A>G (p.Ser242Gly)
c.449-4822A>G (n.449-4822A>G)
dbSNP gnomAD v2 gnomAD v4
3g.191375337A>TCA355764342CCDC50c.724A>T (p.Ser242Cys)
c.449-4822A>T (n.449-4822A>T)
3g.191375338G>ACA355764343CCDC50c.725G>A (p.Ser242Asn)
c.449-4821G>A (n.449-4821G>A)
dbSNP gnomAD v2 gnomAD v4
3g.191375338G>CCA355764344CCDC50c.725G>C (p.Ser242Thr)
c.449-4821G>C (n.449-4821G>C)
3g.191375338G=CA1429222242CCDC50c.725G= (p.Ser242=)
c.449-4821G= (n.449-4821G=)
3g.191375338G>TCA355764345CCDC50c.725G>T (p.Ser242Ile)
c.449-4821G>T (n.449-4821G>T)
3g.191375339T>ACA355764346CCDC50c.726T>A (p.Ser242Arg)
c.449-4820T>A (n.449-4820T>A)
3g.191375339T>CCA2755316CCDC50c.726T>C (p.Ser242=)
c.449-4820T>C (n.449-4820T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375339T>GCA355764347CCDC50c.726T>G (p.Ser242Arg)
c.449-4820T>G (n.449-4820T>G)
3g.191375339T=CA1429222243CCDC50c.726T= (p.Ser242=)
c.449-4820T= (n.449-4820T=)
3g.191375340G>ACA355764348CCDC50c.727G>A (p.Gly243Ser)
c.449-4819G>A (n.449-4819G>A)
3g.191375340G>CCA355764349CCDC50c.727G>C (p.Gly243Arg)
c.449-4819G>C (n.449-4819G>C)
3g.191375340G>TCA355764350CCDC50c.727G>T (p.Gly243Cys)
c.449-4819G>T (n.449-4819G>T)
3g.191375341G>ACA355764351CCDC50c.728G>A (p.Gly243Asp)
c.449-4818G>A (n.449-4818G>A)
3g.191375341G>CCA355764352CCDC50c.728G>C (p.Gly243Ala)
c.449-4818G>C (n.449-4818G>C)
3g.191375341G>TCA355764353CCDC50c.728G>T (p.Gly243Val)
c.449-4818G>T (n.449-4818G>T)
3g.191375342T>ACA437637670CCDC50c.729T>A (p.Gly243=)
c.449-4817T>A (n.449-4817T>A)
3g.191375342T>CCA437637671CCDC50c.729T>C (p.Gly243=)
c.449-4817T>C (n.449-4817T>C)
3g.191375342T>GCA437637672CCDC50c.729T>G (p.Gly243=)
c.449-4817T>G (n.449-4817T>G)
3g.191375343G>ACA355764356CCDC50c.730G>A (p.Glu244Lys)
c.449-4816G>A (n.449-4816G>A)
gnomAD v4
3g.191375343G>CCA355764354CCDC50c.730G>C (p.Glu244Gln)
c.449-4816G>C (n.449-4816G>C)
3g.191375343G>TCA355764355CCDC50c.730G>T (p.Glu244Ter)
c.449-4816G>T (n.449-4816G>T)
3g.191375344A>CCA355764357CCDC50c.731A>C (p.Glu244Ala)
c.449-4815A>C (n.449-4815A>C)
3g.191375344A>GCA355764358CCDC50c.731A>G (p.Glu244Gly)
c.449-4815A>G (n.449-4815A>G)
3g.191375344A>TCA355764359CCDC50c.731A>T (p.Glu244Val)
c.449-4815A>T (n.449-4815A>T)
3g.191375345A=CA1429222244CCDC50c.732A= (p.Glu244=)
c.449-4814A= (n.449-4814A=)
3g.191375345A>CCA355764360CCDC50c.732A>C (p.Glu244Asp)
c.449-4814A>C (n.449-4814A>C)
3g.191375345A>GCA437637677CCDC50c.732A>G (p.Glu244=)
c.449-4814A>G (n.449-4814A>G)
dbSNP gnomAD v4
3g.191375345A>TCA355764361CCDC50c.732A>T (p.Glu244Asp)
c.449-4814A>T (n.449-4814A>T)
3g.191375346G>ACA355764364CCDC50c.733G>A (p.Val245Met)
c.449-4813G>A (n.449-4813G>A)
3g.191375346G>CCA355764362CCDC50c.733G>C (p.Val245Leu)
c.449-4813G>C (n.449-4813G>C)
3g.191375346G>TCA355764363CCDC50c.733G>T (p.Val245Leu)
c.449-4813G>T (n.449-4813G>T)
3g.191375347T>ACA355764365CCDC50c.734T>A (p.Val245Glu)
c.449-4812T>A (n.449-4812T>A)
3g.191375347T>CCA355764366CCDC50c.734T>C (p.Val245Ala)
c.449-4812T>C (n.449-4812T>C)
gnomAD v4
3g.191375347T>GCA355764367CCDC50c.734T>G (p.Val245Gly)
c.449-4812T>G (n.449-4812T>G)
3g.191375348G>ACA437637682CCDC50c.735G>A (p.Val245=)
c.449-4811G>A (n.449-4811G>A)
ClinVar gnomAD v4
3g.191375348G>CCA437637683CCDC50c.735G>C (p.Val245=)
c.449-4811G>C (n.449-4811G>C)
dbSNP
3g.191375348G=CA1429222245CCDC50c.735G= (p.Val245=)
c.449-4811G= (n.449-4811G=)
3g.191375348G>TCA437637684CCDC50c.735G>T (p.Val245=)
c.449-4811G>T (n.449-4811G>T)
3g.191375349T>ACA355764368CCDC50c.736T>A (p.Phe246Ile)
c.449-4810T>A (n.449-4810T>A)
3g.191375349T>CCA355764369CCDC50c.736T>C (p.Phe246Leu)
c.449-4810T>C (n.449-4810T>C)
3g.191375349T>GCA355764370CCDC50c.736T>G (p.Phe246Val)
c.449-4810T>G (n.449-4810T>G)
3g.191375350T>ACA355764371CCDC50c.737T>A (p.Phe246Tyr)
c.449-4809T>A (n.449-4809T>A)
3g.191375350T>CCA355764372CCDC50c.737T>C (p.Phe246Ser)
c.449-4809T>C (n.449-4809T>C)
3g.191375350T>GCA355764373CCDC50c.737T>G (p.Phe246Cys)
c.449-4809T>G (n.449-4809T>G)
3g.191375351T>ACA355764374CCDC50c.738T>A (p.Phe246Leu)
c.449-4808T>A (n.449-4808T>A)
3g.191375351T>CCA437637689CCDC50c.738T>C (p.Phe246=)
c.449-4808T>C (n.449-4808T>C)
dbSNP gnomAD v4
3g.191375351T>GCA355764375CCDC50c.738T>G (p.Phe246Leu)
c.449-4808T>G (n.449-4808T>G)
3g.191375351T=CA1429222246CCDC50c.738T= (p.Phe246=)
c.449-4808T= (n.449-4808T=)
3g.191375352C>ACA355764376CCDC50c.739C>A (p.Leu247Met)
c.449-4807C>A (n.449-4807C>A)
3g.191375352C>GCA355764377CCDC50c.739C>G (p.Leu247Val)
c.449-4807C>G (n.449-4807C>G)
3g.191375352C>TCA437637692CCDC50c.739C>T (p.Leu247=)
c.449-4807C>T (n.449-4807C>T)
gnomAD v4
3g.191375353T>ACA355764378CCDC50c.740T>A (p.Leu247Gln)
c.449-4806T>A (n.449-4806T>A)
3g.191375353T>CCA355764380CCDC50c.740T>C (p.Leu247Pro)
c.449-4806T>C (n.449-4806T>C)
3g.191375353T>GCA355764379CCDC50c.740T>G (p.Leu247Arg)
c.449-4806T>G (n.449-4806T>G)
3g.191375354G>ACA2755317CCDC50c.741G>A (p.Leu247=)
c.449-4805G>A (n.449-4805G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.191375354G>CCA437637697CCDC50c.741G>C (p.Leu247=)
c.449-4805G>C (n.449-4805G>C)
3g.191375354G=CA1429222247CCDC50c.741G= (p.Leu247=)
c.449-4805G= (n.449-4805G=)
3g.191375354G>TCA437637695CCDC50c.741G>T (p.Leu247=)
c.449-4805G>T (n.449-4805G>T)
3g.191375355A=CA1429222248CCDC50c.742A= (p.Ser248=)
c.449-4804A= (n.449-4804A=)
3g.191375355A>CCA355764381CCDC50c.742A>C (p.Ser248Arg)
c.449-4804A>C (n.449-4804A>C)
dbSNP gnomAD v4
3g.191375355A>GCA355764382CCDC50c.742A>G (p.Ser248Gly)
c.449-4804A>G (n.449-4804A>G)
3g.191375355A>TCA355764383CCDC50c.742A>T (p.Ser248Cys)
c.449-4804A>T (n.449-4804A>T)
3g.191375356G>ACA355764384CCDC50c.743G>A (p.Ser248Asn)
c.449-4803G>A (n.449-4803G>A)
ClinVar dbSNP gnomAD v4
3g.191375356G>CCA355764385CCDC50c.743G>C (p.Ser248Thr)
c.449-4803G>C (n.449-4803G>C)
3g.191375356G=CA1429222249CCDC50c.743G= (p.Ser248=)
c.449-4803G= (n.449-4803G=)
3g.191375356G>TCA355764386CCDC50c.743G>T (p.Ser248Ile)
c.449-4803G>T (n.449-4803G>T)
3g.191375357C>ACA355764387CCDC50c.744C>A (p.Ser248Arg)
c.449-4802C>A (n.449-4802C>A)
3g.191375357C=CA1429222250CCDC50c.744C= (p.Ser248=)
c.449-4802C= (n.449-4802C=)
3g.191375357C>GCA355764388CCDC50c.744C>G (p.Ser248Arg)
c.449-4802C>G (n.449-4802C>G)
3g.191375357C>TCA2755318CCDC50c.744C>T (p.Ser248=)
c.449-4802C>T (n.449-4802C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.191375358A=CA1429222251CCDC50c.745A= (p.Thr249=)
c.449-4801A= (n.449-4801A=)
3g.191375358A>CCA355764389CCDC50c.745A>C (p.Thr249Pro)
c.449-4801A>C (n.449-4801A>C)
dbSNP
3g.191375358A>GCA2755319CCDC50c.745A>G (p.Thr249Ala)
c.449-4801A>G (n.449-4801A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375358A>TCA355764390CCDC50c.745A>T (p.Thr249Ser)
c.449-4801A>T (n.449-4801A>T)
3g.191375359C>ACA355764393CCDC50c.746C>A (p.Thr249Asn)
c.449-4800C>A (n.449-4800C>A)
3g.191375359C=CA1429222252CCDC50c.746C= (p.Thr249=)
c.449-4800C= (n.449-4800C=)
3g.191375359C>GCA355764391CCDC50c.746C>G (p.Thr249Ser)
c.449-4800C>G (n.449-4800C>G)
3g.191375359C>TCA355764392CCDC50c.746C>T (p.Thr249Ile)
c.449-4800C>T (n.449-4800C>T)
dbSNP gnomAD v2
3g.191375360T>ACA437637710CCDC50c.747T>A (p.Thr249=)
c.449-4799T>A (n.449-4799T>A)
3g.191375360T>CCA437637711CCDC50c.747T>C (p.Thr249=)
c.449-4799T>C (n.449-4799T>C)
3g.191375360T>GCA437637712CCDC50c.747T>G (p.Thr249=)
c.449-4799T>G (n.449-4799T>G)
3g.191375361G>ACA355764394CCDC50c.748G>A (p.Glu250Lys)
c.449-4798G>A (n.449-4798G>A)
gnomAD v4
3g.191375361G>CCA355764395CCDC50c.748G>C (p.Glu250Gln)
c.449-4798G>C (n.449-4798G>C)
ClinVar dbSNP gnomAD v4
3g.191375361G>TCA355764396CCDC50c.748G>T (p.Glu250Ter)
c.449-4798G>T (n.449-4798G>T)
3g.191375362A=CA1429222253CCDC50c.749A= (p.Glu250=)
c.449-4797A= (n.449-4797A=)
3g.191375362A>CCA355764397CCDC50c.749A>C (p.Glu250Ala)
c.449-4797A>C (n.449-4797A>C)
gnomAD v4
3g.191375362A>GCA175442CCDC50c.749A>G (p.Glu250Gly)
c.449-4797A>G (n.449-4797A>G)
ClinVar dbSNP
3g.191375362A>TCA355764398CCDC50c.749A>T (p.Glu250Val)
c.449-4797A>T (n.449-4797A>T)
3g.191375363A=CA1429222254CCDC50c.750A= (p.Glu250=)
c.449-4796A= (n.449-4796A=)
3g.191375363A>CCA355764399CCDC50c.750A>C (p.Glu250Asp)
c.449-4796A>C (n.449-4796A>C)
3g.191375363A>GCA437637718CCDC50c.750A>G (p.Glu250=)
c.449-4796A>G (n.449-4796A>G)
3g.191375363A>TCA2755320CCDC50c.750A>T (p.Glu250Asp)
c.449-4796A>T (n.449-4796A>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375364T>ACA355764400CCDC50c.751T>A (p.Cys251Ser)
c.449-4795T>A (n.449-4795T>A)
3g.191375364T>CCA355764401CCDC50c.751T>C (p.Cys251Arg)
c.449-4795T>C (n.449-4795T>C)
3g.191375364T>GCA355764402CCDC50c.751T>G (p.Cys251Gly)
c.449-4795T>G (n.449-4795T>G)
3g.191375365G>ACA2755321CCDC50c.752G>A (p.Cys251Tyr)
c.449-4794G>A (n.449-4794G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.191375365G>CCA355764403CCDC50c.752G>C (p.Cys251Ser)
c.449-4794G>C (n.449-4794G>C)
3g.191375365G=CA1429222255CCDC50c.752G= (p.Cys251=)
c.449-4794G= (n.449-4794G=)
3g.191375365G>TCA355764404CCDC50c.752G>T (p.Cys251Phe)
c.449-4794G>T (n.449-4794G>T)
3g.191375366T>ACA355764405CCDC50c.753T>A (p.Cys251Ter)
c.449-4793T>A (n.449-4793T>A)
3g.191375366T>CCA437637871CCDC50c.753T>C (p.Cys251=)
c.449-4793T>C (n.449-4793T>C)
gnomAD v4
3g.191375366T>GCA89778686CCDC50c.753T>G (p.Cys251Trp)
c.449-4793T>G (n.449-4793T>G)
ClinVar dbSNP gnomAD v4
3g.191375366T=CA1429222256CCDC50c.753T= (p.Cys251=)
c.449-4793T= (n.449-4793T=)
3g.191375367G>ACA355764406CCDC50c.754G>A (p.Asp252Asn)
c.449-4792G>A (n.449-4792G>A)
3g.191375367G>CCA2755322CCDC50c.754G>C (p.Asp252His)
c.449-4792G>C (n.449-4792G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.191375367G=CA1429222257CCDC50c.754G= (p.Asp252=)
c.449-4792G= (n.449-4792G=)
3g.191375367G>TCA355764407CCDC50c.754G>T (p.Asp252Tyr)
c.449-4792G>T (n.449-4792G>T)
3g.191375368A>CCA355764408CCDC50c.755A>C (p.Asp252Ala)
c.449-4791A>C (n.449-4791A>C)
3g.191375368A>GCA355764409CCDC50c.755A>G (p.Asp252Gly)
c.449-4791A>G (n.449-4791A>G)
gnomAD v4
3g.191375368A>TCA355764410CCDC50c.755A>T (p.Asp252Val)
c.449-4791A>T (n.449-4791A>T)
3g.191375369T>ACA355764411CCDC50c.756T>A (p.Asp252Glu)
c.449-4790T>A (n.449-4790T>A)
3g.191375369T>CCA437637882CCDC50c.756T>C (p.Asp252=)
c.449-4790T>C (n.449-4790T>C)
3g.191375369T>GCA355764412CCDC50c.756T>G (p.Asp252Glu)
c.449-4790T>G (n.449-4790T>G)
3g.191375370G>ACA355764413CCDC50c.757G>A (p.Asp253Asn)
c.449-4789G>A (n.449-4789G>A)
3g.191375370G>CCA355764414CCDC50c.757G>C (p.Asp253His)
c.449-4789G>C (n.449-4789G>C)
3g.191375370G>TCA355764415CCDC50c.757G>T (p.Asp253Tyr)
c.449-4789G>T (n.449-4789G>T)
3g.191375371delCA2759894814CCDC50c.758del (p.Asp253AlafsTer?)
c.449-4788del (n.449-4788del)
3g.191375371A>CCA355764416CCDC50c.758A>C (p.Asp253Ala)
c.449-4788A>C (n.449-4788A>C)
3g.191375371A>GCA355764417CCDC50c.758A>G (p.Asp253Gly)
c.449-4788A>G (n.449-4788A>G)
3g.191375371A>TCA355764418CCDC50c.758A>T (p.Asp253Val)
c.449-4788A>T (n.449-4788A>T)
3g.191375372C>ACA355764419CCDC50c.759C>A (p.Asp253Glu)
c.449-4787C>A (n.449-4787C>A)
ClinVar dbSNP
3g.191375372C=CA1429222258CCDC50c.759C= (p.Asp253=)
c.449-4787C= (n.449-4787C=)
3g.191375372C>GCA2755324CCDC50c.759C>G (p.Asp253Glu)
c.449-4787C>G (n.449-4787C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.191375372C>TCA2755323CCDC50c.759C>T (p.Asp253=)
c.449-4787C>T (n.449-4787C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375373T>ACA355764420CCDC50c.760T>A (p.Trp254Arg)
c.449-4786T>A (n.449-4786T>A)
3g.191375373T>CCA355764421CCDC50c.760T>C (p.Trp254Arg)
c.449-4786T>C (n.449-4786T>C)
3g.191375373T>GCA355764422CCDC50c.760T>G (p.Trp254Gly)
c.449-4786T>G (n.449-4786T>G)
3g.191375374G>ACA355764423CCDC50c.761G>A (p.Trp254Ter)
c.449-4785G>A (n.449-4785G>A)
dbSNP gnomAD v4
3g.191375374G>CCA355764424CCDC50c.761G>C (p.Trp254Ser)
c.449-4785G>C (n.449-4785G>C)
3g.191375374G=CA1429222259CCDC50c.761G= (p.Trp254=)
c.449-4785G= (n.449-4785G=)
3g.191375374G>TCA355764425CCDC50c.761G>T (p.Trp254Leu)
c.449-4785G>T (n.449-4785G>T)
3g.191375375G>ACA2755325CCDC50c.762G>A (p.Trp254Ter)
c.449-4784G>A (n.449-4784G>A)
dbSNP ExAC gnomAD v2
3g.191375375G>CCA355764426CCDC50c.762G>C (p.Trp254Cys)
c.449-4784G>C (n.449-4784G>C)
3g.191375375G=CA1429222260CCDC50c.762G= (p.Trp254=)
c.449-4784G= (n.449-4784G=)
3g.191375375G>TCA355764427CCDC50c.762G>T (p.Trp254Cys)
c.449-4784G>T (n.449-4784G>T)
3g.191375376G>ACA355764428CCDC50c.763G>A (p.Glu255Lys)
c.449-4783G>A (n.449-4783G>A)
dbSNP
3g.191375376G>CCA355764429CCDC50c.763G>C (p.Glu255Gln)
c.449-4783G>C (n.449-4783G>C)
3g.191375376G>TCA355764430CCDC50c.763G>T (p.Glu255Ter)
c.449-4783G>T (n.449-4783G>T)
gnomAD v4
3g.191375377A>CCA355764433CCDC50c.764A>C (p.Glu255Ala)
c.449-4782A>C (n.449-4782A>C)
3g.191375377A>GCA355764432CCDC50c.764A>G (p.Glu255Gly)
c.449-4782A>G (n.449-4782A>G)
COSMIC
3g.191375377A>TCA355764431CCDC50c.764A>T (p.Glu255Val)
c.449-4782A>T (n.449-4782A>T)
3g.191375378G>ACA437637923CCDC50c.765G>A (p.Glu255=)
c.449-4781G>A (n.449-4781G>A)
dbSNP gnomAD v2 gnomAD v4
3g.191375378G>CCA355764434CCDC50c.765G>C (p.Glu255Asp)
c.449-4781G>C (n.449-4781G>C)
3g.191375378G=CA1429222261CCDC50c.765G= (p.Glu255=)
c.449-4781G= (n.449-4781G=)
3g.191375378G>TCA89778691CCDC50c.765G>T (p.Glu255Asp)
c.449-4781G>T (n.449-4781G>T)
dbSNP gnomAD v3 gnomAD v4
3g.191375379A>CCA355764435CCDC50c.766A>C (p.Thr256Pro)
c.449-4780A>C (n.449-4780A>C)
3g.191375379A>GCA355764436CCDC50c.766A>G (p.Thr256Ala)
c.449-4780A>G (n.449-4780A>G)
3g.191375379A>TCA355764437CCDC50c.766A>T (p.Thr256Ser)
c.449-4780A>T (n.449-4780A>T)
3g.191375380C>ACA355764438CCDC50c.767C>A (p.Thr256Asn)
c.449-4779C>A (n.449-4779C>A)
3g.191375380C>GCA355764439CCDC50c.767C>G (p.Thr256Ser)
c.449-4779C>G (n.449-4779C>G)
3g.191375380C>TCA355764440CCDC50c.767C>T (p.Thr256Ile)
c.449-4779C>T (n.449-4779C>T)
3g.191375381T>ACA437637928CCDC50c.768T>A (p.Thr256=)
c.449-4778T>A (n.449-4778T>A)
3g.191375381T>CCA437637926CCDC50c.768T>C (p.Thr256=)
c.449-4778T>C (n.449-4778T>C)
3g.191375381T>GCA437637927CCDC50c.768T>G (p.Thr256=)
c.449-4778T>G (n.449-4778T>G)
3g.191375382A=CA1429222262CCDC50c.769A= (p.Lys257=)
c.449-4777A= (n.449-4777A=)
3g.191375382A>CCA355764441CCDC50c.769A>C (p.Lys257Gln)
c.449-4777A>C (n.449-4777A>C)
3g.191375382A>GCA355764442CCDC50c.769A>G (p.Lys257Glu)
c.449-4777A>G (n.449-4777A>G)
dbSNP gnomAD v2 gnomAD v4
3g.191375382A>TCA355764443CCDC50c.769A>T (p.Lys257Ter)
c.449-4777A>T (n.449-4777A>T)
3g.191375383A>CCA355764444CCDC50c.770A>C (p.Lys257Thr)
c.449-4776A>C (n.449-4776A>C)
3g.191375383A>GCA355764445CCDC50c.770A>G (p.Lys257Arg)
c.449-4776A>G (n.449-4776A>G)
3g.191375383A>TCA355764446CCDC50c.770A>T (p.Lys257Met)
c.449-4776A>T (n.449-4776A>T)
3g.191375384G>ACA437637933CCDC50c.771G>A (p.Lys257=)
c.449-4775G>A (n.449-4775G>A)
3g.191375384G>CCA355764447CCDC50c.771G>C (p.Lys257Asn)
c.449-4775G>C (n.449-4775G>C)
3g.191375384G>TCA355764448CCDC50c.771G>T (p.Lys257Asn)
c.449-4775G>T (n.449-4775G>T)
3g.191375385A=CA1429222263CCDC50c.772A= (p.Ile258=)
c.449-4774A= (n.449-4774A=)
3g.191375385A>CCA355764449CCDC50c.772A>C (p.Ile258Leu)
c.449-4774A>C (n.449-4774A>C)
3g.191375385A>GCA2755326CCDC50c.772A>G (p.Ile258Val)
c.449-4774A>G (n.449-4774A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.191375385A>TCA355764450CCDC50c.772A>T (p.Ile258Phe)
c.449-4774A>T (n.449-4774A>T)
gnomAD v4
3g.191375386T>ACA142721CCDC50c.773T>A (p.Ile258Asn)
c.449-4773T>A (n.449-4773T>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375386T>CCA355764451CCDC50c.773T>C (p.Ile258Thr)
c.449-4773T>C (n.449-4773T>C)
3g.191375386T>GCA2755327CCDC50c.773T>G (p.Ile258Ser)
c.449-4773T>G (n.449-4773T>G)
dbSNP ExAC gnomAD v2
3g.191375386T=CA1429222264CCDC50c.773T= (p.Ile258=)
c.449-4773T= (n.449-4773T=)
3g.191375387T>ACA437637942CCDC50c.774T>A (p.Ile258=)
c.449-4772T>A (n.449-4772T>A)
3g.191375387T>CCA437637943CCDC50c.774T>C (p.Ile258=)
c.449-4772T>C (n.449-4772T>C)
gnomAD v4
3g.191375387T>GCA355764452CCDC50c.774T>G (p.Ile258Met)
c.449-4772T>G (n.449-4772T>G)

Number of alleles fetched