Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.125468703G>ACA358128487FAT4c.12097G>A (p.Ala4033Thr)
c.6868G>A (p.Ala2290Thr)
c.6880G>A (p.Ala2294Thr)
c.12091G>A (p.Ala4031Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.125468703G>CCA358128490FAT4c.12097G>C (p.Ala4033Pro)
c.6868G>C (p.Ala2290Pro)
c.6880G>C (p.Ala2294Pro)
c.12091G>C (p.Ala4031Pro)
4g.125468703G=CA1491662365FAT4c.12097G= (p.Ala4033=)
c.6868G= (p.Ala2290=)
c.6880G= (p.Ala2294=)
c.12091G= (p.Ala4031=)
4g.125468703G>TCA358128492FAT4c.12097G>T (p.Ala4033Ser)
c.6868G>T (p.Ala2290Ser)
c.6880G>T (p.Ala2294Ser)
c.12091G>T (p.Ala4031Ser)
4g.125468704C>ACA358128495FAT4c.12098C>A (p.Ala4033Asp)
c.6869C>A (p.Ala2290Asp)
c.6881C>A (p.Ala2294Asp)
c.12092C>A (p.Ala4031Asp)
4g.125468704C>GCA358128496FAT4c.12098C>G (p.Ala4033Gly)
c.6869C>G (p.Ala2290Gly)
c.6881C>G (p.Ala2294Gly)
c.12092C>G (p.Ala4031Gly)
4g.125468704C>TCA358128500FAT4c.12098C>T (p.Ala4033Val)
c.6869C>T (p.Ala2290Val)
c.6881C>T (p.Ala2294Val)
c.12092C>T (p.Ala4031Val)
COSMIC COSMIC
4g.125468705C>ACA104860407FAT4c.12099C>A (p.Ala4033=)
c.6870C>A (p.Ala2290=)
c.6882C>A (p.Ala2294=)
c.12093C>A (p.Ala4031=)
ClinVar dbSNP
4g.125468705C=CA1491662366FAT4c.12099C= (p.Ala4033=)
c.6870C= (p.Ala2290=)
c.6882C= (p.Ala2294=)
c.12093C= (p.Ala4031=)
4g.125468705C>GCA441372992FAT4c.12099C>G (p.Ala4033=)
c.6870C>G (p.Ala2290=)
c.6882C>G (p.Ala2294=)
c.12093C>G (p.Ala4031=)
4g.125468705C>TCA3074010FAT4c.12099C>T (p.Ala4033=)
c.6870C>T (p.Ala2290=)
c.6882C>T (p.Ala2294=)
c.12093C>T (p.Ala4031=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.125468706G>ACA358128505FAT4c.12100G>A (p.Glu4034Lys)
c.6871G>A (p.Glu2291Lys)
c.6883G>A (p.Glu2295Lys)
c.12094G>A (p.Glu4032Lys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.125468706G>CCA358128506FAT4c.12100G>C (p.Glu4034Gln)
c.6871G>C (p.Glu2291Gln)
c.6883G>C (p.Glu2295Gln)
c.12094G>C (p.Glu4032Gln)
4g.125468706G=CA1491662367FAT4c.12100G= (p.Glu4034=)
c.6871G= (p.Glu2291=)
c.6883G= (p.Glu2295=)
c.12094G= (p.Glu4032=)
4g.125468706G>TCA358128510FAT4c.12100G>T (p.Glu4034Ter)
c.6871G>T (p.Glu2291Ter)
c.6883G>T (p.Glu2295Ter)
c.12094G>T (p.Glu4032Ter)
4g.125468707A>CCA358128512FAT4c.12101A>C (p.Glu4034Ala)
c.6872A>C (p.Glu2291Ala)
c.6884A>C (p.Glu2295Ala)
c.12095A>C (p.Glu4032Ala)
4g.125468707A>GCA358128517FAT4c.12101A>G (p.Glu4034Gly)
c.6872A>G (p.Glu2291Gly)
c.6884A>G (p.Glu2295Gly)
c.12095A>G (p.Glu4032Gly)
4g.125468707A>TCA358128515FAT4c.12101A>T (p.Glu4034Val)
c.6872A>T (p.Glu2291Val)
c.6884A>T (p.Glu2295Val)
c.12095A>T (p.Glu4032Val)
4g.125468711_125468714delCA2672011535FAT4c.12105_12108del (p.Glu4035AspfsTer2)
c.6876_6879del (p.Glu2292AspfsTer2)
c.6888_6891del (p.Glu2296AspfsTer2)
c.12099_12102del (p.Glu4033AspfsTer2)
gnomAD v4
4g.125468708A>CCA358128520FAT4c.12102A>C (p.Glu4034Asp)
c.6873A>C (p.Glu2291Asp)
c.6885A>C (p.Glu2295Asp)
c.12096A>C (p.Glu4032Asp)
4g.125468708A>GCA441372993FAT4c.12102A>G (p.Glu4034=)
c.6873A>G (p.Glu2291=)
c.6885A>G (p.Glu2295=)
c.12096A>G (p.Glu4032=)
4g.125468708A>TCA358128521FAT4c.12102A>T (p.Glu4034Asp)
c.6873A>T (p.Glu2291Asp)
c.6885A>T (p.Glu2295Asp)
c.12096A>T (p.Glu4032Asp)
4g.125468709G>ACA358128525FAT4c.12103G>A (p.Glu4035Lys)
c.6874G>A (p.Glu2292Lys)
c.6886G>A (p.Glu2296Lys)
c.12097G>A (p.Glu4033Lys)
4g.125468709G>CCA358128532FAT4c.12103G>C (p.Glu4035Gln)
c.6874G>C (p.Glu2292Gln)
c.6886G>C (p.Glu2296Gln)
c.12097G>C (p.Glu4033Gln)
gnomAD v4
4g.125468709G>TCA358128530FAT4c.12103G>T (p.Glu4035Ter)
c.6874G>T (p.Glu2292Ter)
c.6886G>T (p.Glu2296Ter)
c.12097G>T (p.Glu4033Ter)
COSMIC COSMIC
4g.125468710A>CCA358128534FAT4c.12104A>C (p.Glu4035Ala)
c.6875A>C (p.Glu2292Ala)
c.6887A>C (p.Glu2296Ala)
c.12098A>C (p.Glu4033Ala)
4g.125468710A>GCA358128535FAT4c.12104A>G (p.Glu4035Gly)
c.6875A>G (p.Glu2292Gly)
c.6887A>G (p.Glu2296Gly)
c.12098A>G (p.Glu4033Gly)
4g.125468710A>TCA358128538FAT4c.12104A>T (p.Glu4035Val)
c.6875A>T (p.Glu2292Val)
c.6887A>T (p.Glu2296Val)
c.12098A>T (p.Glu4033Val)
4g.125468711A>CCA358128542FAT4c.12105A>C (p.Glu4035Asp)
c.6876A>C (p.Glu2292Asp)
c.6888A>C (p.Glu2296Asp)
c.12099A>C (p.Glu4033Asp)
4g.125468711A>GCA441372994FAT4c.12105A>G (p.Glu4035=)
c.6876A>G (p.Glu2292=)
c.6888A>G (p.Glu2296=)
c.12099A>G (p.Glu4033=)
4g.125468711A>TCA358128543FAT4c.12105A>T (p.Glu4035Asp)
c.6876A>T (p.Glu2292Asp)
c.6888A>T (p.Glu2296Asp)
c.12099A>T (p.Glu4033Asp)
4g.125468712A=CA1491662368FAT4c.12106A= (p.Arg4036=)
c.6877A= (p.Arg2293=)
c.6889A= (p.Arg2297=)
c.12100A= (p.Arg4034=)
4g.125468712A>CCA441372995FAT4c.12106A>C (p.Arg4036=)
c.6877A>C (p.Arg2293=)
c.6889A>C (p.Arg2297=)
c.12100A>C (p.Arg4034=)
4g.125468712A>GCA358128549FAT4c.12106A>G (p.Arg4036Gly)
c.6877A>G (p.Arg2293Gly)
c.6889A>G (p.Arg2297Gly)
c.12100A>G (p.Arg4034Gly)
dbSNP gnomAD v4
4g.125468712A>TCA358128550FAT4c.12106A>T (p.Arg4036Ter)
c.6877A>T (p.Arg2293Ter)
c.6889A>T (p.Arg2297Ter)
c.12100A>T (p.Arg4034Ter)
4g.125468713G>ACA358128553FAT4c.12107G>A (p.Arg4036Lys)
c.6878G>A (p.Arg2293Lys)
c.6890G>A (p.Arg2297Lys)
c.12101G>A (p.Arg4034Lys)
4g.125468713G>CCA104860416FAT4c.12107G>C (p.Arg4036Thr)
c.6878G>C (p.Arg2293Thr)
c.6890G>C (p.Arg2297Thr)
c.12101G>C (p.Arg4034Thr)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.125468713G=CA1491662369FAT4c.12107G= (p.Arg4036=)
c.6878G= (p.Arg2293=)
c.6890G= (p.Arg2297=)
c.12101G= (p.Arg4034=)
4g.125468713G>TCA358128558FAT4c.12107G>T (p.Arg4036Ile)
c.6878G>T (p.Arg2293Ile)
c.6890G>T (p.Arg2297Ile)
c.12101G>T (p.Arg4034Ile)
4g.125468714A=CA1491662370FAT4c.12108A= (p.Arg4036=)
c.6879A= (p.Arg2293=)
c.6891A= (p.Arg2297=)
c.12102A= (p.Arg4034=)
4g.125468714A>CCA358128561FAT4c.12108A>C (p.Arg4036Ser)
c.6879A>C (p.Arg2293Ser)
c.6891A>C (p.Arg2297Ser)
c.12102A>C (p.Arg4034Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125468714A>GCA3074011FAT4c.12108A>G (p.Arg4036=)
c.6879A>G (p.Arg2293=)
c.6891A>G (p.Arg2297=)
c.12102A>G (p.Arg4034=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125468714A>TCA358128566FAT4c.12108A>T (p.Arg4036Ser)
c.6879A>T (p.Arg2293Ser)
c.6891A>T (p.Arg2297Ser)
c.12102A>T (p.Arg4034Ser)
4g.125468715C>ACA358128571FAT4c.12109C>A (p.Leu4037Ile)
c.6880C>A (p.Leu2294Ile)
c.6892C>A (p.Leu2298Ile)
c.12103C>A (p.Leu4035Ile)
4g.125468715C=CA1491662371FAT4c.12109C= (p.Leu4037=)
c.6880C= (p.Leu2294=)
c.6892C= (p.Leu2298=)
c.12103C= (p.Leu4035=)
4g.125468715C>GCA358128573FAT4c.12109C>G (p.Leu4037Val)
c.6880C>G (p.Leu2294Val)
c.6892C>G (p.Leu2298Val)
c.12103C>G (p.Leu4035Val)
COSMIC COSMIC COSMIC
4g.125468715C>TCA441372996FAT4c.12109C>T (p.Leu4037=)
c.6880C>T (p.Leu2294=)
c.6892C>T (p.Leu2298=)
c.12103C>T (p.Leu4035=)
dbSNP gnomAD v2 gnomAD v4
4g.125468716T>ACA358128576FAT4c.12110T>A (p.Leu4037Gln)
c.6881T>A (p.Leu2294Gln)
c.6893T>A (p.Leu2298Gln)
c.12104T>A (p.Leu4035Gln)
4g.125468716T>CCA358128579FAT4c.12110T>C (p.Leu4037Pro)
c.6881T>C (p.Leu2294Pro)
c.6893T>C (p.Leu2298Pro)
c.12104T>C (p.Leu4035Pro)
gnomAD v4
4g.125468716T>GCA358128582FAT4c.12110T>G (p.Leu4037Arg)
c.6881T>G (p.Leu2294Arg)
c.6893T>G (p.Leu2298Arg)
c.12104T>G (p.Leu4035Arg)
4g.125468717A=CA1491662372FAT4c.12111A= (p.Leu4037=)
c.6882A= (p.Leu2294=)
c.6894A= (p.Leu2298=)
c.12105A= (p.Leu4035=)
4g.125468717A>CCA441372997FAT4c.12111A>C (p.Leu4037=)
c.6882A>C (p.Leu2294=)
c.6894A>C (p.Leu2298=)
c.12105A>C (p.Leu4035=)
4g.125468717A>GCA441372998FAT4c.12111A>G (p.Leu4037=)
c.6882A>G (p.Leu2294=)
c.6894A>G (p.Leu2298=)
c.12105A>G (p.Leu4035=)
dbSNP gnomAD v2 gnomAD v4
4g.125468717A>TCA441372999FAT4c.12111A>T (p.Leu4037=)
c.6882A>T (p.Leu2294=)
c.6894A>T (p.Leu2298=)
c.12105A>T (p.Leu4035=)
4g.125468718A>CCA441373000FAT4c.12112A>C (p.Arg4038=)
c.6883A>C (p.Arg2295=)
c.6895A>C (p.Arg2299=)
c.12106A>C (p.Arg4036=)
4g.125468718A>GCA358128584FAT4c.12112A>G (p.Arg4038Gly)
c.6883A>G (p.Arg2295Gly)
c.6895A>G (p.Arg2299Gly)
c.12106A>G (p.Arg4036Gly)
4g.125468718A>TCA358128586FAT4c.12112A>T (p.Arg4038Ter)
c.6883A>T (p.Arg2295Ter)
c.6895A>T (p.Arg2299Ter)
c.12106A>T (p.Arg4036Ter)
COSMIC COSMIC
4g.125468719G>ACA3074012FAT4c.12113G>A (p.Arg4038Lys)
c.6884G>A (p.Arg2295Lys)
c.6896G>A (p.Arg2299Lys)
c.12107G>A (p.Arg4036Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125468719G>CCA358128589FAT4c.12113G>C (p.Arg4038Thr)
c.6884G>C (p.Arg2295Thr)
c.6896G>C (p.Arg2299Thr)
c.12107G>C (p.Arg4036Thr)
4g.125468719G=CA1491662373FAT4c.12113G= (p.Arg4038=)
c.6884G= (p.Arg2295=)
c.6896G= (p.Arg2299=)
c.12107G= (p.Arg4036=)
4g.125468719G>TCA358128592FAT4c.12113G>T (p.Arg4038Ile)
c.6884G>T (p.Arg2295Ile)
c.6896G>T (p.Arg2299Ile)
c.12107G>T (p.Arg4036Ile)
4g.125468720A>CCA358128595FAT4c.12114A>C (p.Arg4038Ser)
c.6885A>C (p.Arg2295Ser)
c.6897A>C (p.Arg2299Ser)
c.12108A>C (p.Arg4036Ser)
4g.125468720A>GCA441373001FAT4c.12114A>G (p.Arg4038=)
c.6885A>G (p.Arg2295=)
c.6897A>G (p.Arg2299=)
c.12108A>G (p.Arg4036=)
gnomAD v4
4g.125468720A>TCA358128598FAT4c.12114A>T (p.Arg4038Ser)
c.6885A>T (p.Arg2295Ser)
c.6897A>T (p.Arg2299Ser)
c.12108A>T (p.Arg4036Ser)
gnomAD v4
4g.125468721T>ACA358128605FAT4c.12115T>A (p.Phe4039Ile)
c.6886T>A (p.Phe2296Ile)
c.6898T>A (p.Phe2300Ile)
c.12109T>A (p.Phe4037Ile)
4g.125468721T>CCA358128603FAT4c.12115T>C (p.Phe4039Leu)
c.6886T>C (p.Phe2296Leu)
c.6898T>C (p.Phe2300Leu)
c.12109T>C (p.Phe4037Leu)
4g.125468721T>GCA3074013FAT4c.12115T>G (p.Phe4039Val)
c.6886T>G (p.Phe2296Val)
c.6898T>G (p.Phe2300Val)
c.12109T>G (p.Phe4037Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.125468721T=CA1491662374FAT4c.12115T= (p.Phe4039=)
c.6886T= (p.Phe2296=)
c.6898T= (p.Phe2300=)
c.12109T= (p.Phe4037=)
4g.125468722T>ACA358128609FAT4c.12116T>A (p.Phe4039Tyr)
c.6887T>A (p.Phe2296Tyr)
c.6899T>A (p.Phe2300Tyr)
c.12110T>A (p.Phe4037Tyr)
4g.125468722T>CCA358128611FAT4c.12116T>C (p.Phe4039Ser)
c.6887T>C (p.Phe2296Ser)
c.6899T>C (p.Phe2300Ser)
c.12110T>C (p.Phe4037Ser)
4g.125468722T>GCA358128613FAT4c.12116T>G (p.Phe4039Cys)
c.6887T>G (p.Phe2296Cys)
c.6899T>G (p.Phe2300Cys)
c.12110T>G (p.Phe4037Cys)
4g.125468723C>ACA358128618FAT4c.12117C>A (p.Phe4039Leu)
c.6888C>A (p.Phe2296Leu)
c.6900C>A (p.Phe2300Leu)
c.12111C>A (p.Phe4037Leu)
COSMIC COSMIC
4g.125468723C=CA1491662375FAT4c.12117C= (p.Phe4039=)
c.6888C= (p.Phe2296=)
c.6900C= (p.Phe2300=)
c.12111C= (p.Phe4037=)
4g.125468723C>GCA358128620FAT4c.12117C>G (p.Phe4039Leu)
c.6888C>G (p.Phe2296Leu)
c.6900C>G (p.Phe2300Leu)
c.12111C>G (p.Phe4037Leu)
4g.125468723C>TCA441373002FAT4c.12117C>T (p.Phe4039=)
c.6888C>T (p.Phe2296=)
c.6900C>T (p.Phe2300=)
c.12111C>T (p.Phe4037=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125468724T>ACA358128622FAT4c.12118T>A (p.Ser4040Thr)
c.6889T>A (p.Ser2297Thr)
c.6901T>A (p.Ser2301Thr)
c.12112T>A (p.Ser4038Thr)
4g.125468724T>CCA358128625FAT4c.12118T>C (p.Ser4040Pro)
c.6889T>C (p.Ser2297Pro)
c.6901T>C (p.Ser2301Pro)
c.12112T>C (p.Ser4038Pro)
4g.125468724T>GCA358128628FAT4c.12118T>G (p.Ser4040Ala)
c.6889T>G (p.Ser2297Ala)
c.6901T>G (p.Ser2301Ala)
c.12112T>G (p.Ser4038Ala)
4g.125468725C>ACA358128631FAT4c.12119C>A (p.Ser4040Tyr)
c.6890C>A (p.Ser2297Tyr)
c.6902C>A (p.Ser2301Tyr)
c.12113C>A (p.Ser4038Tyr)
4g.125468725C=CA1491662376FAT4c.12119C= (p.Ser4040=)
c.6890C= (p.Ser2297=)
c.6902C= (p.Ser2301=)
c.12113C= (p.Ser4038=)
4g.125468725C>GCA358128634FAT4c.12119C>G (p.Ser4040Cys)
c.6890C>G (p.Ser2297Cys)
c.6902C>G (p.Ser2301Cys)
c.12113C>G (p.Ser4038Cys)
4g.125468725C>TCA358128639FAT4c.12119C>T (p.Ser4040Phe)
c.6890C>T (p.Ser2297Phe)
c.6902C>T (p.Ser2301Phe)
c.12113C>T (p.Ser4038Phe)
dbSNP gnomAD v4
4g.125468726T>ACA441373003FAT4c.12120T>A (p.Ser4040=)
c.6891T>A (p.Ser2297=)
c.6903T>A (p.Ser2301=)
c.12114T>A (p.Ser4038=)
gnomAD v4
4g.125468726T>CCA441373004FAT4c.12120T>C (p.Ser4040=)
c.6891T>C (p.Ser2297=)
c.6903T>C (p.Ser2301=)
c.12114T>C (p.Ser4038=)
4g.125468726T>GCA441373005FAT4c.12120T>G (p.Ser4040=)
c.6891T>G (p.Ser2297=)
c.6903T>G (p.Ser2301=)
c.12114T>G (p.Ser4038=)
4g.125468727T>ACA358128649FAT4c.12121T>A (p.Tyr4041Asn)
c.6892T>A (p.Tyr2298Asn)
c.6904T>A (p.Tyr2302Asn)
c.12115T>A (p.Tyr4039Asn)
4g.125468727T>CCA358128646FAT4c.12121T>C (p.Tyr4041His)
c.6892T>C (p.Tyr2298His)
c.6904T>C (p.Tyr2302His)
c.12115T>C (p.Tyr4039His)
gnomAD v4
4g.125468727T>GCA358128643FAT4c.12121T>G (p.Tyr4041Asp)
c.6892T>G (p.Tyr2298Asp)
c.6904T>G (p.Tyr2302Asp)
c.12115T>G (p.Tyr4039Asp)
4g.125468728A=CA1491662377FAT4c.12122A= (p.Tyr4041=)
c.6893A= (p.Tyr2298=)
c.6905A= (p.Tyr2302=)
c.12116A= (p.Tyr4039=)
4g.125468728A>CCA358128655FAT4c.12122A>C (p.Tyr4041Ser)
c.6893A>C (p.Tyr2298Ser)
c.6905A>C (p.Tyr2302Ser)
c.12116A>C (p.Tyr4039Ser)
4g.125468728A>GCA358128659FAT4c.12122A>G (p.Tyr4041Cys)
c.6893A>G (p.Tyr2298Cys)
c.6905A>G (p.Tyr2302Cys)
c.12116A>G (p.Tyr4039Cys)
dbSNP gnomAD v2 gnomAD v4
4g.125468728A>TCA358128661FAT4c.12122A>T (p.Tyr4041Phe)
c.6893A>T (p.Tyr2298Phe)
c.6905A>T (p.Tyr2302Phe)
c.12116A>T (p.Tyr4039Phe)
4g.125468729T>ACA358128664FAT4c.12123T>A (p.Tyr4041Ter)
c.6894T>A (p.Tyr2298Ter)
c.6906T>A (p.Tyr2302Ter)
c.12117T>A (p.Tyr4039Ter)
4g.125468729T>CCA441373006FAT4c.12123T>C (p.Tyr4041=)
c.6894T>C (p.Tyr2298=)
c.6906T>C (p.Tyr2302=)
c.12117T>C (p.Tyr4039=)
4g.125468729T>GCA358128667FAT4c.12123T>G (p.Tyr4041Ter)
c.6894T>G (p.Tyr2298Ter)
c.6906T>G (p.Tyr2302Ter)
c.12117T>G (p.Tyr4039Ter)
4g.125468730A>CCA358128670FAT4c.12124A>C (p.Asn4042His)
c.6895A>C (p.Asn2299His)
c.6907A>C (p.Asn2303His)
c.12118A>C (p.Asn4040His)
4g.125468730A>GCA358128671FAT4c.12124A>G (p.Asn4042Asp)
c.6895A>G (p.Asn2299Asp)
c.6907A>G (p.Asn2303Asp)
c.12118A>G (p.Asn4040Asp)
gnomAD v4
4g.125468730A>TCA358128676FAT4c.12124A>T (p.Asn4042Tyr)
c.6895A>T (p.Asn2299Tyr)
c.6907A>T (p.Asn2303Tyr)
c.12118A>T (p.Asn4040Tyr)
4g.125468731A>CCA358128680FAT4c.12125A>C (p.Asn4042Thr)
c.6896A>C (p.Asn2299Thr)
c.6908A>C (p.Asn2303Thr)
c.12119A>C (p.Asn4040Thr)
4g.125468731A>GCA358128682FAT4c.12125A>G (p.Asn4042Ser)
c.6896A>G (p.Asn2299Ser)
c.6908A>G (p.Asn2303Ser)
c.12119A>G (p.Asn4040Ser)
4g.125468731A>TCA358128684FAT4c.12125A>T (p.Asn4042Ile)
c.6896A>T (p.Asn2299Ile)
c.6908A>T (p.Asn2303Ile)
c.12119A>T (p.Asn4040Ile)
4g.125468732T>ACA358128686FAT4c.12126T>A (p.Asn4042Lys)
c.6897T>A (p.Asn2299Lys)
c.6909T>A (p.Asn2303Lys)
c.12120T>A (p.Asn4040Lys)
4g.125468732T>CCA441373007FAT4c.12126T>C (p.Asn4042=)
c.6897T>C (p.Asn2299=)
c.6909T>C (p.Asn2303=)
c.12120T>C (p.Asn4040=)
gnomAD v4
4g.125468732T>GCA358128689FAT4c.12126T>G (p.Asn4042Lys)
c.6897T>G (p.Asn2299Lys)
c.6909T>G (p.Asn2303Lys)
c.12120T>G (p.Asn4040Lys)
4g.125468733T>ACA358128696FAT4c.12127T>A (p.Leu4043Ile)
c.6898T>A (p.Leu2300Ile)
c.6910T>A (p.Leu2304Ile)
c.12121T>A (p.Leu4041Ile)
4g.125468733T>CCA441373008FAT4c.12127T>C (p.Leu4043=)
c.6898T>C (p.Leu2300=)
c.6910T>C (p.Leu2304=)
c.12121T>C (p.Leu4041=)
4g.125468733T>GCA358128693FAT4c.12127T>G (p.Leu4043Val)
c.6898T>G (p.Leu2300Val)
c.6910T>G (p.Leu2304Val)
c.12121T>G (p.Leu4041Val)
4g.125468734T>ACA358128701FAT4c.12128T>A (p.Leu4043Ter)
c.6899T>A (p.Leu2300Ter)
c.6911T>A (p.Leu2304Ter)
c.12122T>A (p.Leu4041Ter)
4g.125468734T>CCA358128707FAT4c.12128T>C (p.Leu4043Ser)
c.6899T>C (p.Leu2300Ser)
c.6911T>C (p.Leu2304Ser)
c.12122T>C (p.Leu4041Ser)
dbSNP
4g.125468734T>GCA358128703FAT4c.12128T>G (p.Leu4043Ter)
c.6899T>G (p.Leu2300Ter)
c.6911T>G (p.Leu2304Ter)
c.12122T>G (p.Leu4041Ter)
4g.125468734T=CA1491662378FAT4c.12128T= (p.Leu4043=)
c.6899T= (p.Leu2300=)
c.6911T= (p.Leu2304=)
c.12122T= (p.Leu4041=)
4g.125468735A>CCA358128710FAT4c.12129A>C (p.Leu4043Phe)
c.6900A>C (p.Leu2300Phe)
c.6912A>C (p.Leu2304Phe)
c.12123A>C (p.Leu4041Phe)
4g.125468735A>GCA441373009FAT4c.12129A>G (p.Leu4043=)
c.6900A>G (p.Leu2300=)
c.6912A>G (p.Leu2304=)
c.12123A>G (p.Leu4041=)
4g.125468735A>TCA358128712FAT4c.12129A>T (p.Leu4043Phe)
c.6900A>T (p.Leu2300Phe)
c.6912A>T (p.Leu2304Phe)
c.12123A>T (p.Leu4041Phe)
4g.125468736G>ACA358128717FAT4c.12130G>A (p.Gly4044Ser)
c.6901G>A (p.Gly2301Ser)
c.6913G>A (p.Gly2305Ser)
c.12124G>A (p.Gly4042Ser)
4g.125468736G>CCA358128720FAT4c.12130G>C (p.Gly4044Arg)
c.6901G>C (p.Gly2301Arg)
c.6913G>C (p.Gly2305Arg)
c.12124G>C (p.Gly4042Arg)
4g.125468736G>TCA358128722FAT4c.12130G>T (p.Gly4044Cys)
c.6901G>T (p.Gly2301Cys)
c.6913G>T (p.Gly2305Cys)
c.12124G>T (p.Gly4042Cys)
4g.125468737G>ACA358128727FAT4c.12131G>A (p.Gly4044Asp)
c.6902G>A (p.Gly2301Asp)
c.6914G>A (p.Gly2305Asp)
c.12125G>A (p.Gly4042Asp)
ClinVar dbSNP
4g.125468737G>CCA3074014FAT4c.12131G>C (p.Gly4044Ala)
c.6902G>C (p.Gly2301Ala)
c.6914G>C (p.Gly2305Ala)
c.12125G>C (p.Gly4042Ala)
dbSNP ExAC
4g.125468737G=CA1491662379FAT4c.12131G= (p.Gly4044=)
c.6902G= (p.Gly2301=)
c.6914G= (p.Gly2305=)
c.12125G= (p.Gly4042=)
4g.125468737G>TCA358128733FAT4c.12131G>T (p.Gly4044Val)
c.6902G>T (p.Gly2301Val)
c.6914G>T (p.Gly2305Val)
c.12125G>T (p.Gly4042Val)
4g.125468738C>ACA441373010FAT4c.12132C>A (p.Gly4044=)
c.6903C>A (p.Gly2301=)
c.6915C>A (p.Gly2305=)
c.12126C>A (p.Gly4042=)
4g.125468738C>GCA441373012FAT4c.12132C>G (p.Gly4044=)
c.6903C>G (p.Gly2301=)
c.6915C>G (p.Gly2305=)
c.12126C>G (p.Gly4042=)
4g.125468738C>TCA441373011FAT4c.12132C>T (p.Gly4044=)
c.6903C>T (p.Gly2301=)
c.6915C>T (p.Gly2305=)
c.12126C>T (p.Gly4042=)
4g.125468739A>CCA358128736FAT4c.12133A>C (p.Ser4045Arg)
c.6904A>C (p.Ser2302Arg)
c.6916A>C (p.Ser2306Arg)
c.12127A>C (p.Ser4043Arg)
4g.125468739A>GCA358128739FAT4c.12133A>G (p.Ser4045Gly)
c.6904A>G (p.Ser2302Gly)
c.6916A>G (p.Ser2306Gly)
c.12127A>G (p.Ser4043Gly)
4g.125468739A>TCA358128740FAT4c.12133A>T (p.Ser4045Cys)
c.6904A>T (p.Ser2302Cys)
c.6916A>T (p.Ser2306Cys)
c.12127A>T (p.Ser4043Cys)
4g.125468740G>ACA358128748FAT4c.12134G>A (p.Ser4045Asn)
c.6905G>A (p.Ser2302Asn)
c.6917G>A (p.Ser2306Asn)
c.12128G>A (p.Ser4043Asn)
gnomAD v4
4g.125468740G>CCA358128744FAT4c.12134G>C (p.Ser4045Thr)
c.6905G>C (p.Ser2302Thr)
c.6917G>C (p.Ser2306Thr)
c.12128G>C (p.Ser4043Thr)
4g.125468740G>TCA358128746FAT4c.12134G>T (p.Ser4045Ile)
c.6905G>T (p.Ser2302Ile)
c.6917G>T (p.Ser2306Ile)
c.12128G>T (p.Ser4043Ile)
4g.125468741T>ACA358128750FAT4c.12135T>A (p.Ser4045Arg)
c.6906T>A (p.Ser2302Arg)
c.6918T>A (p.Ser2306Arg)
c.12129T>A (p.Ser4043Arg)
4g.125468741T>CCA441373013FAT4c.12135T>C (p.Ser4045=)
c.6906T>C (p.Ser2302=)
c.6918T>C (p.Ser2306=)
c.12129T>C (p.Ser4043=)
4g.125468741T>GCA358128751FAT4c.12135T>G (p.Ser4045Arg)
c.6906T>G (p.Ser2302Arg)
c.6918T>G (p.Ser2306Arg)
c.12129T>G (p.Ser4043Arg)
4g.125468742G>ACA358128752FAT4c.12136G>A (p.Gly4046Ser)
c.6907G>A (p.Gly2303Ser)
c.6919G>A (p.Gly2307Ser)
c.12130G>A (p.Gly4044Ser)
4g.125468742G>CCA358128753FAT4c.12136G>C (p.Gly4046Arg)
c.6907G>C (p.Gly2303Arg)
c.6919G>C (p.Gly2307Arg)
c.12130G>C (p.Gly4044Arg)
gnomAD v4
4g.125468742G>TCA358128754FAT4c.12136G>T (p.Gly4046Cys)
c.6907G>T (p.Gly2303Cys)
c.6919G>T (p.Gly2307Cys)
c.12130G>T (p.Gly4044Cys)
COSMIC COSMIC
4g.125468743G>ACA358128756FAT4c.12137G>A (p.Gly4046Asp)
c.6908G>A (p.Gly2303Asp)
c.6920G>A (p.Gly2307Asp)
c.12131G>A (p.Gly4044Asp)
4g.125468743G>CCA358128759FAT4c.12137G>C (p.Gly4046Ala)
c.6908G>C (p.Gly2303Ala)
c.6920G>C (p.Gly2307Ala)
c.12131G>C (p.Gly4044Ala)
4g.125468743G>TCA358128762FAT4c.12137G>T (p.Gly4046Val)
c.6908G>T (p.Gly2303Val)
c.6920G>T (p.Gly2307Val)
c.12131G>T (p.Gly4044Val)
COSMIC COSMIC
4g.125468744T>ACA441373014FAT4c.12138T>A (p.Gly4046=)
c.6909T>A (p.Gly2303=)
c.6921T>A (p.Gly2307=)
c.12132T>A (p.Gly4044=)
4g.125468744T>CCA441373016FAT4c.12138T>C (p.Gly4046=)
c.6909T>C (p.Gly2303=)
c.6921T>C (p.Gly2307=)
c.12132T>C (p.Gly4044=)
4g.125468744T>GCA441373015FAT4c.12138T>G (p.Gly4046=)
c.6909T>G (p.Gly2303=)
c.6921T>G (p.Gly2307=)
c.12132T>G (p.Gly4044=)
4g.125468745A=CA1491662380FAT4c.12139A= (p.Thr4047=)
c.6910A= (p.Thr2304=)
c.6922A= (p.Thr2308=)
c.12133A= (p.Thr4045=)
4g.125468745A>CCA104860445FAT4c.12139A>C (p.Thr4047Pro)
c.6910A>C (p.Thr2304Pro)
c.6922A>C (p.Thr2308Pro)
c.12133A>C (p.Thr4045Pro)
dbSNP gnomAD v4
4g.125468745A>GCA358128767FAT4c.12139A>G (p.Thr4047Ala)
c.6910A>G (p.Thr2304Ala)
c.6922A>G (p.Thr2308Ala)
c.12133A>G (p.Thr4045Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125468745A>TCA358128769FAT4c.12139A>T (p.Thr4047Ser)
c.6910A>T (p.Thr2304Ser)
c.6922A>T (p.Thr2308Ser)
c.12133A>T (p.Thr4045Ser)
4g.125468746C>ACA358128774FAT4c.12140C>A (p.Thr4047Lys)
c.6911C>A (p.Thr2304Lys)
c.6923C>A (p.Thr2308Lys)
c.12134C>A (p.Thr4045Lys)
gnomAD v4
4g.125468746C=CA1491662381FAT4c.12140C= (p.Thr4047=)
c.6911C= (p.Thr2304=)
c.6923C= (p.Thr2308=)
c.12134C= (p.Thr4045=)
4g.125468746C>GCA358128776FAT4c.12140C>G (p.Thr4047Arg)
c.6911C>G (p.Thr2304Arg)
c.6923C>G (p.Thr2308Arg)
c.12134C>G (p.Thr4045Arg)
4g.125468746C>TCA358128772FAT4c.12140C>T (p.Thr4047Ile)
c.6911C>T (p.Thr2304Ile)
c.6923C>T (p.Thr2308Ile)
c.12134C>T (p.Thr4045Ile)
dbSNP gnomAD v2 gnomAD v4
4g.125468747A=CA1491662382FAT4c.12141A= (p.Thr4047=)
c.6912A= (p.Thr2304=)
c.6924A= (p.Thr2308=)
c.12135A= (p.Thr4045=)
4g.125468747A>CCA441373017FAT4c.12141A>C (p.Thr4047=)
c.6912A>C (p.Thr2304=)
c.6924A>C (p.Thr2308=)
c.12135A>C (p.Thr4045=)
4g.125468747A>GCA3074015FAT4c.12141A>G (p.Thr4047=)
c.6912A>G (p.Thr2304=)
c.6924A>G (p.Thr2308=)
c.12135A>G (p.Thr4045=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125468747A>TCA441373018FAT4c.12141A>T (p.Thr4047=)
c.6912A>T (p.Thr2304=)
c.6924A>T (p.Thr2308=)
c.12135A>T (p.Thr4045=)
4g.125468748T>ACA358128782FAT4c.12142T>A (p.Tyr4048Asn)
c.6913T>A (p.Tyr2305Asn)
c.6925T>A (p.Tyr2309Asn)
c.12136T>A (p.Tyr4046Asn)
ClinVar dbSNP
4g.125468748T>CCA358128785FAT4c.12142T>C (p.Tyr4048His)
c.6913T>C (p.Tyr2305His)
c.6925T>C (p.Tyr2309His)
c.12136T>C (p.Tyr4046His)
4g.125468748T>GCA358128788FAT4c.12142T>G (p.Tyr4048Asp)
c.6913T>G (p.Tyr2305Asp)
c.6925T>G (p.Tyr2309Asp)
c.12136T>G (p.Tyr4046Asp)
4g.125468748T=CA1491662383FAT4c.12142T= (p.Tyr4048=)
c.6913T= (p.Tyr2305=)
c.6925T= (p.Tyr2309=)
c.12136T= (p.Tyr4046=)
4g.125468749A>CCA358128791FAT4c.12143A>C (p.Tyr4048Ser)
c.6914A>C (p.Tyr2305Ser)
c.6926A>C (p.Tyr2309Ser)
c.12137A>C (p.Tyr4046Ser)
4g.125468749A>GCA358128794FAT4c.12143A>G (p.Tyr4048Cys)
c.6914A>G (p.Tyr2305Cys)
c.6926A>G (p.Tyr2309Cys)
c.12137A>G (p.Tyr4046Cys)
4g.125468749A>TCA358128797FAT4c.12143A>T (p.Tyr4048Phe)
c.6914A>T (p.Tyr2305Phe)
c.6926A>T (p.Tyr2309Phe)
c.12137A>T (p.Tyr4046Phe)
4g.125468750T>ACA358128798FAT4c.12144T>A (p.Tyr4048Ter)
c.6915T>A (p.Tyr2305Ter)
c.6927T>A (p.Tyr2309Ter)
c.12138T>A (p.Tyr4046Ter)
4g.125468750T>CCA441373019FAT4c.12144T>C (p.Tyr4048=)
c.6915T>C (p.Tyr2305=)
c.6927T>C (p.Tyr2309=)
c.12138T>C (p.Tyr4046=)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.125468750T>GCA358128802FAT4c.12144T>G (p.Tyr4048Ter)
c.6915T>G (p.Tyr2305Ter)
c.6927T>G (p.Tyr2309Ter)
c.12138T>G (p.Tyr4046Ter)
4g.125468750T=CA1491662384FAT4c.12144T= (p.Tyr4048=)
c.6915T= (p.Tyr2305=)
c.6927T= (p.Tyr2309=)
c.12138T= (p.Tyr4046=)
4g.125468751A>CCA358128806FAT4c.12145A>C (p.Lys4049Gln)
c.6916A>C (p.Lys2306Gln)
c.6928A>C (p.Lys2310Gln)
c.12139A>C (p.Lys4047Gln)
4g.125468751A>GCA358128808FAT4c.12145A>G (p.Lys4049Glu)
c.6916A>G (p.Lys2306Glu)
c.6928A>G (p.Lys2310Glu)
c.12139A>G (p.Lys4047Glu)
4g.125468751A>TCA358128810FAT4c.12145A>T (p.Lys4049Ter)
c.6916A>T (p.Lys2306Ter)
c.6928A>T (p.Lys2310Ter)
c.12139A>T (p.Lys4047Ter)
4g.125468752A>CCA358128815FAT4c.12146A>C (p.Lys4049Thr)
c.6917A>C (p.Lys2306Thr)
c.6929A>C (p.Lys2310Thr)
c.12140A>C (p.Lys4047Thr)
4g.125468752A>GCA358128818FAT4c.12146A>G (p.Lys4049Arg)
c.6917A>G (p.Lys2306Arg)
c.6929A>G (p.Lys2310Arg)
c.12140A>G (p.Lys4047Arg)
4g.125468752A>TCA358128813FAT4c.12146A>T (p.Lys4049Met)
c.6917A>T (p.Lys2306Met)
c.6929A>T (p.Lys2310Met)
c.12140A>T (p.Lys4047Met)
4g.125468753G>ACA441373020FAT4c.12147G>A (p.Lys4049=)
c.6918G>A (p.Lys2306=)
c.6930G>A (p.Lys2310=)
c.12141G>A (p.Lys4047=)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.125468753G>CCA358128821FAT4c.12147G>C (p.Lys4049Asn)
c.6918G>C (p.Lys2306Asn)
c.6930G>C (p.Lys2310Asn)
c.12141G>C (p.Lys4047Asn)
gnomAD v4
4g.125468753G=CA1491662385FAT4c.12147G= (p.Lys4049=)
c.6918G= (p.Lys2306=)
c.6930G= (p.Lys2310=)
c.12141G= (p.Lys4047=)
4g.125468753G>TCA358128824FAT4c.12147G>T (p.Lys4049Asn)
c.6918G>T (p.Lys2306Asn)
c.6930G>T (p.Lys2310Asn)
c.12141G>T (p.Lys4047Asn)
dbSNP gnomAD v4
4g.125468754C>ACA358128827FAT4c.12148C>A (p.Leu4050Ile)
c.6919C>A (p.Leu2307Ile)
c.6931C>A (p.Leu2311Ile)
c.12142C>A (p.Leu4048Ile)
4g.125468754C>GCA358128830FAT4c.12148C>G (p.Leu4050Val)
c.6919C>G (p.Leu2307Val)
c.6931C>G (p.Leu2311Val)
c.12142C>G (p.Leu4048Val)
4g.125468754C>TCA358128833FAT4c.12148C>T (p.Leu4050Phe)
c.6919C>T (p.Leu2307Phe)
c.6931C>T (p.Leu2311Phe)
c.12142C>T (p.Leu4048Phe)
4g.125468755T>ACA358128841FAT4c.12149T>A (p.Leu4050His)
c.6920T>A (p.Leu2307His)
c.6932T>A (p.Leu2311His)
c.12143T>A (p.Leu4048His)
4g.125468755T>CCA358128838FAT4c.12149T>C (p.Leu4050Pro)
c.6920T>C (p.Leu2307Pro)
c.6932T>C (p.Leu2311Pro)
c.12143T>C (p.Leu4048Pro)
4g.125468755T>GCA358128836FAT4c.12149T>G (p.Leu4050Arg)
c.6920T>G (p.Leu2307Arg)
c.6932T>G (p.Leu2311Arg)
c.12143T>G (p.Leu4048Arg)
4g.125468756C>ACA441373021FAT4c.12150C>A (p.Leu4050=)
c.6921C>A (p.Leu2307=)
c.6933C>A (p.Leu2311=)
c.12144C>A (p.Leu4048=)
4g.125468756C=CA1491662386FAT4c.12150C= (p.Leu4050=)
c.6921C= (p.Leu2307=)
c.6933C= (p.Leu2311=)
c.12144C= (p.Leu4048=)
4g.125468756C>GCA441373022FAT4c.12150C>G (p.Leu4050=)
c.6921C>G (p.Leu2307=)
c.6933C>G (p.Leu2311=)
c.12144C>G (p.Leu4048=)
4g.125468756C>TCA441373023FAT4c.12150C>T (p.Leu4050=)
c.6921C>T (p.Leu2307=)
c.6933C>T (p.Leu2311=)
c.12144C>T (p.Leu4048=)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.125468757A=CA1491662387FAT4c.12151A= (p.Thr4051=)
c.6922A= (p.Thr2308=)
c.6934A= (p.Thr2312=)
c.12145A= (p.Thr4049=)
4g.125468757A>CCA358128844FAT4c.12151A>C (p.Thr4051Pro)
c.6922A>C (p.Thr2308Pro)
c.6934A>C (p.Thr2312Pro)
c.12145A>C (p.Thr4049Pro)
4g.125468757A>GCA358128846FAT4c.12151A>G (p.Thr4051Ala)
c.6922A>G (p.Thr2308Ala)
c.6934A>G (p.Thr2312Ala)
c.12145A>G (p.Thr4049Ala)
dbSNP gnomAD v2 COSMIC COSMIC
4g.125468757A>TCA104860467FAT4c.12151A>T (p.Thr4051Ser)
c.6922A>T (p.Thr2308Ser)
c.6934A>T (p.Thr2312Ser)
c.12145A>T (p.Thr4049Ser)
dbSNP
4g.125468758C>ACA358128859FAT4c.12152C>A (p.Thr4051Asn)
c.6923C>A (p.Thr2308Asn)
c.6935C>A (p.Thr2312Asn)
c.12146C>A (p.Thr4049Asn)
4g.125468758C=CA1491662388FAT4c.12152C= (p.Thr4051=)
c.6923C= (p.Thr2308=)
c.6935C= (p.Thr2312=)
c.12146C= (p.Thr4049=)
4g.125468758C>GCA358128861FAT4c.12152C>G (p.Thr4051Ser)
c.6923C>G (p.Thr2308Ser)
c.6935C>G (p.Thr2312Ser)
c.12146C>G (p.Thr4049Ser)
4g.125468758C>TCA104860481FAT4c.12152C>T (p.Thr4051Ile)
c.6923C>T (p.Thr2308Ile)
c.6935C>T (p.Thr2312Ile)
c.12146C>T (p.Thr4049Ile)
dbSNP
4g.125468759C>ACA441373024FAT4c.12153C>A (p.Thr4051=)
c.6924C>A (p.Thr2308=)
c.6936C>A (p.Thr2312=)
c.12147C>A (p.Thr4049=)
4g.125468759C>GCA441373026FAT4c.12153C>G (p.Thr4051=)
c.6924C>G (p.Thr2308=)
c.6936C>G (p.Thr2312=)
c.12147C>G (p.Thr4049=)
4g.125468759C>TCA441373025FAT4c.12153C>T (p.Thr4051=)
c.6924C>T (p.Thr2308=)
c.6936C>T (p.Thr2312=)
c.12147C>T (p.Thr4049=)
4g.125468760A>CCA358128868FAT4c.12154A>C (p.Thr4052Pro)
c.6925A>C (p.Thr2309Pro)
c.6937A>C (p.Thr2313Pro)
c.12148A>C (p.Thr4050Pro)
4g.125468760A>GCA358128872FAT4c.12154A>G (p.Thr4052Ala)
c.6925A>G (p.Thr2309Ala)
c.6937A>G (p.Thr2313Ala)
c.12148A>G (p.Thr4050Ala)
4g.125468760A>TCA358128869FAT4c.12154A>T (p.Thr4052Ser)
c.6925A>T (p.Thr2309Ser)
c.6937A>T (p.Thr2313Ser)
c.12148A>T (p.Thr4050Ser)
4g.125468761C>ACA104860484FAT4c.12155C>A (p.Thr4052Asn)
c.6926C>A (p.Thr2309Asn)
c.6938C>A (p.Thr2313Asn)
c.12149C>A (p.Thr4050Asn)
dbSNP gnomAD v4
4g.125468761C=CA1491662389FAT4c.12155C= (p.Thr4052=)
c.6926C= (p.Thr2309=)
c.6938C= (p.Thr2313=)
c.12149C= (p.Thr4050=)
4g.125468761C>GCA358128880FAT4c.12155C>G (p.Thr4052Ser)
c.6926C>G (p.Thr2309Ser)
c.6938C>G (p.Thr2313Ser)
c.12149C>G (p.Thr4050Ser)
4g.125468761C>TCA358128879FAT4c.12155C>T (p.Thr4052Ile)
c.6926C>T (p.Thr2309Ile)
c.6938C>T (p.Thr2313Ile)
c.12149C>T (p.Thr4050Ile)
4g.125468762C>ACA441373027FAT4c.12156C>A (p.Thr4052=)
c.6927C>A (p.Thr2309=)
c.6939C>A (p.Thr2313=)
c.12150C>A (p.Thr4050=)
dbSNP
4g.125468762C=CA1491662390FAT4c.12156C= (p.Thr4052=)
c.6927C= (p.Thr2309=)
c.6939C= (p.Thr2313=)
c.12150C= (p.Thr4050=)
4g.125468762C>GCA441373028FAT4c.12156C>G (p.Thr4052=)
c.6927C>G (p.Thr2309=)
c.6939C>G (p.Thr2313=)
c.12150C>G (p.Thr4050=)
4g.125468762C>TCA441373029FAT4c.12156C>T (p.Thr4052=)
c.6927C>T (p.Thr2309=)
c.6939C>T (p.Thr2313=)
c.12150C>T (p.Thr4050=)
4g.125468763A>CCA358128884FAT4c.12157A>C (p.Met4053Leu)
c.6928A>C (p.Met2310Leu)
c.6940A>C (p.Met2314Leu)
c.12151A>C (p.Met4051Leu)
4g.125468763A>GCA358128890FAT4c.12157A>G (p.Met4053Val)
c.6928A>G (p.Met2310Val)
c.6940A>G (p.Met2314Val)
c.12151A>G (p.Met4051Val)
ClinVar gnomAD v4
4g.125468763A>TCA358128887FAT4c.12157A>T (p.Met4053Leu)
c.6928A>T (p.Met2310Leu)
c.6940A>T (p.Met2314Leu)
c.12151A>T (p.Met4051Leu)
4g.125468764T>ACA358128893FAT4c.12158T>A (p.Met4053Lys)
c.6929T>A (p.Met2310Lys)
c.6941T>A (p.Met2314Lys)
c.12152T>A (p.Met4051Lys)
gnomAD v4
4g.125468764T>CCA358128898FAT4c.12158T>C (p.Met4053Thr)
c.6929T>C (p.Met2310Thr)
c.6941T>C (p.Met2314Thr)
c.12152T>C (p.Met4051Thr)
dbSNP
4g.125468764T>GCA358128895FAT4c.12158T>G (p.Met4053Arg)
c.6929T>G (p.Met2310Arg)
c.6941T>G (p.Met2314Arg)
c.12152T>G (p.Met4051Arg)
4g.125468765G>ACA104860485FAT4c.12159G>A (p.Met4053Ile)
c.6930G>A (p.Met2310Ile)
c.6942G>A (p.Met2314Ile)
c.12153G>A (p.Met4051Ile)
dbSNP COSMIC COSMIC
4g.125468765G>CCA358128904FAT4c.12159G>C (p.Met4053Ile)
c.6930G>C (p.Met2310Ile)
c.6942G>C (p.Met2314Ile)
c.12153G>C (p.Met4051Ile)
4g.125468765G=CA1491662391FAT4c.12159G= (p.Met4053=)
c.6930G= (p.Met2310=)
c.6942G= (p.Met2314=)
c.12153G= (p.Met4051=)
4g.125468765G>TCA358128907FAT4c.12159G>T (p.Met4053Ile)
c.6930G>T (p.Met2310Ile)
c.6942G>T (p.Met2314Ile)
c.12153G>T (p.Met4051Ile)
4g.125468766A>CCA358128911FAT4c.12160A>C (p.Lys4054Gln)
c.6931A>C (p.Lys2311Gln)
c.6943A>C (p.Lys2315Gln)
c.12154A>C (p.Lys4052Gln)
4g.125468766A>GCA358128917FAT4c.12160A>G (p.Lys4054Glu)
c.6931A>G (p.Lys2311Glu)
c.6943A>G (p.Lys2315Glu)
c.12154A>G (p.Lys4052Glu)
4g.125468766A>TCA358128919FAT4c.12160A>T (p.Lys4054Ter)
c.6931A>T (p.Lys2311Ter)
c.6943A>T (p.Lys2315Ter)
c.12154A>T (p.Lys4052Ter)
4g.125468767A>CCA358128926FAT4c.12161A>C (p.Lys4054Thr)
c.6932A>C (p.Lys2311Thr)
c.6944A>C (p.Lys2315Thr)
c.12155A>C (p.Lys4052Thr)
4g.125468767A>GCA358128921FAT4c.12161A>G (p.Lys4054Arg)
c.6932A>G (p.Lys2311Arg)
c.6944A>G (p.Lys2315Arg)
c.12155A>G (p.Lys4052Arg)
4g.125468767A>TCA358128923FAT4c.12161A>T (p.Lys4054Met)
c.6932A>T (p.Lys2311Met)
c.6944A>T (p.Lys2315Met)
c.12155A>T (p.Lys4052Met)
4g.125468768G>ACA441373030FAT4c.12162G>A (p.Lys4054=)
c.6933G>A (p.Lys2311=)
c.6945G>A (p.Lys2315=)
c.12156G>A (p.Lys4052=)
4g.125468768G>CCA358128930FAT4c.12162G>C (p.Lys4054Asn)
c.6933G>C (p.Lys2311Asn)
c.6945G>C (p.Lys2315Asn)
c.12156G>C (p.Lys4052Asn)
4g.125468768G>TCA358128933FAT4c.12162G>T (p.Lys4054Asn)
c.6933G>T (p.Lys2311Asn)
c.6945G>T (p.Lys2315Asn)
c.12156G>T (p.Lys4052Asn)
4g.125468769A>CCA358128937FAT4c.12163A>C (p.Lys4055Gln)
c.6934A>C (p.Lys2312Gln)
c.6946A>C (p.Lys2316Gln)
c.12157A>C (p.Lys4053Gln)
4g.125468769A>GCA358128939FAT4c.12163A>G (p.Lys4055Glu)
c.6934A>G (p.Lys2312Glu)
c.6946A>G (p.Lys2316Glu)
c.12157A>G (p.Lys4053Glu)
4g.125468769A>TCA358128943FAT4c.12163A>T (p.Lys4055Ter)
c.6934A>T (p.Lys2312Ter)
c.6946A>T (p.Lys2316Ter)
c.12157A>T (p.Lys4053Ter)
4g.125468770A>CCA358128954FAT4c.12164A>C (p.Lys4055Thr)
c.6935A>C (p.Lys2312Thr)
c.6947A>C (p.Lys2316Thr)
c.12158A>C (p.Lys4053Thr)
4g.125468770A>GCA358128948FAT4c.12164A>G (p.Lys4055Arg)
c.6935A>G (p.Lys2312Arg)
c.6947A>G (p.Lys2316Arg)
c.12158A>G (p.Lys4053Arg)
4g.125468770A>TCA358128951FAT4c.12164A>T (p.Lys4055Met)
c.6935A>T (p.Lys2312Met)
c.6947A>T (p.Lys2316Met)
c.12158A>T (p.Lys4053Met)
gnomAD v4
4g.125468771G>ACA441373031FAT4c.12165G>A (p.Lys4055=)
c.6936G>A (p.Lys2312=)
c.6948G>A (p.Lys2316=)
c.12159G>A (p.Lys4053=)
gnomAD v4
4g.125468771G>CCA358128957FAT4c.12165G>C (p.Lys4055Asn)
c.6936G>C (p.Lys2312Asn)
c.6948G>C (p.Lys2316Asn)
c.12159G>C (p.Lys4053Asn)
4g.125468771G>TCA358128959FAT4c.12165G>T (p.Lys4055Asn)
c.6936G>T (p.Lys2312Asn)
c.6948G>T (p.Lys2316Asn)
c.12159G>T (p.Lys4053Asn)
4g.125468772G>ACA358128962FAT4c.12166G>A (p.Val4056Met)
c.6937G>A (p.Val2313Met)
c.6949G>A (p.Val2317Met)
c.12160G>A (p.Val4054Met)
4g.125468772G>CCA358128964FAT4c.12166G>C (p.Val4056Leu)
c.6937G>C (p.Val2313Leu)
c.6949G>C (p.Val2317Leu)
c.12160G>C (p.Val4054Leu)
4g.125468772G=CA1491662392FAT4c.12166G= (p.Val4056=)
c.6937G= (p.Val2313=)
c.6949G= (p.Val2317=)
c.12160G= (p.Val4054=)
4g.125468772G>TCA3074016FAT4c.12166G>T (p.Val4056Leu)
c.6937G>T (p.Val2313Leu)
c.6949G>T (p.Val2317Leu)
c.12160G>T (p.Val4054Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125468773T>ACA358128968FAT4c.12167T>A (p.Val4056Glu)
c.6938T>A (p.Val2313Glu)
c.6950T>A (p.Val2317Glu)
c.12161T>A (p.Val4054Glu)
4g.125468773T>CCA358128972FAT4c.12167T>C (p.Val4056Ala)
c.6938T>C (p.Val2313Ala)
c.6950T>C (p.Val2317Ala)
c.12161T>C (p.Val4054Ala)
gnomAD v4
4g.125468773T>GCA358128975FAT4c.12167T>G (p.Val4056Gly)
c.6938T>G (p.Val2313Gly)
c.6950T>G (p.Val2317Gly)
c.12161T>G (p.Val4054Gly)
4g.125468774G>ACA441373033FAT4c.12168G>A (p.Val4056=)
c.6939G>A (p.Val2313=)
c.6951G>A (p.Val2317=)
c.12162G>A (p.Val4054=)
4g.125468774G>CCA441373032FAT4c.12168G>C (p.Val4056=)
c.6939G>C (p.Val2313=)
c.6951G>C (p.Val2317=)
c.12162G>C (p.Val4054=)
4g.125468774G=CA1491662393FAT4c.12168G= (p.Val4056=)
c.6939G= (p.Val2313=)
c.6951G= (p.Val2317=)
c.12162G= (p.Val4054=)
4g.125468774G>TCA3074017FAT4c.12168G>T (p.Val4056=)
c.6939G>T (p.Val2313=)
c.6951G>T (p.Val2317=)
c.12162G>T (p.Val4054=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125468775T>ACA358128981FAT4c.12169T>A (p.Ser4057Thr)
c.6940T>A (p.Ser2314Thr)
c.6952T>A (p.Ser2318Thr)
c.12163T>A (p.Ser4055Thr)
4g.125468775T>CCA358128984FAT4c.12169T>C (p.Ser4057Pro)
c.6940T>C (p.Ser2314Pro)
c.6952T>C (p.Ser2318Pro)
c.12163T>C (p.Ser4055Pro)
4g.125468775T>GCA358128986FAT4c.12169T>G (p.Ser4057Ala)
c.6940T>G (p.Ser2314Ala)
c.6952T>G (p.Ser2318Ala)
c.12163T>G (p.Ser4055Ala)
COSMIC COSMIC
4g.125468776C>ACA358128989FAT4c.12170C>A (p.Ser4057Ter)
c.6941C>A (p.Ser2314Ter)
c.6953C>A (p.Ser2318Ter)
c.12164C>A (p.Ser4055Ter)
4g.125468776C=CA1491662394FAT4c.12170C= (p.Ser4057=)
c.6941C= (p.Ser2314=)
c.6953C= (p.Ser2318=)
c.12164C= (p.Ser4055=)
4g.125468776C>GCA358128995FAT4c.12170C>G (p.Ser4057Ter)
c.6941C>G (p.Ser2314Ter)
c.6953C>G (p.Ser2318Ter)
c.12164C>G (p.Ser4055Ter)
4g.125468776C>TCA358128992FAT4c.12170C>T (p.Ser4057Leu)
c.6941C>T (p.Ser2314Leu)
c.6953C>T (p.Ser2318Leu)
c.12164C>T (p.Ser4055Leu)
4g.125468777A=CA1491662396FAT4c.12171A= (p.Ser4057=)
c.6942A= (p.Ser2314=)
c.6954A= (p.Ser2318=)
c.12165A= (p.Ser4055=)
4g.125468777A>CCA441373034FAT4c.12171A>C (p.Ser4057=)
c.6942A>C (p.Ser2314=)
c.6954A>C (p.Ser2318=)
c.12165A>C (p.Ser4055=)
4g.125468777A>GCA441373035FAT4c.12171A>G (p.Ser4057=)
c.6942A>G (p.Ser2314=)
c.6954A>G (p.Ser2318=)
c.12165A>G (p.Ser4055=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125468777A>TCA441373036FAT4c.12171A>T (p.Ser4057=)
c.6942A>T (p.Ser2314=)
c.6954A>T (p.Ser2318=)
c.12165A>T (p.Ser4055=)
4g.125468777_125468778insTACA1491662395FAT4c.12171_12172insTA (p.Asp4058Ter)
c.6942_6943insTA (p.Asp2315Ter)
c.6954_6955insTA (p.Asp2319Ter)
c.12165_12166insTA (p.Asp4056Ter)
dbSNP
4g.125468778G>ACA358128998FAT4c.12172G>A (p.Asp4058Asn)
c.6943G>A (p.Asp2315Asn)
c.6955G>A (p.Asp2319Asn)
c.12166G>A (p.Asp4056Asn)
4g.125468778G>CCA358129001FAT4c.12172G>C (p.Asp4058His)
c.6943G>C (p.Asp2315His)
c.6955G>C (p.Asp2319His)
c.12166G>C (p.Asp4056His)
4g.125468778G=CA1491662397FAT4c.12172G= (p.Asp4058=)
c.6943G= (p.Asp2315=)
c.6955G= (p.Asp2319=)
c.12166G= (p.Asp4056=)
4g.125468778G>TCA358129003FAT4c.12172G>T (p.Asp4058Tyr)
c.6943G>T (p.Asp2315Tyr)
c.6955G>T (p.Asp2319Tyr)
c.12166G>T (p.Asp4056Tyr)
4g.125468778_125468779insTTGTAAAGCACA1491662398FAT4c.12172_12173insTTGTAAAGCA (p.Asp4058ValfsTer28)
c.6943_6944insTTGTAAAGCA (p.Asp2315ValfsTer28)
c.6955_6956insTTGTAAAGCA (p.Asp2319ValfsTer28)
c.12166_12167insTTGTAAAGCA (p.Asp4056ValfsTer28)
dbSNP
4g.125468779A>CCA358129007FAT4c.12173A>C (p.Asp4058Ala)
c.6944A>C (p.Asp2315Ala)
c.6956A>C (p.Asp2319Ala)
c.12167A>C (p.Asp4056Ala)
4g.125468779A>GCA358129010FAT4c.12173A>G (p.Asp4058Gly)
c.6944A>G (p.Asp2315Gly)
c.6956A>G (p.Asp2319Gly)
c.12167A>G (p.Asp4056Gly)
4g.125468779A>TCA358129012FAT4c.12173A>T (p.Asp4058Val)
c.6944A>T (p.Asp2315Val)
c.6956A>T (p.Asp2319Val)
c.12167A>T (p.Asp4056Val)
4g.125468780T>ACA358129014FAT4c.12174T>A (p.Asp4058Glu)
c.6945T>A (p.Asp2315Glu)
c.6957T>A (p.Asp2319Glu)
c.12168T>A (p.Asp4056Glu)
4g.125468780T>CCA441373037FAT4c.12174T>C (p.Asp4058=)
c.6945T>C (p.Asp2315=)
c.6957T>C (p.Asp2319=)
c.12168T>C (p.Asp4056=)
dbSNP
4g.125468780T>GCA358129017FAT4c.12174T>G (p.Asp4058Glu)
c.6945T>G (p.Asp2315Glu)
c.6957T>G (p.Asp2319Glu)
c.12168T>G (p.Asp4056Glu)
gnomAD v4
4g.125468781G>ACA358129019FAT4c.12175G>A (p.Gly4059Arg)
c.6946G>A (p.Gly2316Arg)
c.6958G>A (p.Gly2320Arg)
c.12169G>A (p.Gly4057Arg)
4g.125468781G>CCA358129022FAT4c.12175G>C (p.Gly4059Arg)
c.6946G>C (p.Gly2316Arg)
c.6958G>C (p.Gly2320Arg)
c.12169G>C (p.Gly4057Arg)
4g.125468781G>TCA358129025FAT4c.12175G>T (p.Gly4059Ter)
c.6946G>T (p.Gly2316Ter)
c.6958G>T (p.Gly2320Ter)
c.12169G>T (p.Gly4057Ter)
4g.125468782G>ACA358129035FAT4c.12176G>A (p.Gly4059Glu)
c.6947G>A (p.Gly2316Glu)
c.6959G>A (p.Gly2320Glu)
c.12170G>A (p.Gly4057Glu)
COSMIC COSMIC
4g.125468782G>CCA358129032FAT4c.12176G>C (p.Gly4059Ala)
c.6947G>C (p.Gly2316Ala)
c.6959G>C (p.Gly2320Ala)
c.12170G>C (p.Gly4057Ala)
4g.125468782G>TCA358129028FAT4c.12176G>T (p.Gly4059Val)
c.6947G>T (p.Gly2316Val)
c.6959G>T (p.Gly2320Val)
c.12170G>T (p.Gly4057Val)
4g.125468783A=CA1491662399FAT4c.12177A= (p.Gly4059=)
c.6948A= (p.Gly2316=)
c.6960A= (p.Gly2320=)
c.12171A= (p.Gly4057=)
4g.125468783A>CCA441373038FAT4c.12177A>C (p.Gly4059=)
c.6948A>C (p.Gly2316=)
c.6960A>C (p.Gly2320=)
c.12171A>C (p.Gly4057=)
4g.125468783A>GCA441373039FAT4c.12177A>G (p.Gly4059=)
c.6948A>G (p.Gly2316=)
c.6960A>G (p.Gly2320=)
c.12171A>G (p.Gly4057=)
4g.125468783A>TCA441373040FAT4c.12177A>T (p.Gly4059=)
c.6948A>T (p.Gly2316=)
c.6960A>T (p.Gly2320=)
c.12171A>T (p.Gly4057=)
dbSNP COSMIC COSMIC
4g.125468784C>ACA358129037FAT4c.12178C>A (p.His4060Asn)
c.6949C>A (p.His2317Asn)
c.6961C>A (p.His2321Asn)
c.12172C>A (p.His4058Asn)
4g.125468784C=CA1491662400FAT4c.12178C= (p.His4060=)
c.6949C= (p.His2317=)
c.6961C= (p.His2321=)
c.12172C= (p.His4058=)
4g.125468784C>GCA358129041FAT4c.12178C>G (p.His4060Asp)
c.6949C>G (p.His2317Asp)
c.6961C>G (p.His2321Asp)
c.12172C>G (p.His4058Asp)
4g.125468784C>TCA3074018FAT4c.12178C>T (p.His4060Tyr)
c.6949C>T (p.His2317Tyr)
c.6961C>T (p.His2321Tyr)
c.12172C>T (p.His4058Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.125468785A=CA1491662401FAT4c.12179A= (p.His4060=)
c.6950A= (p.His2317=)
c.6962A= (p.His2321=)
c.12173A= (p.His4058=)
4g.125468785A>CCA358129046FAT4c.12179A>C (p.His4060Pro)
c.6950A>C (p.His2317Pro)
c.6962A>C (p.His2321Pro)
c.12173A>C (p.His4058Pro)
4g.125468785A>GCA3074019FAT4c.12179A>G (p.His4060Arg)
c.6950A>G (p.His2317Arg)
c.6962A>G (p.His2321Arg)
c.12173A>G (p.His4058Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125468785A>TCA358129051FAT4c.12179A>T (p.His4060Leu)
c.6950A>T (p.His2317Leu)
c.6962A>T (p.His2321Leu)
c.12173A>T (p.His4058Leu)
4g.125468786T>ACA358129053FAT4c.12180T>A (p.His4060Gln)
c.6951T>A (p.His2317Gln)
c.6963T>A (p.His2321Gln)
c.12174T>A (p.His4058Gln)
4g.125468786T>CCA441373041FAT4c.12180T>C (p.His4060=)
c.6951T>C (p.His2317=)
c.6963T>C (p.His2321=)
c.12174T>C (p.His4058=)
ClinVar
4g.125468786T>GCA358129055FAT4c.12180T>G (p.His4060Gln)
c.6951T>G (p.His2317Gln)
c.6963T>G (p.His2321Gln)
c.12174T>G (p.His4058Gln)
4g.125468789delCA645528128FAT4c.12183del (p.His4062ThrfsTer3)
c.6954del (p.His2319ThrfsTer3)
c.6966del (p.His2323ThrfsTer3)
c.12177del (p.His4060ThrfsTer3)
COSMIC COSMIC COSMIC
4g.125468787T>ACA358129062FAT4c.12181T>A (p.Phe4061Ile)
c.6952T>A (p.Phe2318Ile)
c.6964T>A (p.Phe2322Ile)
c.12175T>A (p.Phe4059Ile)
4g.125468787T>CCA358129064FAT4c.12181T>C (p.Phe4061Leu)
c.6952T>C (p.Phe2318Leu)
c.6964T>C (p.Phe2322Leu)
c.12175T>C (p.Phe4059Leu)
4g.125468787T>GCA358129066FAT4c.12181T>G (p.Phe4061Val)
c.6952T>G (p.Phe2318Val)
c.6964T>G (p.Phe2322Val)
c.12175T>G (p.Phe4059Val)
4g.125468788T>ACA358129072FAT4c.12182T>A (p.Phe4061Tyr)
c.6953T>A (p.Phe2318Tyr)
c.6965T>A (p.Phe2322Tyr)
c.12176T>A (p.Phe4059Tyr)
4g.125468788T>CCA358129071FAT4c.12182T>C (p.Phe4061Ser)
c.6953T>C (p.Phe2318Ser)
c.6965T>C (p.Phe2322Ser)
c.12176T>C (p.Phe4059Ser)
4g.125468788T>GCA358129068FAT4c.12182T>G (p.Phe4061Cys)
c.6953T>G (p.Phe2318Cys)
c.6965T>G (p.Phe2322Cys)
c.12176T>G (p.Phe4059Cys)
4g.125468789T>ACA358129075FAT4c.12183T>A (p.Phe4061Leu)
c.6954T>A (p.Phe2318Leu)
c.6966T>A (p.Phe2322Leu)
c.12177T>A (p.Phe4059Leu)
4g.125468789T>CCA441373042FAT4c.12183T>C (p.Phe4061=)
c.6954T>C (p.Phe2318=)
c.6966T>C (p.Phe2322=)
c.12177T>C (p.Phe4059=)
gnomAD v4
4g.125468789T>GCA358129077FAT4c.12183T>G (p.Phe4061Leu)
c.6954T>G (p.Phe2318Leu)
c.6966T>G (p.Phe2322Leu)
c.12177T>G (p.Phe4059Leu)
dbSNP gnomAD v3 gnomAD v4
4g.125468789T=CA1491662402FAT4c.12183T= (p.Phe4061=)
c.6954T= (p.Phe2318=)
c.6966T= (p.Phe2322=)
c.12177T= (p.Phe4059=)
4g.125468790C>ACA358129079FAT4c.12184C>A (p.His4062Asn)
c.6955C>A (p.His2319Asn)
c.6967C>A (p.His2323Asn)
c.12178C>A (p.His4060Asn)
4g.125468790C>GCA358129081FAT4c.12184C>G (p.His4062Asp)
c.6955C>G (p.His2319Asp)
c.6967C>G (p.His2323Asp)
c.12178C>G (p.His4060Asp)
4g.125468790C>TCA358129085FAT4c.12184C>T (p.His4062Tyr)
c.6955C>T (p.His2319Tyr)
c.6967C>T (p.His2323Tyr)
c.12178C>T (p.His4060Tyr)
4g.125468791A>CCA358129088FAT4c.12185A>C (p.His4062Pro)
c.6956A>C (p.His2319Pro)
c.6968A>C (p.His2323Pro)
c.12179A>C (p.His4060Pro)
4g.125468791A>GCA358129091FAT4c.12185A>G (p.His4062Arg)
c.6956A>G (p.His2319Arg)
c.6968A>G (p.His2323Arg)
c.12179A>G (p.His4060Arg)
4g.125468791A>TCA358129092FAT4c.12185A>T (p.His4062Leu)
c.6956A>T (p.His2319Leu)
c.6968A>T (p.His2323Leu)
c.12179A>T (p.His4060Leu)
4g.125468792C>ACA358129097FAT4c.12186C>A (p.His4062Gln)
c.6957C>A (p.His2319Gln)
c.6969C>A (p.His2323Gln)
c.12180C>A (p.His4060Gln)
4g.125468792C>GCA358129101FAT4c.12186C>G (p.His4062Gln)
c.6957C>G (p.His2319Gln)
c.6969C>G (p.His2323Gln)
c.12180C>G (p.His4060Gln)
4g.125468792C>TCA441204205FAT4c.12186C>T (p.His4062=)
c.6957C>T (p.His2319=)
c.6969C>T (p.His2323=)
c.12180C>T (p.His4060=)
4g.125468793A=CA1491662403FAT4c.12187A= (p.Thr4063=)
c.6958A= (p.Thr2320=)
c.6970A= (p.Thr2324=)
c.12181A= (p.Thr4061=)
4g.125468793A>CCA358129104FAT4c.12187A>C (p.Thr4063Pro)
c.6958A>C (p.Thr2320Pro)
c.6970A>C (p.Thr2324Pro)
c.12181A>C (p.Thr4061Pro)
4g.125468793A>GCA3074020FAT4c.12187A>G (p.Thr4063Ala)
c.6958A>G (p.Thr2320Ala)
c.6970A>G (p.Thr2324Ala)
c.12181A>G (p.Thr4061Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.125468793A>TCA358129109FAT4c.12187A>T (p.Thr4063Ser)
c.6958A>T (p.Thr2320Ser)
c.6970A>T (p.Thr2324Ser)
c.12181A>T (p.Thr4061Ser)
4g.125468794C>ACA358129116FAT4c.12188C>A (p.Thr4063Asn)
c.6959C>A (p.Thr2320Asn)
c.6971C>A (p.Thr2324Asn)
c.12182C>A (p.Thr4061Asn)
4g.125468794C>GCA358129114FAT4c.12188C>G (p.Thr4063Ser)
c.6959C>G (p.Thr2320Ser)
c.6971C>G (p.Thr2324Ser)
c.12182C>G (p.Thr4061Ser)
4g.125468794C>TCA358129112FAT4c.12188C>T (p.Thr4063Ile)
c.6959C>T (p.Thr2320Ile)
c.6971C>T (p.Thr2324Ile)
c.12182C>T (p.Thr4061Ile)
4g.125468795T>ACA441204211FAT4c.12189T>A (p.Thr4063=)
c.6960T>A (p.Thr2320=)
c.6972T>A (p.Thr2324=)
c.12183T>A (p.Thr4061=)
4g.125468795T>CCA441204210FAT4c.12189T>C (p.Thr4063=)
c.6960T>C (p.Thr2320=)
c.6972T>C (p.Thr2324=)
c.12183T>C (p.Thr4061=)
dbSNP gnomAD v4
4g.125468795T>GCA441204209FAT4c.12189T>G (p.Thr4063=)
c.6960T>G (p.Thr2320=)
c.6972T>G (p.Thr2324=)
c.12183T>G (p.Thr4061=)
dbSNP gnomAD v4
4g.125468795T=CA1491662404FAT4c.12189T= (p.Thr4063=)
c.6960T= (p.Thr2320=)
c.6972T= (p.Thr2324=)
c.12183T= (p.Thr4061=)
4g.125468796G>ACA358129120FAT4c.12190G>A (p.Val4064Met)
c.6961G>A (p.Val2321Met)
c.6973G>A (p.Val2325Met)
c.12184G>A (p.Val4062Met)
dbSNP
4g.125468796G>CCA358129124FAT4c.12190G>C (p.Val4064Leu)
c.6961G>C (p.Val2321Leu)
c.6973G>C (p.Val2325Leu)
c.12184G>C (p.Val4062Leu)
4g.125468796G=CA1491662405FAT4c.12190G= (p.Val4064=)
c.6961G= (p.Val2321=)
c.6973G= (p.Val2325=)
c.12184G= (p.Val4062=)
4g.125468796G>TCA358129127FAT4c.12190G>T (p.Val4064Leu)
c.6961G>T (p.Val2321Leu)
c.6973G>T (p.Val2325Leu)
c.12184G>T (p.Val4062Leu)
4g.125468797T>ACA358129130FAT4c.12191T>A (p.Val4064Glu)
c.6962T>A (p.Val2321Glu)
c.6974T>A (p.Val2325Glu)
c.12185T>A (p.Val4062Glu)
4g.125468797T>CCA358129134FAT4c.12191T>C (p.Val4064Ala)
c.6962T>C (p.Val2321Ala)
c.6974T>C (p.Val2325Ala)
c.12185T>C (p.Val4062Ala)
4g.125468797T>GCA358129136FAT4c.12191T>G (p.Val4064Gly)
c.6962T>G (p.Val2321Gly)
c.6974T>G (p.Val2325Gly)
c.12185T>G (p.Val4062Gly)
4g.125468798G>ACA441204213FAT4c.12192G>A (p.Val4064=)
c.6963G>A (p.Val2321=)
c.6975G>A (p.Val2325=)
c.12186G>A (p.Val4062=)
4g.125468798G>CCA441204214FAT4c.12192G>C (p.Val4064=)
c.6963G>C (p.Val2321=)
c.6975G>C (p.Val2325=)
c.12186G>C (p.Val4062=)
4g.125468798G>TCA441204215FAT4c.12192G>T (p.Val4064=)
c.6963G>T (p.Val2321=)
c.6975G>T (p.Val2325=)
c.12186G>T (p.Val4062=)
4g.125468799A=CA1491662406FAT4c.12193A= (p.Ile4065=)
c.6964A= (p.Ile2322=)
c.6976A= (p.Ile2326=)
c.12187A= (p.Ile4063=)
4g.125468799A>CCA358129142FAT4c.12193A>C (p.Ile4065Leu)
c.6964A>C (p.Ile2322Leu)
c.6976A>C (p.Ile2326Leu)
c.12187A>C (p.Ile4063Leu)
4g.125468799A>GCA358129145FAT4c.12193A>G (p.Ile4065Val)
c.6964A>G (p.Ile2322Val)
c.6976A>G (p.Ile2326Val)
c.12187A>G (p.Ile4063Val)
4g.125468799A>TCA358129149FAT4c.12193A>T (p.Ile4065Phe)
c.6964A>T (p.Ile2322Phe)
c.6976A>T (p.Ile2326Phe)
c.12187A>T (p.Ile4063Phe)
dbSNP gnomAD v3 gnomAD v4
4g.125468800T>ACA358129154FAT4c.12194T>A (p.Ile4065Asn)
c.6965T>A (p.Ile2322Asn)
c.6977T>A (p.Ile2326Asn)
c.12188T>A (p.Ile4063Asn)
4g.125468800T>CCA358129160FAT4c.12194T>C (p.Ile4065Thr)
c.6965T>C (p.Ile2322Thr)
c.6977T>C (p.Ile2326Thr)
c.12188T>C (p.Ile4063Thr)
4g.125468800T>GCA358129162FAT4c.12194T>G (p.Ile4065Ser)
c.6965T>G (p.Ile2322Ser)
c.6977T>G (p.Ile2326Ser)
c.12188T>G (p.Ile4063Ser)
4g.125468801T>ACA441204218FAT4c.12195T>A (p.Ile4065=)
c.6966T>A (p.Ile2322=)
c.6978T>A (p.Ile2326=)
c.12189T>A (p.Ile4063=)
4g.125468801T>CCA441204220FAT4c.12195T>C (p.Ile4065=)
c.6966T>C (p.Ile2322=)
c.6978T>C (p.Ile2326=)
c.12189T>C (p.Ile4063=)
4g.125468801T>GCA358129164FAT4c.12195T>G (p.Ile4065Met)
c.6966T>G (p.Ile2322Met)
c.6978T>G (p.Ile2326Met)
c.12189T>G (p.Ile4063Met)
4g.125468802G>ACA358129168FAT4c.12196G>A (p.Ala4066Thr)
c.6967G>A (p.Ala2323Thr)
c.6979G>A (p.Ala2327Thr)
c.12190G>A (p.Ala4064Thr)
gnomAD v4
4g.125468802G>CCA358129169FAT4c.12196G>C (p.Ala4066Pro)
c.6967G>C (p.Ala2323Pro)
c.6979G>C (p.Ala2327Pro)
c.12190G>C (p.Ala4064Pro)
4g.125468802G>TCA358129167FAT4c.12196G>T (p.Ala4066Ser)
c.6967G>T (p.Ala2323Ser)
c.6979G>T (p.Ala2327Ser)
c.12190G>T (p.Ala4064Ser)
4g.125468803C>ACA358129171FAT4c.12197C>A (p.Ala4066Asp)
c.6968C>A (p.Ala2323Asp)
c.6980C>A (p.Ala2327Asp)
c.12191C>A (p.Ala4064Asp)
gnomAD v4
4g.125468803C=CA1491662407FAT4c.12197C= (p.Ala4066=)
c.6968C= (p.Ala2323=)
c.6980C= (p.Ala2327=)
c.12191C= (p.Ala4064=)
4g.125468803C>GCA358129175FAT4c.12197C>G (p.Ala4066Gly)
c.6968C>G (p.Ala2323Gly)
c.6980C>G (p.Ala2327Gly)
c.12191C>G (p.Ala4064Gly)
4g.125468803C>TCA104860510FAT4c.12197C>T (p.Ala4066Val)
c.6968C>T (p.Ala2323Val)
c.6980C>T (p.Ala2327Val)
c.12191C>T (p.Ala4064Val)
dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched