Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.129058767_129062425delCA2573052078 ClinVar
3g.129060779_129062406delCA2573052079GP9c.-210_*133del
c.-84_*133del
ClinVar
3g.129061780C>ACA354446441GP9c.41C>A (p.Ala14Glu)
gnomAD v4
3g.129061780C=CA1401004645GP9c.41C= (p.Ala14=)
3g.129061780C>GCA354446438GP9c.41C>G (p.Ala14Gly)
3g.129061780C>TCA2602625GP9c.41C>T (p.Ala14Val)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.129061781A>CCA435766503GP9c.42A>C (p.Ala14=)
3g.129061781A>GCA435766507GP9c.42A>G (p.Ala14=)
3g.129061781A>TCA435766505GP9c.42A>T (p.Ala14=)
3g.129061782G>ACA354446442GP9c.43G>A (p.Glu15Lys)
3g.129061782G>CCA354446444GP9c.43G>C (p.Glu15Gln)
3g.129061782G>TCA354446446GP9c.43G>T (p.Glu15Ter)
gnomAD v4
3g.129061783delCA2703971117GP9c.44del (p.Glu15GlyfsTer?)
dbSNP
3g.129061783A>CCA354446448GP9c.44A>C (p.Glu15Ala)
3g.129061783A>GCA354446450GP9c.44A>G (p.Glu15Gly)
3g.129061783A>TCA354446452GP9c.44A>T (p.Glu15Val)
3g.129061784G>ACA435766510GP9c.45G>A (p.Glu15=)
gnomAD v4
3g.129061784G>CCA354446454GP9c.45G>C (p.Glu15Asp)
3g.129061784G>TCA354446456GP9c.45G>T (p.Glu15Asp)
3g.129061785G>ACA354446457GP9c.46G>A (p.Ala16Thr)
3g.129061785G>CCA354446458GP9c.46G>C (p.Ala16Pro)
3g.129061785G>TCA354446460GP9c.46G>T (p.Ala16Ser)
COSMIC
3g.129061786C>ACA354446466GP9c.47C>A (p.Ala16Asp)
3g.129061786C=CA1401004646GP9c.47C= (p.Ala16=)
3g.129061786C>GCA354446462GP9c.47C>G (p.Ala16Gly)
3g.129061786C>TCA354446464GP9c.47C>T (p.Ala16Val)
dbSNP gnomAD v2
3g.129061787C>ACA435766515GP9c.48C>A (p.Ala16=)
3g.129061787C>GCA435766516GP9c.48C>G (p.Ala16=)
3g.129061787C>TCA435766517GP9c.48C>T (p.Ala16=)
gnomAD v4
3g.129061788A>CCA354446468GP9c.49A>C (p.Thr17Pro)
3g.129061788A>GCA354446469GP9c.49A>G (p.Thr17Ala)
3g.129061788A>TCA354446471GP9c.49A>T (p.Thr17Ser)
3g.129061789C>ACA354446473GP9c.50C>A (p.Thr17Asn)
3g.129061789C=CA1401004647GP9c.50C= (p.Thr17=)
3g.129061789C>GCA354446475GP9c.50C>G (p.Thr17Ser)
3g.129061789C>TCA354446479GP9c.50C>T (p.Thr17Ile)
dbSNP gnomAD v2
3g.129061790C>ACA435766523GP9c.51C>A (p.Thr17=)
3g.129061790C>GCA435766522GP9c.51C>G (p.Thr17=)
3g.129061790C>TCA435766524GP9c.51C>T (p.Thr17=)
3g.129061791A>CCA354446482GP9c.52A>C (p.Lys18Gln)
3g.129061791A>GCA354446484GP9c.52A>G (p.Lys18Glu)
3g.129061791A>TCA354446486GP9c.52A>T (p.Lys18Ter)
3g.129061792A=CA1401004648GP9c.53A= (p.Lys18=)
3g.129061792A>CCA82552119GP9c.53A>C (p.Lys18Thr)
dbSNP
3g.129061792A>GCA354446487GP9c.53A>G (p.Lys18Arg)
3g.129061792A>TCA354446489GP9c.53A>T (p.Lys18Met)
3g.129061793G>ACA435766528GP9c.54G>A (p.Lys18=)
3g.129061793G>CCA354446492GP9c.54G>C (p.Lys18Asn)
dbSNP gnomAD v4
3g.129061793G=CA1401004649GP9c.54G= (p.Lys18=)
3g.129061793G>TCA354446491GP9c.54G>T (p.Lys18Asn)
3g.129061794G>ACA354446494GP9c.55G>A (p.Asp19Asn)
dbSNP gnomAD v4 COSMIC
3g.129061794G>CCA354446496GP9c.55G>C (p.Asp19His)
3g.129061794G=CA1401004650GP9c.55G= (p.Asp19=)
3g.129061794G>TCA354446497GP9c.55G>T (p.Asp19Tyr)
gnomAD v4
3g.129061795A=CA1401004651GP9c.56A= (p.Asp19=)
3g.129061795A>CCA354446499GP9c.56A>C (p.Asp19Ala)
3g.129061795A>GCA2602626GP9c.56A>G (p.Asp19Gly)
dbSNP ExAC gnomAD v2
3g.129061795A>TCA354446502GP9c.56A>T (p.Asp19Val)
3g.129061796C>ACA354446503GP9c.57C>A (p.Asp19Glu)
3g.129061796C>GCA354446504GP9c.57C>G (p.Asp19Glu)
3g.129061796C>TCA435766529GP9c.57C>T (p.Asp19=)
3g.129061797T>ACA354446506GP9c.58T>A (p.Cys20Ser)
gnomAD v4
3g.129061797T>CCA354446507GP9c.58T>C (p.Cys20Arg)
3g.129061797T>GCA354446509GP9c.58T>G (p.Cys20Gly)
dbSNP gnomAD v3 gnomAD v4
3g.129061797T=CA1401004652GP9c.58T= (p.Cys20=)
3g.129061798G>ACA354446511GP9c.59G>A (p.Cys20Tyr)
3g.129061798G>CCA354446513GP9c.59G>C (p.Cys20Ser)
3g.129061798G>TCA354446515GP9c.59G>T (p.Cys20Phe)
3g.129061799C>ACA354446519GP9c.60C>A (p.Cys20Ter)
gnomAD v4
3g.129061799C=CA1401004653GP9c.60C= (p.Cys20=)
3g.129061799C>GCA354446517GP9c.60C>G (p.Cys20Trp)
3g.129061799C>TCA435766532GP9c.60C>T (p.Cys20=)
dbSNP gnomAD v2
3g.129061802dupCA2758355598GP9c.63dup (p.Ser22GlnfsTer?)
3g.129061800C>ACA354446521GP9c.61C>A (p.Pro21Thr)
3g.129061800C>GCA354446523GP9c.61C>G (p.Pro21Ala)
3g.129061800C>TCA354446524GP9c.61C>T (p.Pro21Ser)
3g.129061801C>ACA354446525GP9c.62C>A (p.Pro21His)
3g.129061801C>GCA354446527GP9c.62C>G (p.Pro21Arg)
3g.129061801C>TCA354446529GP9c.62C>T (p.Pro21Leu)
3g.129061802C>ACA435766536GP9c.63C>A (p.Pro21=)
dbSNP
3g.129061802C=CA1401004654GP9c.63C= (p.Pro21=)
3g.129061802C>GCA435766535GP9c.63C>G (p.Pro21=)
3g.129061802C>TCA435766537GP9c.63C>T (p.Pro21=)
3g.129061803A=CA1401004655GP9c.64A= (p.Ser22=)
3g.129061803A>CCA354446538GP9c.64A>C (p.Ser22Arg)
dbSNP gnomAD v3 gnomAD v4
3g.129061803A>GCA354446532GP9c.64A>G (p.Ser22Gly)
3g.129061803A>TCA354446535GP9c.64A>T (p.Ser22Cys)
3g.129061804G>ACA354446541GP9c.65G>A (p.Ser22Asn)
3g.129061804G>CCA2602627GP9c.65G>C (p.Ser22Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.129061804G=CA1401004656GP9c.65G= (p.Ser22=)
3g.129061804G>TCA354446553GP9c.65G>T (p.Ser22Ile)
3g.129061805C>ACA354446557GP9c.66C>A (p.Ser22Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.129061805C=CA1401004657GP9c.66C= (p.Ser22=)
3g.129061805C>GCA354446559GP9c.66C>G (p.Ser22Arg)
3g.129061805C>TCA435766538GP9c.66C>T (p.Ser22=)
3g.129061806C>ACA354446560GP9c.67C>A (p.Pro23Thr)
gnomAD v4
3g.129061806C=CA1401004658GP9c.67C= (p.Pro23=)
3g.129061806C>GCA354446573GP9c.67C>G (p.Pro23Ala)
3g.129061806C>TCA354446562GP9c.67C>T (p.Pro23Ser)
dbSNP gnomAD v2 gnomAD v4
3g.129061807C>ACA354446576GP9c.68C>A (p.Pro23Gln)
gnomAD v4
3g.129061807C>GCA354446582GP9c.68C>G (p.Pro23Arg)
3g.129061807C>TCA354446578GP9c.68C>T (p.Pro23Leu)
COSMIC
3g.129061808A=CA1401004659GP9c.69A= (p.Pro23=)
3g.129061808A>CCA435766543GP9c.69A>C (p.Pro23=)
3g.129061808A>GCA435766540GP9c.69A>G (p.Pro23=)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.129061808A>TCA435766541GP9c.69A>T (p.Pro23=)
3g.129061809delCA2667574785GP9c.70del (p.Cys24ValfsTer?)
gnomAD v4
3g.129061809T>ACA354446589GP9c.70T>A (p.Cys24Ser)
3g.129061809T>CCA123181GP9c.70T>C (p.Cys24Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.129061809T>GCA354446592GP9c.70T>G (p.Cys24Gly)
3g.129061809T=CA1401004660GP9c.70T= (p.Cys24=)
3g.129061810G>ACA354446606GP9c.71G>A (p.Cys24Tyr)
3g.129061810G>CCA354446607GP9c.71G>C (p.Cys24Ser)
3g.129061810G>TCA354446608GP9c.71G>T (p.Cys24Phe)
3g.129061811T>ACA354446610GP9c.72T>A (p.Cys24Ter)
3g.129061811T>CCA435766547GP9c.72T>C (p.Cys24=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.129061811T>GCA354446617GP9c.72T>G (p.Cys24Trp)
3g.129061811T=CA1401004661GP9c.72T= (p.Cys24=)
3g.129061812A=CA1401004662GP9c.73A= (p.Thr25=)
3g.129061812A>CCA354446618GP9c.73A>C (p.Thr25Pro)
dbSNP gnomAD v4
3g.129061812A>GCA354446620GP9c.73A>G (p.Thr25Ala)
3g.129061812A>TCA354446621GP9c.73A>T (p.Thr25Ser)
3g.129061812_129061813delCA2667574786GP9c.73_74del (p.Thr25LeufsTer?)
gnomAD v4
3g.129061813C>ACA354446625GP9c.74C>A (p.Thr25Asn)
dbSNP gnomAD v4
3g.129061813C=CA1401004663GP9c.74C= (p.Thr25=)
3g.129061813C>GCA354446623GP9c.74C>G (p.Thr25Ser)
3g.129061813C>TCA354446624GP9c.74C>T (p.Thr25Ile)
dbSNP gnomAD v2 gnomAD v4
3g.129061814delCA2667574787GP9c.75del (p.Cys26AlafsTer?)
gnomAD v4
3g.129061814C>ACA435766549GP9c.75C>A (p.Thr25=)
3g.129061814C=CA1401004664GP9c.75C= (p.Thr25=)
3g.129061814C>GCA435766548GP9c.75C>G (p.Thr25=)
3g.129061814C>TCA435766550GP9c.75C>T (p.Thr25=)
ClinVar dbSNP gnomAD v4
3g.129061815T>ACA354446626GP9c.76T>A (p.Cys26Ser)
3g.129061815T>CCA354446628GP9c.76T>C (p.Cys26Arg)
3g.129061815T>GCA354446631GP9c.76T>G (p.Cys26Gly)
3g.129061816G>ACA354446632GP9c.77G>A (p.Cys26Tyr)
3g.129061816G>CCA354446635GP9c.77G>C (p.Cys26Ser)
3g.129061816G>TCA354446637GP9c.77G>T (p.Cys26Phe)
3g.129061817C>ACA354446638GP9c.78C>A (p.Cys26Ter)
3g.129061817C=CA1401004665GP9c.78C= (p.Cys26=)
3g.129061817C>GCA354446642GP9c.78C>G (p.Cys26Trp)
3g.129061817C>TCA435766551GP9c.78C>T (p.Cys26=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.129061818C>ACA354446645GP9c.79C>A (p.Arg27Ser)
3g.129061818C=CA1401004666GP9c.79C= (p.Arg27=)
3g.129061818C>GCA354446646GP9c.79C>G (p.Arg27Gly)
3g.129061818C>TCA354446647GP9c.79C>T (p.Arg27Cys)
dbSNP gnomAD v2 gnomAD v4
3g.129061819G>ACA2602628GP9c.80G>A (p.Arg27His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.129061819G>CCA354446656GP9c.80G>C (p.Arg27Pro)
3g.129061819G=CA1401004667GP9c.80G= (p.Arg27=)
3g.129061819G>TCA354446649GP9c.80G>T (p.Arg27Leu)
3g.129061820C>ACA435766554GP9c.81C>A (p.Arg27=)
3g.129061820C=CA1401004668GP9c.81C= (p.Arg27=)
3g.129061820C>GCA435766553GP9c.81C>G (p.Arg27=)
dbSNP gnomAD v3 gnomAD v4
3g.129061820C>TCA2602629GP9c.81C>T (p.Arg27=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.129061821G>ACA2602630GP9c.82G>A (p.Ala28Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.129061821G>CCA354446662GP9c.82G>C (p.Ala28Pro)
dbSNP gnomAD v3 gnomAD v4
3g.129061821G=CA1401004669GP9c.82G= (p.Ala28=)
3g.129061821G>TCA354446663GP9c.82G>T (p.Ala28Ser)
3g.129061822C>ACA354446666GP9c.83C>A (p.Ala28Asp)
3g.129061822C>GCA354446668GP9c.83C>G (p.Ala28Gly)
3g.129061822C>TCA354446669GP9c.83C>T (p.Ala28Val)
gnomAD v4 COSMIC
3g.129061823C>ACA435766559GP9c.84C>A (p.Ala28=)
3g.129061823C>GCA435766560GP9c.84C>G (p.Ala28=)
3g.129061823C>TCA435766558GP9c.84C>T (p.Ala28=)
3g.129061824C>ACA354446672GP9c.85C>A (p.Leu29Met)
3g.129061824C>GCA354446674GP9c.85C>G (p.Leu29Val)
3g.129061824C>TCA435766561GP9c.85C>T (p.Leu29=)
3g.129061824_129061833delinsCTGGAAACCACA1401004670GP9c.85_94delinsCTGGAAACCA (p.Leu29=)
3g.129061825T>ACA354446687GP9c.86T>A (p.Leu29Gln)
3g.129061825T>CCA354446690GP9c.86T>C (p.Leu29Pro)
gnomAD v4
3g.129061825T>GCA354446691GP9c.86T>G (p.Leu29Arg)
3g.129061828_129061836delCA546416951GP9c.89_97del (p.Glu30_Met32del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.129061826G>ACA435766564GP9c.87G>A (p.Leu29=)
ClinVar gnomAD v4 COSMIC
3g.129061826G>CCA435766565GP9c.87G>C (p.Leu29=)
3g.129061826G>TCA435766566GP9c.87G>T (p.Leu29=)
gnomAD v4
3g.129061827G>ACA354446693GP9c.88G>A (p.Glu30Lys)
COSMIC
3g.129061827G>CCA354446694GP9c.88G>C (p.Glu30Gln)
3g.129061827G>TCA354446692GP9c.88G>T (p.Glu30Ter)
gnomAD v4
3g.129061828A>CCA354446695GP9c.89A>C (p.Glu30Ala)
3g.129061828A>GCA354446696GP9c.89A>G (p.Glu30Gly)
3g.129061828A>TCA354446698GP9c.89A>T (p.Glu30Val)
3g.129061829A>CCA354446704GP9c.90A>C (p.Glu30Asp)
3g.129061829A>GCA435766569GP9c.90A>G (p.Glu30=)
3g.129061829A>TCA354446705GP9c.90A>T (p.Glu30Asp)
3g.129061830A>CCA354446711GP9c.91A>C (p.Thr31Pro)
3g.129061830A>GCA354446706GP9c.91A>G (p.Thr31Ala)
3g.129061830A>TCA354446709GP9c.91A>T (p.Thr31Ser)
3g.129061831C>ACA354446716GP9c.92C>A (p.Thr31Asn)
3g.129061831C=CA1401004671GP9c.92C= (p.Thr31=)
3g.129061831C>GCA82552149GP9c.92C>G (p.Thr31Ser)
dbSNP gnomAD v4
3g.129061831C>TCA354446726GP9c.92C>T (p.Thr31Ile)
3g.129061832C>ACA435766573GP9c.93C>A (p.Thr31=)
gnomAD v4
3g.129061832C=CA1401004672GP9c.93C= (p.Thr31=)
3g.129061832C>GCA435766571GP9c.93C>G (p.Thr31=)
3g.129061832C>TCA435766570GP9c.93C>T (p.Thr31=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.129061833A>CCA354446728GP9c.94A>C (p.Met32Leu)
3g.129061833A>GCA354446737GP9c.94A>G (p.Met32Val)
3g.129061833A>TCA354446740GP9c.94A>T (p.Met32Leu)
gnomAD v4
3g.129061834T>ACA354446746GP9c.95T>A (p.Met32Lys)
3g.129061834T>CCA354446747GP9c.95T>C (p.Met32Thr)
dbSNP gnomAD v2 gnomAD v4
3g.129061834T>GCA354446742GP9c.95T>G (p.Met32Arg)
3g.129061834T=CA1401004673GP9c.95T= (p.Met32=)
3g.129061835G>ACA354446750GP9c.96G>A (p.Met32Ile)
3g.129061835G>CCA354446749GP9c.96G>C (p.Met32Ile)
3g.129061835G>TCA354446751GP9c.96G>T (p.Met32Ile)
COSMIC
3g.129061836G>ACA354446753GP9c.97G>A (p.Gly33Arg)
3g.129061836G>CCA354446759GP9c.97G>C (p.Gly33Arg)
3g.129061836G>TCA354446767GP9c.97G>T (p.Gly33Trp)
3g.129061837G>ACA354446770GP9c.98G>A (p.Gly33Glu)
3g.129061837G>CCA354446771GP9c.98G>C (p.Gly33Ala)
3g.129061837G>TCA354446773GP9c.98G>T (p.Gly33Val)
3g.129061838G>ACA2602631GP9c.99G>A (p.Gly33=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.129061838G>CCA435766577GP9c.99G>C (p.Gly33=)
3g.129061838G=CA1401004674GP9c.99G= (p.Gly33=)
3g.129061838G>TCA435766578GP9c.99G>T (p.Gly33=)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.129061839C>ACA354446777GP9c.100C>A (p.Leu34Met)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.129061839C=CA1401004675GP9c.100C= (p.Leu34=)
3g.129061839C>GCA354446779GP9c.100C>G (p.Leu34Val)
3g.129061839C>TCA435766580GP9c.100C>T (p.Leu34=)
dbSNP gnomAD v4
3g.129061840T>ACA354446781GP9c.101T>A (p.Leu34Gln)
3g.129061840T>CCA354446783GP9c.101T>C (p.Leu34Pro)
3g.129061840T>GCA354446785GP9c.101T>G (p.Leu34Arg)
3g.129061841G>ACA2602632GP9c.102G>A (p.Leu34=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.129061841G>CCA435766582GP9c.102G>C (p.Leu34=)
3g.129061841G=CA1401004676GP9c.102G= (p.Leu34=)
3g.129061841G>TCA435766581GP9c.102G>T (p.Leu34=)
3g.129061842T>ACA354446791GP9c.103T>A (p.Trp35Arg)
3g.129061842T>CCA354446790GP9c.103T>C (p.Trp35Arg)
3g.129061842T>GCA354446789GP9c.103T>G (p.Trp35Gly)
3g.129061843G>ACA354446793GP9c.104G>A (p.Trp35Ter)
gnomAD v4
3g.129061843G>CCA354446795GP9c.104G>C (p.Trp35Ser)
3g.129061843G>TCA354446800GP9c.104G>T (p.Trp35Leu)
3g.129061844G>ACA354446802GP9c.105G>A (p.Trp35Ter)
3g.129061844G>CCA354446804GP9c.105G>C (p.Trp35Cys)
3g.129061844G>TCA354446805GP9c.105G>T (p.Trp35Cys)
gnomAD v4
3g.129061845G>ACA354446809GP9c.106G>A (p.Val36Met)
dbSNP
3g.129061845G>CCA354446811GP9c.106G>C (p.Val36Leu)
3g.129061845G=CA1401004677GP9c.106G= (p.Val36=)
3g.129061845G>TCA354446815GP9c.106G>T (p.Val36Leu)
3g.129061846T>ACA354446818GP9c.107T>A (p.Val36Glu)
3g.129061846T>CCA354446820GP9c.107T>C (p.Val36Ala)
gnomAD v4
3g.129061846T>GCA354446822GP9c.107T>G (p.Val36Gly)
3g.129061847G>ACA2602633GP9c.108G>A (p.Val36=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.129061847G>CCA435766587GP9c.108G>C (p.Val36=)
3g.129061847G=CA1401004678GP9c.108G= (p.Val36=)
3g.129061847G>TCA435766588GP9c.108G>T (p.Val36=)
3g.129061848G>ACA354446833GP9c.109G>A (p.Asp37Asn)
3g.129061848G>CCA354446836GP9c.109G>C (p.Asp37His)
3g.129061848G>TCA354446830GP9c.109G>T (p.Asp37Tyr)
3g.129061849A=CA1401004679GP9c.110A= (p.Asp37=)
3g.129061849A>CCA354446839GP9c.110A>C (p.Asp37Ala)
3g.129061849A>GCA123175GP9c.110A>G (p.Asp37Gly)
ClinVar dbSNP
3g.129061849A>TCA354446847GP9c.110A>T (p.Asp37Val)
3g.129061850C>ACA354446850GP9c.111C>A (p.Asp37Glu)
3g.129061850C=CA1401004680GP9c.111C= (p.Asp37=)
3g.129061850C>GCA354446856GP9c.111C>G (p.Asp37Glu)
3g.129061850C>TCA435766591GP9c.111C>T (p.Asp37=)
dbSNP gnomAD v3 gnomAD v4
3g.129061851T>ACA354446859GP9c.112T>A (p.Cys38Ser)
3g.129061851T>CCA2602634GP9c.112T>C (p.Cys38Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.129061851T>GCA354446863GP9c.112T>G (p.Cys38Gly)
3g.129061851T=CA1401004681GP9c.112T= (p.Cys38=)
3g.129061852G>ACA354446867GP9c.113G>A (p.Cys38Tyr)
3g.129061852G>CCA354446871GP9c.113G>C (p.Cys38Ser)
3g.129061852G>TCA354446874GP9c.113G>T (p.Cys38Phe)
3g.129061853C>ACA354446880GP9c.114C>A (p.Cys38Ter)
3g.129061853C>GCA354446883GP9c.114C>G (p.Cys38Trp)
3g.129061853C>TCA435766595GP9c.114C>T (p.Cys38=)
gnomAD v4 COSMIC
3g.129061854A=CA1401004682GP9c.115A= (p.Arg39=)
3g.129061854A>CCA435766599GP9c.115A>C (p.Arg39=)
3g.129061854A>GCA354446887GP9c.115A>G (p.Arg39Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.129061854A>TCA354446888GP9c.115A>T (p.Arg39Trp)
3g.129061855G>ACA354446890GP9c.116G>A (p.Arg39Lys)
3g.129061855G>CCA354446892GP9c.116G>C (p.Arg39Thr)
3g.129061855G>TCA354446893GP9c.116G>T (p.Arg39Met)
3g.129061858delCA658760376GP9c.119del (p.Gly40AlafsTer?)
ClinVar
3g.129061856G>ACA435766603GP9c.117G>A (p.Arg39=)
3g.129061856G>CCA354446895GP9c.117G>C (p.Arg39Ser)
gnomAD v4
3g.129061856G>TCA354446898GP9c.117G>T (p.Arg39Ser)
3g.129061857G>ACA82552186GP9c.118G>A (p.Gly40Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.129061857G>CCA354446903GP9c.118G>C (p.Gly40Arg)
3g.129061857G=CA1401004683GP9c.118G= (p.Gly40=)
3g.129061857G>TCA354446907GP9c.118G>T (p.Gly40Cys)
3g.129061858G>ACA2602635GP9c.119G>A (p.Gly40Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.129061858G>CCA354446910GP9c.119G>C (p.Gly40Ala)
3g.129061858G=CA1401004684GP9c.119G= (p.Gly40=)
3g.129061858G>TCA354446912GP9c.119G>T (p.Gly40Val)
gnomAD v4
3g.129061859C>ACA435766614GP9c.120C>A (p.Gly40=)
3g.129061859C>GCA435766610GP9c.120C>G (p.Gly40=)
3g.129061859C>TCA435766612GP9c.120C>T (p.Gly40=)
3g.129061860delCA2667574788GP9c.121del (p.His41ThrfsTer?)
gnomAD v4
3g.129061860C>ACA354446919GP9c.121C>A (p.His41Asn)
COSMIC
3g.129061860C>GCA354446917GP9c.121C>G (p.His41Asp)
3g.129061860C>TCA354446915GP9c.121C>T (p.His41Tyr)
3g.129061861A>CCA354446924GP9c.122A>C (p.His41Pro)
3g.129061861A>GCA354446929GP9c.122A>G (p.His41Arg)
3g.129061861A>TCA354446927GP9c.122A>T (p.His41Leu)
3g.129061862C>ACA354446933GP9c.123C>A (p.His41Gln)
3g.129061862C=CA1401004685GP9c.123C= (p.His41=)
3g.129061862C>GCA354446935GP9c.123C>G (p.His41Gln)
3g.129061862C>TCA2602636GP9c.123C>T (p.His41=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.129061863G>ACA2602637GP9c.124G>A (p.Gly42Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.129061863G>CCA354446941GP9c.124G>C (p.Gly42Arg)
3g.129061863G=CA1401004686GP9c.124G= (p.Gly42=)
3g.129061863G>TCA354446944GP9c.124G>T (p.Gly42Ter)
3g.129061863_129061865dupCA2667574789GP9c.124_126dup (p.Gly42_Leu43insGly)
gnomAD v4
3g.129061864G>ACA82552211GP9c.125G>A (p.Gly42Glu)
dbSNP gnomAD v4 COSMIC
3g.129061864G>CCA354446948GP9c.125G>C (p.Gly42Ala)
3g.129061864G=CA1401004687GP9c.125G= (p.Gly42=)
3g.129061864G>TCA354446951GP9c.125G>T (p.Gly42Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.129061865A>CCA435766631GP9c.126A>C (p.Gly42=)
3g.129061865A>GCA435766629GP9c.126A>G (p.Gly42=)
gnomAD v4
3g.129061865A>TCA435766630GP9c.126A>T (p.Gly42=)
3g.129061866C>ACA354446954GP9c.127C>A (p.Leu43Ile)
3g.129061866C>GCA354446957GP9c.127C>G (p.Leu43Val)
3g.129061866C>TCA354446960GP9c.127C>T (p.Leu43Phe)
3g.129061866_129061867insACAACCAACCAAACACACCCACA2758355601GP9c.127_128insACAACCAACCAAACACACCCA (p.Leu43delinsHisAsnGlnProAsnThrProIle)
3g.129061867T>ACA354446964GP9c.128T>A (p.Leu43His)
3g.129061867T>CCA354446976GP9c.128T>C (p.Leu43Pro)
3g.129061867T>GCA354446973GP9c.128T>G (p.Leu43Arg)
3g.129061868C>ACA435766639GP9c.129C>A (p.Leu43=)
3g.129061868C>GCA435766641GP9c.129C>G (p.Leu43=)
3g.129061868C>TCA435766637GP9c.129C>T (p.Leu43=)
3g.129061869A=CA1401004688GP9c.130A= (p.Thr44=)
3g.129061869A>CCA354446979GP9c.130A>C (p.Thr44Pro)
3g.129061869A>GCA354446982GP9c.130A>G (p.Thr44Ala)
3g.129061869A>TCA354446986GP9c.130A>T (p.Thr44Ser)
3g.129061870C>ACA354446990GP9c.131C>A (p.Thr44Lys)
gnomAD v4 COSMIC
3g.129061870C=CA1400981599GP9c.131C= (p.Thr44=)
3g.129061870C>GCA354446992GP9c.131C>G (p.Thr44Arg)
3g.129061870C>TCA2602638GP9c.131C>T (p.Thr44Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.129061871_129061879dupCA2667574790GP9c.132_140dup (p.Pro47_Ala48insAlaLeuPro)
gnomAD v4
3g.129061876_129061893dupCA1400981600GP9c.137_154dup (p.Ala51_Arg52insLeuProAlaLeuProAla)
dbSNP
3g.129061871G>ACA2602639GP9c.132G>A (p.Thr44=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.129061871G>CCA435766645GP9c.132G>C (p.Thr44=)
dbSNP gnomAD v4
3g.129061871G=CA1400981601GP9c.132G= (p.Thr44=)
3g.129061871G>TCA435766646GP9c.132G>T (p.Thr44=)
3g.129061872G>ACA354446996GP9c.133G>A (p.Ala45Thr)
3g.129061872G>CCA354446999GP9c.133G>C (p.Ala45Pro)
3g.129061872G>TCA354447005GP9c.133G>T (p.Ala45Ser)
3g.129061873C>ACA354447011GP9c.134C>A (p.Ala45Asp)
3g.129061873C>GCA354447013GP9c.134C>G (p.Ala45Gly)
3g.129061873C>TCA354447008GP9c.134C>T (p.Ala45Val)
3g.129061874C>ACA435766649GP9c.135C>A (p.Ala45=)
3g.129061874C=CA1400981602GP9c.135C= (p.Ala45=)
3g.129061874C>GCA435766647GP9c.135C>G (p.Ala45=)
3g.129061874C>TCA435766648GP9c.135C>T (p.Ala45=)
dbSNP gnomAD v2 gnomAD v4
3g.129061875C>ACA354447016GP9c.136C>A (p.Leu46Met)
dbSNP gnomAD v4
3g.129061875C=CA1400981603GP9c.136C= (p.Leu46=)
3g.129061875C>GCA354447028GP9c.136C>G (p.Leu46Val)
3g.129061875C>TCA435766651GP9c.136C>T (p.Leu46=)
3g.129061876T>ACA354447031GP9c.137T>A (p.Leu46Gln)
3g.129061876T>CCA354447032GP9c.137T>C (p.Leu46Pro)
3g.129061876T>GCA354447033GP9c.137T>G (p.Leu46Arg)
3g.129061877G>ACA435766655GP9c.138G>A (p.Leu46=)
3g.129061877G>CCA435766658GP9c.138G>C (p.Leu46=)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.129061877G=CA1400981604GP9c.138G= (p.Leu46=)
3g.129061877G>TCA435766657GP9c.138G>T (p.Leu46=)
3g.129061878C>ACA354447038GP9c.139C>A (p.Pro47Thr)
3g.129061878C=CA1400981605GP9c.139C= (p.Pro47=)
3g.129061878C>GCA354447034GP9c.139C>G (p.Pro47Ala)
3g.129061878C>TCA82552232GP9c.139C>T (p.Pro47Ser)
dbSNP gnomAD v3 gnomAD v4
3g.129061879C>ACA354447041GP9c.140C>A (p.Pro47His)
3g.129061879C>GCA354447043GP9c.140C>G (p.Pro47Arg)
3g.129061879C>TCA354447046GP9c.140C>T (p.Pro47Leu)
3g.129061880T>ACA435766662GP9c.141T>A (p.Pro47=)
3g.129061880T>CCA82552233GP9c.141T>C (p.Pro47=)
dbSNP gnomAD v4
3g.129061880T>GCA435766661GP9c.141T>G (p.Pro47=)
3g.129061880T=CA1400981606GP9c.141T= (p.Pro47=)

Number of alleles fetched