Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.71481895_71481915delCA2576999460DYSFc.161_181del (p.Leu54_Asp60del)
c.164_184del (p.Leu55_Asp61del)
n.322_342del
2g.71481900G>ACA347216292DYSFc.166G>A (p.Gly56Ser)
c.169G>A (p.Gly57Ser)
n.327G>A
 dbSNP gnomAD v4
2g.71481900G>CCA347216293DYSFc.166G>C (p.Gly56Arg)
c.169G>C (p.Gly57Arg)
n.327G>C
2g.71481900G=CA1260062174DYSFc.166G= (p.Gly56=)
c.169G= (p.Gly57=)
n.327G=
2g.71481900G>TCA347216294DYSFc.166G>T (p.Gly56Cys)
c.169G>T (p.Gly57Cys)
n.327G>T
2g.71481901G>ACA347216295DYSFc.167G>A (p.Gly56Asp)
c.170G>A (p.Gly57Asp)
n.328G>A
 ClinVar dbSNP gnomAD v4
2g.71481901G>CCA347216296DYSFc.167G>C (p.Gly56Ala)
c.170G>C (p.Gly57Ala)
n.328G>C
2g.71481901G>TCA347216297DYSFc.167G>T (p.Gly56Val)
c.170G>T (p.Gly57Val)
n.328G>T
 gnomAD v4
2g.71481902C>ACA426699510DYSFc.168C>A (p.Gly56=)
c.171C>A (p.Gly57=)
n.329C>A
2g.71481902C>GCA426699511DYSFc.168C>G (p.Gly56=)
c.171C>G (p.Gly57=)
n.329C>G
2g.71481902C>TCA426699512DYSFc.168C>T (p.Gly56=)
c.171C>T (p.Gly57=)
n.329C>T
 COSMIC COSMIC
2g.71481903A=CA1260062175DYSFc.169A= (p.Ile57=)
c.172A= (p.Ile58=)
n.330A=
2g.71481903A>CCA347216300DYSFc.169A>C (p.Ile57Leu)
c.172A>C (p.Ile58Leu)
n.330A>C
2g.71481903A>GCA347216302DYSFc.169A>G (p.Ile57Val)
c.172A>G (p.Ile58Val)
n.330A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71481903A>TCA347216303DYSFc.169A>T (p.Ile57Phe)
c.172A>T (p.Ile58Phe)
n.330A>T
 gnomAD v4
2g.71481904T>ACA347216310DYSFc.170T>A (p.Ile57Asn)
c.173T>A (p.Ile58Asn)
n.331T>A
 dbSNP gnomAD v2 gnomAD v4
2g.71481904T>CCA347216307DYSFc.170T>C (p.Ile57Thr)
c.173T>C (p.Ile58Thr)
n.331T>C
 gnomAD v4
2g.71481904T>GCA347216308DYSFc.170T>G (p.Ile57Ser)
c.173T>G (p.Ile58Ser)
n.331T>G
2g.71481904T=CA1260062176DYSFc.170T= (p.Ile57=)
c.173T= (p.Ile58=)
n.331T=
2g.71481904_71481905delinsTCCA1260062177DYSFc.170_171delinsTC (p.Ile57=)
c.173_174delinsTC (p.Ile58=)
n.331_332delinsTC
2g.71481905C>ACA426699513DYSFc.171C>A (p.Ile57=)
c.174C>A (p.Ile58=)
n.332C>A
 ClinVar dbSNP gnomAD v4
2g.71481905C=CA1260062178DYSFc.171C= (p.Ile57=)
c.174C= (p.Ile58=)
n.332C=
2g.71481905C>GCA347216313DYSFc.171C>G (p.Ile57Met)
c.174C>G (p.Ile58Met)
n.332C>G
 dbSNP
2g.71481905C>TCA426699514DYSFc.171C>T (p.Ile57=)
c.174C>T (p.Ile58=)
n.332C>T
 dbSNP gnomAD v4 COSMIC COSMIC
2g.71481909delCA426699515DYSFc.175del (p.Leu59TrpfsTer?)
c.178del (p.Leu60TrpfsTer?)
n.336del
 ClinVar dbSNP COSMIC COSMIC
2g.71481906C>ACA347216317DYSFc.172C>A (p.Pro58Thr)
c.175C>A (p.Pro59Thr)
n.333C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.71481906C=CA1260062179DYSFc.172C= (p.Pro58=)
c.175C= (p.Pro59=)
n.333C=
2g.71481906C>GCA347216318DYSFc.172C>G (p.Pro58Ala)
c.175C>G (p.Pro59Ala)
n.333C>G
2g.71481906C>TCA347216321DYSFc.172C>T (p.Pro58Ser)
c.175C>T (p.Pro59Ser)
n.333C>T
 dbSNP gnomAD v4
2g.71481906_71481911dupCA1705248DYSFc.172_177dup (p.Leu59_Asp60insProLeu)
c.175_180dup (p.Leu60_Asp61insProLeu)
n.333_338dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71481907C>ACA347216322DYSFc.173C>A (p.Pro58His)
c.176C>A (p.Pro59His)
n.334C>A
2g.71481907C=CA1260062180DYSFc.173C= (p.Pro58=)
c.176C= (p.Pro59=)
n.334C=
2g.71481907C>GCA347216323DYSFc.173C>G (p.Pro58Arg)
c.176C>G (p.Pro59Arg)
n.334C>G
 ClinVar
2g.71481907C>TCA1705249DYSFc.173C>T (p.Pro58Leu)
c.176C>T (p.Pro59Leu)
n.334C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.71481908C>ACA426699517DYSFc.174C>A (p.Pro58=)
c.177C>A (p.Pro59=)
n.335C>A
2g.71481908C=CA1260062181DYSFc.174C= (p.Pro58=)
c.177C= (p.Pro59=)
n.335C=
2g.71481908C>GCA426699518DYSFc.174C>G (p.Pro58=)
c.177C>G (p.Pro59=)
n.335C>G
2g.71481908C>TCA426699516DYSFc.174C>T (p.Pro58=)
c.177C>T (p.Pro59=)
n.335C>T
 ClinVar dbSNP gnomAD v4
2g.71481909C>ACA347216325DYSFc.175C>A (p.Leu59Met)
c.178C>A (p.Leu60Met)
n.336C>A
2g.71481909C>GCA347216327DYSFc.175C>G (p.Leu59Val)
c.178C>G (p.Leu60Val)
n.336C>G
 gnomAD v4
2g.71481909C>TCA426699519DYSFc.175C>T (p.Leu59=)
c.178C>T (p.Leu60=)
n.336C>T
2g.71481910delCA2499216199DYSFc.176del (p.Leu59ArgfsTer?)
c.179del (p.Leu60ArgfsTer?)
n.337del
 ClinVar dbSNP
2g.71481910T>ACA347216330DYSFc.176T>A (p.Leu59Gln)
c.179T>A (p.Leu60Gln)
n.337T>A
2g.71481910T>CCA347216331DYSFc.176T>C (p.Leu59Pro)
c.179T>C (p.Leu60Pro)
n.337T>C
2g.71481910T>GCA347216332DYSFc.176T>G (p.Leu59Arg)
c.179T>G (p.Leu60Arg)
n.337T>G
2g.71481911G>ACA426699520DYSFc.177G>A (p.Leu59=)
c.180G>A (p.Leu60=)
n.338G>A
 dbSNP
2g.71481911G>CCA426699521DYSFc.177G>C (p.Leu59=)
c.180G>C (p.Leu60=)
n.338G>C
2g.71481911G=CA1260062182DYSFc.177G= (p.Leu59=)
c.180G= (p.Leu60=)
n.338G=
2g.71481911G>TCA426699522DYSFc.177G>T (p.Leu59=)
c.180G>T (p.Leu60=)
n.338G>T
2g.71481912delCA2580067887DYSFc.178del (p.Asp60ThrfsTer?)
c.181del (p.Asp61ThrfsTer?)
n.339del
 ClinVar
2g.71481912G>ACA347216337DYSFc.178G>A (p.Asp60Asn)
c.181G>A (p.Asp61Asn)
n.339G>A
 gnomAD v4
2g.71481912G>CCA347216339DYSFc.178G>C (p.Asp60His)
c.181G>C (p.Asp61His)
n.339G>C
2g.71481912G>TCA347216335DYSFc.178G>T (p.Asp60Tyr)
c.181G>T (p.Asp61Tyr)
n.339G>T
2g.71481913A>CCA347216342DYSFc.179A>C (p.Asp60Ala)
c.182A>C (p.Asp61Ala)
n.340A>C
2g.71481913A>GCA347216346DYSFc.179A>G (p.Asp60Gly)
c.182A>G (p.Asp61Gly)
n.340A>G
2g.71481913A>TCA347216343DYSFc.179A>T (p.Asp60Val)
c.182A>T (p.Asp61Val)
n.340A>T
2g.71481914C>ACA347216348DYSFc.180C>A (p.Asp60Glu)
c.183C>A (p.Asp61Glu)
n.341C>A
2g.71481914C=CA1260062183DYSFc.180C= (p.Asp60=)
c.183C= (p.Asp61=)
n.341C=
2g.71481914C>GCA347216350DYSFc.180C>G (p.Asp60Glu)
c.183C>G (p.Asp61Glu)
n.341C>G
2g.71481914C>TCA1705250DYSFc.180C>T (p.Asp60=)
c.183C>T (p.Asp61=)
n.341C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71481915C>ACA347216354DYSFc.181C>A (p.Gln61Lys)
c.184C>A (p.Gln62Lys)
n.342C>A
 gnomAD v4
2g.71481915C=CA1260062184DYSFc.181C= (p.Gln61=)
c.184C= (p.Gln62=)
n.342C=
2g.71481915C>GCA347216356DYSFc.181C>G (p.Gln61Glu)
c.184C>G (p.Gln62Glu)
n.342C>G
 dbSNP gnomAD v2
2g.71481915C>TCA347216358DYSFc.181C>T (p.Gln61Ter)
c.184C>T (p.Gln62Ter)
n.342C>T
2g.71481916A=CA1260062185DYSFc.182A= (p.Gln61=)
c.185A= (p.Gln62=)
n.343A=
2g.71481916A>CCA347216361DYSFc.182A>C (p.Gln61Pro)
c.185A>C (p.Gln62Pro)
n.343A>C
2g.71481916A>GCA347216362DYSFc.182A>G (p.Gln61Arg)
c.185A>G (p.Gln62Arg)
n.343A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71481916A>TCA347216364DYSFc.182A>T (p.Gln61Leu)
c.185A>T (p.Gln62Leu)
n.343A>T
2g.71481917G>ACA426699523DYSFc.183G>A (p.Gln61=)
c.186G>A (p.Gln62=)
n.344G>A
2g.71481917G>CCA347216367DYSFc.183G>C (p.Gln61His)
c.186G>C (p.Gln62His)
n.344G>C
 gnomAD v4
2g.71481917G>TCA347216369DYSFc.183G>T (p.Gln61His)
c.186G>T (p.Gln62His)
n.344G>T
2g.71481918G>ACA347216375DYSFc.184G>A (p.Gly62Ser)
c.187G>A (p.Gly63Ser)
n.345G>A
 dbSNP gnomAD v2 gnomAD v4
2g.71481918G>CCA347216373DYSFc.184G>C (p.Gly62Arg)
c.187G>C (p.Gly63Arg)
n.345G>C
2g.71481918G=CA1260062186DYSFc.184G= (p.Gly62=)
c.187G= (p.Gly63=)
n.345G=
2g.71481918G>TCA347216371DYSFc.184G>T (p.Gly62Cys)
c.187G>T (p.Gly63Cys)
n.345G>T
2g.71481919G>ACA347216377DYSFc.185G>A (p.Gly62Asp)
c.188G>A (p.Gly63Asp)
n.346G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71481919G>CCA347216379DYSFc.185G>C (p.Gly62Ala)
c.188G>C (p.Gly63Ala)
n.346G>C
2g.71481919G=CA1260062187DYSFc.185G= (p.Gly62=)
c.188G= (p.Gly63=)
n.346G=
2g.71481919G>TCA347216381DYSFc.185G>T (p.Gly62Val)
c.188G>T (p.Gly63Val)
n.346G>T
 dbSNP gnomAD v4
2g.71481920C>ACA426699524DYSFc.186C>A (p.Gly62=)
c.189C>A (p.Gly63=)
n.347C>A
 gnomAD v4
2g.71481920C>GCA426699525DYSFc.186C>G (p.Gly62=)
c.189C>G (p.Gly63=)
n.347C>G
2g.71481920C>TCA426699526DYSFc.186C>T (p.Gly62=)
c.189C>T (p.Gly63=)
n.347C>T
 gnomAD v4
2g.71481921T>ACA347216383DYSFc.187T>A (p.Ser63Thr)
c.190T>A (p.Ser64Thr)
n.348T>A
2g.71481921T>CCA347216385DYSFc.187T>C (p.Ser63Pro)
c.190T>C (p.Ser64Pro)
n.348T>C
2g.71481921T>GCA347216386DYSFc.187T>G (p.Ser63Ala)
c.190T>G (p.Ser64Ala)
n.348T>G
2g.71481922C>ACA347216389DYSFc.188C>A (p.Ser63Tyr)
c.191C>A (p.Ser64Tyr)
n.349C>A
2g.71481922C=CA1260062188DYSFc.188C= (p.Ser63=)
c.191C= (p.Ser64=)
n.349C=
2g.71481922C>GCA347216390DYSFc.188C>G (p.Ser63Cys)
c.191C>G (p.Ser64Cys)
n.349C>G
2g.71481922C>TCA347216391DYSFc.188C>T (p.Ser63Phe)
c.191C>T (p.Ser64Phe)
n.349C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.71481923T>ACA426699527DYSFc.189T>A (p.Ser63=)
c.192T>A (p.Ser64=)
n.350T>A
2g.71481923T>CCA426699528DYSFc.189T>C (p.Ser63=)
c.192T>C (p.Ser64=)
n.350T>C
 gnomAD v4
2g.71481923T>GCA426699529DYSFc.189T>G (p.Ser63=)
c.192T>G (p.Ser64=)
n.350T>G
2g.71481924G>ACA347216392DYSFc.190G>A (p.Glu64Lys)
c.193G>A (p.Glu65Lys)
n.351G>A
2g.71481924G>CCA347216394DYSFc.190G>C (p.Glu64Gln)
c.193G>C (p.Glu65Gln)
n.351G>C
2g.71481924G=CA1260062189DYSFc.190G= (p.Glu64=)
c.193G= (p.Glu65=)
n.351G=
2g.71481924G>TCA347216396DYSFc.190G>T (p.Glu64Ter)
c.193G>T (p.Glu65Ter)
n.351G>T
 ClinVar dbSNP
2g.71481925A=CA1260062190DYSFc.191A= (p.Glu64=)
c.194A= (p.Glu65=)
n.352A=
2g.71481925A>CCA347216402DYSFc.191A>C (p.Glu64Ala)
c.194A>C (p.Glu65Ala)
n.352A>C
2g.71481925A>GCA347216400DYSFc.191A>G (p.Glu64Gly)
c.194A>G (p.Glu65Gly)
n.352A>G
 dbSNP gnomAD v3 gnomAD v4
2g.71481925A>TCA347216398DYSFc.191A>T (p.Glu64Val)
c.194A>T (p.Glu65Val)
n.352A>T
 gnomAD v4
2g.71481926G>ACA426699530DYSFc.192G>A (p.Glu64=)
c.195G>A (p.Glu65=)
n.353G>A
 ClinVar gnomAD v4
2g.71481926G>CCA347216404DYSFc.192G>C (p.Glu64Asp)
c.195G>C (p.Glu65Asp)
n.353G>C
2g.71481926G>TCA347216406DYSFc.192G>T (p.Glu64Asp)
c.195G>T (p.Glu65Asp)
n.353G>T
2g.71481927C>ACA347216408DYSFc.193C>A (p.Leu65Ile)
c.196C>A (p.Leu66Ile)
n.354C>A
2g.71481927C=CA1260062191DYSFc.193C= (p.Leu65=)
c.196C= (p.Leu66=)
n.354C=
2g.71481927C>GCA1705251DYSFc.193C>G (p.Leu65Val)
c.196C>G (p.Leu66Val)
n.354C>G
 dbSNP ExAC gnomAD v4
2g.71481927C>TCA347216412DYSFc.193C>T (p.Leu65Phe)
c.196C>T (p.Leu66Phe)
n.354C>T
2g.71481928T>ACA347216419DYSFc.194T>A (p.Leu65His)
c.197T>A (p.Leu66His)
n.355T>A
2g.71481928T>CCA347216417DYSFc.194T>C (p.Leu65Pro)
c.197T>C (p.Leu66Pro)
n.355T>C
2g.71481928T>GCA347216415DYSFc.194T>G (p.Leu65Arg)
c.197T>G (p.Leu66Arg)
n.355T>G
2g.71481929T>ACA426699532DYSFc.195T>A (p.Leu65=)
c.198T>A (p.Leu66=)
n.356T>A
2g.71481929T>CCA426699533DYSFc.195T>C (p.Leu65=)
c.198T>C (p.Leu66=)
n.356T>C
2g.71481929T>GCA426699531DYSFc.195T>G (p.Leu65=)
c.198T>G (p.Leu66=)
n.356T>G
2g.71481930C>ACA347216422DYSFc.196C>A (p.His66Asn)
c.199C>A (p.His67Asn)
n.357C>A
2g.71481930C>GCA347216424DYSFc.196C>G (p.His66Asp)
c.199C>G (p.His67Asp)
n.357C>G
2g.71481930C>TCA347216426DYSFc.196C>T (p.His66Tyr)
c.199C>T (p.His67Tyr)
n.357C>T
2g.71481931A>CCA347216429DYSFc.197A>C (p.His66Pro)
c.200A>C (p.His67Pro)
n.358A>C
 gnomAD v4
2g.71481931A>GCA347216430DYSFc.197A>G (p.His66Arg)
c.200A>G (p.His67Arg)
n.358A>G
 gnomAD v4
2g.71481931A>TCA347216432DYSFc.197A>T (p.His66Leu)
c.200A>T (p.His67Leu)
n.358A>T
2g.71481932T>ACA347216435DYSFc.198T>A (p.His66Gln)
c.201T>A (p.His67Gln)
n.359T>A
2g.71481932T>CCA1705252DYSFc.198T>C (p.His66=)
c.201T>C (p.His67=)
n.359T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71481932T>GCA347216437DYSFc.198T>G (p.His66Gln)
c.201T>G (p.His67Gln)
n.359T>G
2g.71481932T=CA1260062192DYSFc.198T= (p.His66=)
c.201T= (p.His67=)
n.359T=
2g.71481933G>ACA347216441DYSFc.199G>A (p.Val67Met)
c.202G>A (p.Val68Met)
n.360G>A
2g.71481933G>CCA347216443DYSFc.199G>C (p.Val67Leu)
c.202G>C (p.Val68Leu)
n.360G>C
2g.71481933G=CA1260062193DYSFc.199G= (p.Val67=)
c.202G= (p.Val68=)
n.360G=
2g.71481933G>TCA49751068DYSFc.199G>T (p.Val67Leu)
c.202G>T (p.Val68Leu)
n.360G>T
 dbSNP
2g.71481934T>ACA347216446DYSFc.200T>A (p.Val67Glu)
c.203T>A (p.Val68Glu)
n.361T>A
2g.71481934T>CCA347216448DYSFc.200T>C (p.Val67Ala)
c.203T>C (p.Val68Ala)
n.361T>C
2g.71481934T>GCA347216450DYSFc.200T>G (p.Val67Gly)
c.203T>G (p.Val68Gly)
n.361T>G
2g.71481934_71481935delinsATCA253907DYSFc.200_201delinsAT (p.Val67Asp)
c.203_204delinsAT (p.Val68Asp)
n.361_362delinsAT
 ClinVar dbSNP
2g.71481934_71481935delinsTGCA1260062194DYSFc.200_201delinsTG (p.Val67=)
c.203_204delinsTG (p.Val68=)
n.361_362delinsTG
2g.71481935G>ACA426699534DYSFc.201G>A (p.Val67=)
c.204G>A (p.Val68=)
n.362G>A
 gnomAD v4
2g.71481935G>CCA426699535DYSFc.201G>C (p.Val67=)
c.204G>C (p.Val68=)
n.362G>C
2g.71481935G>TCA426699536DYSFc.201G>T (p.Val67=)
c.204G>T (p.Val68=)
n.362G>T
2g.71481936G>ACA1705254DYSFc.202G>A (p.Val68Met)
c.205G>A (p.Val69Met)
n.363G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71481936G>CCA1705253DYSFc.202G>C (p.Val68Leu)
c.205G>C (p.Val69Leu)
n.363G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71481936G=CA1260062195DYSFc.202G= (p.Val68=)
c.205G= (p.Val69=)
n.363G=
2g.71481936G>TCA347216455DYSFc.202G>T (p.Val68Leu)
c.205G>T (p.Val69Leu)
n.363G>T
2g.71481937T>ACA347216458DYSFc.203T>A (p.Val68Glu)
c.206T>A (p.Val69Glu)
n.364T>A
2g.71481937T>CCA347216461DYSFc.203T>C (p.Val68Ala)
c.206T>C (p.Val69Ala)
n.364T>C
2g.71481937T>GCA347216460DYSFc.203T>G (p.Val68Gly)
c.206T>G (p.Val69Gly)
n.364T>G
2g.71481938G>ACA1705255DYSFc.204G>A (p.Val68=)
c.207G>A (p.Val69=)
n.365G>A
 dbSNP ExAC
2g.71481938G>CCA426699537DYSFc.204G>C (p.Val68=)
c.207G>C (p.Val69=)
n.365G>C
2g.71481938G=CA1260062196DYSFc.204G= (p.Val68=)
c.207G= (p.Val69=)
n.365G=
2g.71481938G>TCA426699538DYSFc.204G>T (p.Val68=)
c.207G>T (p.Val69=)
n.365G>T
2g.71481939G>ACA1705256DYSFc.205G>A (p.Val69Ile)
c.208G>A (p.Val70Ile)
n.366G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71481939G>CCA347216464DYSFc.205G>C (p.Val69Leu)
c.208G>C (p.Val70Leu)
n.366G>C
 dbSNP gnomAD v3 gnomAD v4
2g.71481939G=CA1260062197DYSFc.205G= (p.Val69=)
c.208G= (p.Val70=)
n.366G=
2g.71481939G>TCA347216467DYSFc.205G>T (p.Val69Phe)
c.208G>T (p.Val70Phe)
n.366G>T
2g.71481940T>ACA347216470DYSFc.206T>A (p.Val69Asp)
c.209T>A (p.Val70Asp)
n.367T>A
2g.71481940T>CCA347216473DYSFc.206T>C (p.Val69Ala)
c.209T>C (p.Val70Ala)
n.367T>C
2g.71481940T>GCA10604804DYSFc.206T>G (p.Val69Gly)
c.209T>G (p.Val70Gly)
n.367T>G
 ClinVar dbSNP
2g.71481940T=CA1260062198DYSFc.206T= (p.Val69=)
c.209T= (p.Val70=)
n.367T=
2g.71481941C>ACA426699539DYSFc.207C>A (p.Val69=)
c.210C>A (p.Val70=)
n.368C>A
2g.71481941C>GCA426699540DYSFc.207C>G (p.Val69=)
c.210C>G (p.Val70=)
n.368C>G
2g.71481941C>TCA426699541DYSFc.207C>T (p.Val69=)
c.210C>T (p.Val70=)
n.368C>T
2g.71481942A=CA1260062199DYSFc.208A= (p.Lys70=)
c.211A= (p.Lys71=)
n.369A=
2g.71481942A>CCA347216475DYSFc.208A>C (p.Lys70Gln)
c.211A>C (p.Lys71Gln)
n.369A>C
2g.71481942A>GCA49751124DYSFc.208A>G (p.Lys70Glu)
c.211A>G (p.Lys71Glu)
n.369A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71481942A>TCA347216476DYSFc.208A>T (p.Lys70Ter)
c.211A>T (p.Lys71Ter)
n.369A>T
2g.71481943A>CCA347216478DYSFc.209A>C (p.Lys70Thr)
c.212A>C (p.Lys71Thr)
n.370A>C
2g.71481943A>GCA347216480DYSFc.209A>G (p.Lys70Arg)
c.212A>G (p.Lys71Arg)
n.370A>G
2g.71481943A>TCA347216481DYSFc.209A>T (p.Lys70Ile)
c.212A>T (p.Lys71Ile)
n.370A>T
2g.71481944A>CCA347216484DYSFc.210A>C (p.Lys70Asn)
c.213A>C (p.Lys71Asn)
n.371A>C
2g.71481944A>GCA426699542DYSFc.210A>G (p.Lys70=)
c.213A>G (p.Lys71=)
n.371A>G
2g.71481944A>TCA347216485DYSFc.210A>T (p.Lys70Asn)
c.213A>T (p.Lys71Asn)
n.371A>T
2g.71481945G>ACA347216487DYSFc.211G>A (p.Asp71Asn)
c.214G>A (p.Asp72Asn)
n.372G>A
2g.71481945G>CCA347216489DYSFc.211G>C (p.Asp71His)
c.214G>C (p.Asp72His)
n.372G>C
2g.71481945G>TCA347216491DYSFc.211G>T (p.Asp71Tyr)
c.214G>T (p.Asp72Tyr)
n.372G>T
2g.71481946A>CCA347216498DYSFc.212A>C (p.Asp71Ala)
c.215A>C (p.Asp72Ala)
n.373A>C
2g.71481946A>GCA347216494DYSFc.212A>G (p.Asp71Gly)
c.215A>G (p.Asp72Gly)
n.373A>G
2g.71481946A>TCA347216496DYSFc.212A>T (p.Asp71Val)
c.215A>T (p.Asp72Val)
n.373A>T
2g.71481947C>ACA347216500DYSFc.213C>A (p.Asp71Glu)
c.216C>A (p.Asp72Glu)
n.374C>A
2g.71481947C=CA1260062200DYSFc.213C= (p.Asp71=)
c.216C= (p.Asp72=)
n.374C=
2g.71481947C>GCA347216501DYSFc.213C>G (p.Asp71Glu)
c.216C>G (p.Asp72Glu)
n.374C>G
2g.71481947C>TCA426699543DYSFc.213C>T (p.Asp71=)
c.216C>T (p.Asp72=)
n.374C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.71481948C>ACA347216503DYSFc.214C>A (p.His72Asn)
c.217C>A (p.His73Asn)
n.375C>A
2g.71481948C>GCA347216504DYSFc.214C>G (p.His72Asp)
c.217C>G (p.His73Asp)
n.375C>G
2g.71481948C>TCA347216506DYSFc.214C>T (p.His72Tyr)
c.217C>T (p.His73Tyr)
n.375C>T
2g.71481949A=CA1260062201DYSFc.215A= (p.His72=)
c.218A= (p.His73=)
n.376A=
2g.71481949A>CCA347216508DYSFc.215A>C (p.His72Pro)
c.218A>C (p.His73Pro)
n.376A>C
2g.71481949A>GCA1705257DYSFc.215A>G (p.His72Arg)
c.218A>G (p.His73Arg)
n.376A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71481949A>TCA347216513DYSFc.215A>T (p.His72Leu)
c.218A>T (p.His73Leu)
n.376A>T
2g.71481950T>ACA347216514DYSFc.216T>A (p.His72Gln)
c.219T>A (p.His73Gln)
n.377T>A
2g.71481950T>CCA426699544DYSFc.216T>C (p.His72=)
c.219T>C (p.His73=)
n.377T>C
2g.71481950T>GCA347216515DYSFc.216T>G (p.His72Gln)
c.219T>G (p.His73Gln)
n.377T>G
2g.71481950_71481951delinsCCCA2580067890DYSFc.216_217delinsCC (p.Glu73Gln)
c.219_220delinsCC (p.Glu74Gln)
n.377_378delinsCC
 ClinVar
2g.71481951G>ACA1705258DYSFc.217G>A (p.Glu73Lys)
c.220G>A (p.Glu74Lys)
n.378G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71481951G>CCA347216519DYSFc.217G>C (p.Glu73Gln)
c.220G>C (p.Glu74Gln)
n.378G>C
2g.71481951G=CA1260062202DYSFc.217G= (p.Glu73=)
c.220G= (p.Glu74=)
n.378G=
2g.71481951G>TCA347216517DYSFc.217G>T (p.Glu73Ter)
c.220G>T (p.Glu74Ter)
n.378G>T
2g.71481952A>CCA347216521DYSFc.218A>C (p.Glu73Ala)
c.221A>C (p.Glu74Ala)
n.379A>C
2g.71481952A>GCA347216523DYSFc.218A>G (p.Glu73Gly)
c.221A>G (p.Glu74Gly)
n.379A>G
2g.71481952A>TCA347216527DYSFc.218A>T (p.Glu73Val)
c.221A>T (p.Glu74Val)
n.379A>T
2g.71481953G>ACA426699545DYSFc.219G>A (p.Glu73=)
c.222G>A (p.Glu74=)
n.380G>A
2g.71481953G>CCA347216530DYSFc.219G>C (p.Glu73Asp)
c.222G>C (p.Glu74Asp)
n.380G>C
2g.71481953G>TCA347216531DYSFc.219G>T (p.Glu73Asp)
c.222G>T (p.Glu74Asp)
n.380G>T
2g.71481954A>CCA347216535DYSFc.220A>C (p.Thr74Pro)
c.223A>C (p.Thr75Pro)
n.381A>C
2g.71481954A>GCA347216533DYSFc.220A>G (p.Thr74Ala)
c.223A>G (p.Thr75Ala)
n.381A>G
2g.71481954A>TCA347216534DYSFc.220A>T (p.Thr74Ser)
c.223A>T (p.Thr75Ser)
n.381A>T
2g.71481955C>ACA347216536DYSFc.221C>A (p.Thr74Lys)
c.224C>A (p.Thr75Lys)
n.382C>A
2g.71481955C=CA1260062203DYSFc.221C= (p.Thr74=)
c.224C= (p.Thr75=)
n.382C=
2g.71481955C>GCA347216537DYSFc.221C>G (p.Thr74Arg)
c.224C>G (p.Thr75Arg)
n.382C>G
2g.71481955C>TCA1705259DYSFc.221C>T (p.Thr74Met)
c.224C>T (p.Thr75Met)
n.382C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.71481956G>ACA1705260DYSFc.222G>A (p.Thr74=)
c.225G>A (p.Thr75=)
n.383G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.71481956G>CCA426699546DYSFc.222G>C (p.Thr74=)
c.225G>C (p.Thr75=)
n.383G>C
2g.71481956G=CA1260062204DYSFc.222G= (p.Thr74=)
c.225G= (p.Thr75=)
n.383G=
2g.71481956G>TCA1705261DYSFc.222G>T (p.Thr74=)
c.225G>T (p.Thr75=)
n.383G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71481957A>CCA347216544DYSFc.223A>C (p.Met75Leu)
c.226A>C (p.Met76Leu)
n.384A>C
2g.71481957A>GCA347216549DYSFc.223A>G (p.Met75Val)
c.226A>G (p.Met76Val)
n.384A>G
2g.71481957A>TCA347216548DYSFc.223A>T (p.Met75Leu)
c.226A>T (p.Met76Leu)
n.384A>T
2g.71481958T>ACA347216550DYSFc.224T>A (p.Met75Lys)
c.227T>A (p.Met76Lys)
n.385T>A
2g.71481958T>CCA347216552DYSFc.224T>C (p.Met75Thr)
c.227T>C (p.Met76Thr)
n.385T>C
2g.71481958T>GCA347216553DYSFc.224T>G (p.Met75Arg)
c.227T>G (p.Met76Arg)
n.385T>G
2g.71481959G>ACA49751190DYSFc.225G>A (p.Met75Ile)
c.228G>A (p.Met76Ile)
n.386G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71481959G>CCA347216554DYSFc.225G>C (p.Met75Ile)
c.228G>C (p.Met76Ile)
n.386G>C
2g.71481959G=CA1260062205DYSFc.225G= (p.Met75=)
c.228G= (p.Met76=)
n.386G=
2g.71481959G>TCA347216555DYSFc.225G>T (p.Met75Ile)
c.228G>T (p.Met76Ile)
n.386G>T
2g.71481960G>ACA347216556DYSFc.226G>A (p.Gly76Arg)
c.229G>A (p.Gly77Arg)
n.387G>A
 ClinVar
2g.71481960G>CCA347216557DYSFc.226G>C (p.Gly76Arg)
c.229G>C (p.Gly77Arg)
n.387G>C
2g.71481960G>TCA347216558DYSFc.226G>T (p.Gly76Trp)
c.229G>T (p.Gly77Trp)
n.387G>T
2g.71481961G>ACA347216559DYSFc.227G>A (p.Gly76Glu)
c.230G>A (p.Gly77Glu)
n.388G>A
2g.71481961G>CCA347216560DYSFc.227G>C (p.Gly76Ala)
c.230G>C (p.Gly77Ala)
n.388G>C
 gnomAD v4
2g.71481961G>TCA347216561DYSFc.227G>T (p.Gly76Val)
c.230G>T (p.Gly77Val)
n.388G>T
 gnomAD v4
2g.71481962G>ACA426699550DYSFc.228G>A (p.Gly76=)
c.231G>A (p.Gly77=)
n.389G>A
 ClinVar dbSNP gnomAD v4
2g.71481962G>CCA426699551DYSFc.228G>C (p.Gly76=)
c.231G>C (p.Gly77=)
n.389G>C
2g.71481962G=CA1260062206DYSFc.228G= (p.Gly76=)
c.231G= (p.Gly77=)
n.389G=
2g.71481962G>TCA426699549DYSFc.228G>T (p.Gly76=)
c.231G>T (p.Gly77=)
n.389G>T
2g.71481963A=CA1260062207DYSFc.229A= (p.Arg77=)
c.232A= (p.Arg78=)
n.390A=
2g.71481963A>CCA426699552DYSFc.229A>C (p.Arg77=)
c.232A>C (p.Arg78=)
n.390A>C
2g.71481963A>GCA347216563DYSFc.229A>G (p.Arg77Gly)
c.232A>G (p.Arg78Gly)
n.390A>G
 dbSNP gnomAD v2 gnomAD v4
2g.71481963A>TCA347216562DYSFc.229A>T (p.Arg77Trp)
c.232A>T (p.Arg78Trp)
n.390A>T
2g.71481964G>ACA1705262DYSFc.230G>A (p.Arg77Lys)
c.233G>A (p.Arg78Lys)
n.391G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.71481964G>CCA347216565DYSFc.230G>C (p.Arg77Thr)
c.233G>C (p.Arg78Thr)
n.391G>C
2g.71481964G=CA1260062208DYSFc.230G= (p.Arg77=)
c.233G= (p.Arg78=)
n.391G=
2g.71481964G>TCA347216564DYSFc.230G>T (p.Arg77Met)
c.233G>T (p.Arg78Met)
n.391G>T
 dbSNP gnomAD v2 gnomAD v4
2g.71481965G>ACA1705263DYSFc.231G>A (p.Arg77=)
c.234G>A (p.Arg78=)
n.392G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71481965G>CCA347216566DYSFc.231G>C (p.Arg77Ser)
c.234G>C (p.Arg78Ser)
n.392G>C
2g.71481965G=CA1260062209DYSFc.231G= (p.Arg77=)
c.234G= (p.Arg78=)
n.392G=
2g.71481965G>TCA347216567DYSFc.231G>T (p.Arg77Ser)
c.234G>T (p.Arg78Ser)
n.392G>T
2g.71481966A>CCA347216569DYSFc.232A>C (p.Asn78His)
c.235A>C (p.Asn79His)
n.393A>C
2g.71481966A>GCA347216570DYSFc.232A>G (p.Asn78Asp)
c.235A>G (p.Asn79Asp)
n.393A>G
2g.71481966A>TCA347216571DYSFc.232A>T (p.Asn78Tyr)
c.235A>T (p.Asn79Tyr)
n.393A>T
 gnomAD v4
2g.71481967A>CCA347216574DYSFc.233A>C (p.Asn78Thr)
c.236A>C (p.Asn79Thr)
n.394A>C
2g.71481967A>GCA347216575DYSFc.233A>G (p.Asn78Ser)
c.236A>G (p.Asn79Ser)
n.394A>G
2g.71481967A>TCA347216576DYSFc.233A>T (p.Asn78Ile)
c.236A>T (p.Asn79Ile)
n.394A>T
2g.71481968C>ACA347216578DYSFc.234C>A (p.Asn78Lys)
c.237C>A (p.Asn79Lys)
n.395C>A
2g.71481968C>GCA347216580DYSFc.234C>G (p.Asn78Lys)
c.237C>G (p.Asn79Lys)
n.395C>G
2g.71481968C>TCA426699554DYSFc.234C>T (p.Asn78=)
c.237C>T (p.Asn79=)
n.395C>T
2g.71481969A>CCA426699555DYSFc.235A>C (p.Arg79=)
c.238A>C (p.Arg80=)
n.396A>C
 gnomAD v4
2g.71481969A>GCA347216582DYSFc.235A>G (p.Arg79Gly)
c.238A>G (p.Arg80Gly)
n.396A>G
2g.71481969A>TCA347216584DYSFc.235A>T (p.Arg79Trp)
c.238A>T (p.Arg80Trp)
n.396A>T
2g.71481970G>ACA347216585DYSFc.236G>A (p.Arg79Lys)
c.239G>A (p.Arg80Lys)
n.397G>A
 gnomAD v4
2g.71481970G>CCA347216587DYSFc.236G>C (p.Arg79Thr)
c.239G>C (p.Arg80Thr)
n.397G>C
2g.71481970G=CA1260062210DYSFc.236G= (p.Arg79=)
c.239G= (p.Arg80=)
n.397G=
2g.71481970G>TCA347216586DYSFc.236G>T (p.Arg79Met)
c.239G>T (p.Arg80Met)
n.397G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71481971G>ACA347216589DYSFc.236+1G>A (n.236+1G>A)
c.239+1G>A (n.239+1G>A)
n.397+1G>A
 gnomAD v4
2g.71481971G>CCA347216590DYSFc.236+1G>C (n.236+1G>C)
c.239+1G>C (n.239+1G>C)
n.397+1G>C
2g.71481971G>TCA347216591DYSFc.236+1G>T (n.236+1G>T)
c.239+1G>T (n.239+1G>T)
n.397+1G>T
 gnomAD v4
2g.71481972T>ACA347216593DYSFc.236+2T>A (n.236+2T>A)
c.239+2T>A (n.239+2T>A)
n.397+2T>A
2g.71481972T>CCA347216596DYSFc.236+2T>C (n.236+2T>C)
c.239+2T>C (n.239+2T>C)
n.397+2T>C
2g.71481972T>GCA347216598DYSFc.236+2T>G (n.236+2T>G)
c.239+2T>G (n.239+2T>G)
n.397+2T>G
 gnomAD v4
2g.71481975G=CA1260062211DYSFc.236+5G= (n.236+5G=)
c.239+5G= (n.239+5G=)
n.397+5G=
2g.71481975G>TCA1705264DYSFc.236+5G>T (n.236+5G>T)
c.239+5G>T (n.239+5G>T)
n.397+5G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71481976G>ACA1260062213DYSFc.236+6G>A (n.236+6G>A)
c.239+6G>A (n.239+6G>A)
n.397+6G>A
 dbSNP
2g.71481976G=CA1260062212DYSFc.236+6G= (n.236+6G=)
c.239+6G= (n.239+6G=)
n.397+6G=
2g.71481976G>TCA2659543031DYSFc.236+6G>T (n.236+6G>T)
c.239+6G>T (n.239+6G>T)
n.397+6G>T
 gnomAD v4
2g.71481977T>ACA2739274503DYSFc.236+7T>A (n.236+7T>A)
c.239+7T>A (n.239+7T>A)
n.397+7T>A
 ClinVar
2g.71481977T>GCA2576999461DYSFc.236+7T>G (n.236+7T>G)
c.239+7T>G (n.239+7T>G)
n.397+7T>G
 ClinVar gnomAD v4
2g.71481978G>ACA49751204DYSFc.236+8G>A (n.236+8G>A)
c.239+8G>A (n.239+8G>A)
n.397+8G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71481978G=CA1260062214DYSFc.236+8G= (n.236+8G=)
c.239+8G= (n.239+8G=)
n.397+8G=
2g.71481980C>ACA2659543033DYSFc.236+10C>A (n.236+10C>A)
c.239+10C>A (n.239+10C>A)
n.397+10C>A
 gnomAD v4
2g.71481980C=CA1260062215DYSFc.236+10C= (n.236+10C=)
c.239+10C= (n.239+10C=)
n.397+10C=
2g.71481980C>TCA533256134DYSFc.236+10C>T (n.236+10C>T)
c.239+10C>T (n.239+10C>T)
n.397+10C>T
 dbSNP gnomAD v2 gnomAD v4
2g.71481981delCA2659543032DYSFc.236+11del (n.236+11del)
c.239+11del (n.239+11del)
n.397+11del
 gnomAD v4
2g.71481981C>ACA2576999462DYSFc.236+11C>A (n.236+11C>A)
c.239+11C>A (n.239+11C>A)
n.397+11C>A
2g.71481982delCA2750412910DYSFc.236+12del (n.236+12del)
c.239+12del (n.239+12del)
n.397+12del
2g.71481984delCA2659543034DYSFc.236+14del (n.236+14del)
c.239+14del (n.239+14del)
n.397+14del
 gnomAD v4
2g.71481984A=CA1260062217DYSFc.236+14A= (n.236+14A=)
c.239+14A= (n.239+14A=)
n.397+14A=
2g.71481984A>GCA1705265DYSFc.236+14A>G (n.236+14A>G)
c.239+14A>G (n.239+14A>G)
n.397+14A>G
 dbSNP ExAC
2g.71481984A>TCA2740095640DYSFc.236+14A>T (n.236+14A>T)
c.239+14A>T (n.239+14A>T)
n.397+14A>T
 ClinVar
2g.71481984_71481985delinsAGCA1260062216DYSFc.236+14_236+15delinsAG (n.236+14_236+15delinsAG)
c.239+14_239+15delinsAG (n.239+14_239+15delinsAG)
n.397+14_397+15delinsAG
2g.71481985G>ACA1705268DYSFc.236+15G>A (n.236+15G>A)
c.239+15G>A (n.239+15G>A)
n.397+15G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.71481985G>CCA1705267DYSFc.236+15G>C (n.236+15G>C)
c.239+15G>C (n.239+15G>C)
n.397+15G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71481985G=CA1260062218DYSFc.236+15G= (n.236+15G=)
c.239+15G= (n.239+15G=)
n.397+15G=
2g.71481985G>TCA2659543035DYSFc.236+15G>T (n.236+15G>T)
c.239+15G>T (n.239+15G>T)
n.397+15G>T
 ClinVar gnomAD v4
2g.71481990delCA1705266DYSFc.236+20del (n.236+20del)
c.239+20del (n.239+20del)
n.397+20del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.71481986G>ACA1705271DYSFc.236+16G>A (n.236+16G>A)
c.239+16G>A (n.239+16G>A)
n.397+16G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71481986G>CCA1705270DYSFc.236+16G>C (n.236+16G>C)
c.239+16G>C (n.239+16G>C)
n.397+16G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71481986G=CA1260062219DYSFc.236+16G= (n.236+16G=)
c.239+16G= (n.239+16G=)
n.397+16G=
2g.71481986G>TCA1705269DYSFc.236+16G>T (n.236+16G>T)
c.239+16G>T (n.239+16G>T)
n.397+16G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71481987G>ACA2576999463DYSFc.236+17G>A (n.236+17G>A)
c.239+17G>A (n.239+17G>A)
n.397+17G>A
 ClinVar gnomAD v4
2g.71481987G>CCA1705272DYSFc.236+17G>C (n.236+17G>C)
c.239+17G>C (n.239+17G>C)
n.397+17G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71481987G=CA1260062220DYSFc.236+17G= (n.236+17G=)
c.239+17G= (n.239+17G=)
n.397+17G=
2g.71481987G>TCA892693048DYSFc.236+17G>T (n.236+17G>T)
c.239+17G>T (n.239+17G>T)
n.397+17G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.71481988G>ACA2573135838DYSFc.236+18G>A (n.236+18G>A)
c.239+18G>A (n.239+18G>A)
n.397+18G>A
 ClinVar dbSNP gnomAD v4
2g.71481989G>ACA1705273DYSFc.236+19G>A (n.236+19G>A)
c.239+19G>A (n.239+19G>A)
n.397+19G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71481989G>CCA892693055DYSFc.236+19G>C (n.236+19G>C)
c.239+19G>C (n.239+19G>C)
n.397+19G>C
 dbSNP gnomAD v4
2g.71481989G=CA1260062221DYSFc.236+19G= (n.236+19G=)
c.239+19G= (n.239+19G=)
n.397+19G=
2g.71481989G>TCA2750412911DYSFc.236+19G>T (n.236+19G>T)
c.239+19G>T (n.239+19G>T)
n.397+19G>T
2g.71481990G>ACA147733DYSFc.236+20G>A (n.236+20G>A)
c.239+20G>A (n.239+20G>A)
n.397+20G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71481990G>CCA2581778138DYSFc.236+20G>C (n.236+20G>C)
c.239+20G>C (n.239+20G>C)
n.397+20G>C
 gnomAD v4
2g.71481990G=CA1260062222DYSFc.236+20G= (n.236+20G=)
c.239+20G= (n.239+20G=)
n.397+20G=
2g.71481990G>TCA1705274DYSFc.236+20G>T (n.236+20G>T)
c.239+20G>T (n.239+20G>T)
n.397+20G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71481992G>ACA2576999464DYSFc.236+22G>A (n.236+22G>A)
c.239+22G>A (n.239+22G>A)
n.397+22G>A
 gnomAD v4
2g.71481993C=CA1260062223DYSFc.236+23C= (n.236+23C=)
c.239+23C= (n.239+23C=)
n.397+23C=
2g.71481993C>TCA533256137DYSFc.236+23C>T (n.236+23C>T)
c.239+23C>T (n.239+23C>T)
n.397+23C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71481994T>ACA533256138DYSFc.236+24T>A (n.236+24T>A)
c.239+24T>A (n.239+24T>A)
n.397+24T>A
 dbSNP gnomAD v2 gnomAD v4
2g.71481994T=CA1260062224DYSFc.236+24T= (n.236+24T=)
c.239+24T= (n.239+24T=)
n.397+24T=
2g.71481995C>ACA2659543036DYSFc.236+25C>A (n.236+25C>A)
c.239+25C>A (n.239+25C>A)
n.397+25C>A
 gnomAD v4
2g.71481995C=CA1260062225DYSFc.236+25C= (n.236+25C=)
c.239+25C= (n.239+25C=)
n.397+25C=
2g.71481995C>GCA533256139DYSFc.236+25C>G (n.236+25C>G)
c.239+25C>G (n.239+25C>G)
n.397+25C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71481996C>ACA2659543037DYSFc.236+26C>A (n.236+26C>A)
c.239+26C>A (n.239+26C>A)
n.397+26C>A
 gnomAD v4
2g.71481996C=CA1260062226DYSFc.236+26C= (n.236+26C=)
c.239+26C= (n.239+26C=)
n.397+26C=
2g.71481996C>TCA1705275DYSFc.236+26C>T (n.236+26C>T)
c.239+26C>T (n.239+26C>T)
n.397+26C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71481999G>ACA533256141DYSFc.236+29G>A (n.236+29G>A)
c.239+29G>A (n.239+29G>A)
n.397+29G>A
 dbSNP gnomAD v2 gnomAD v4
2g.71481999G>CCA1705276DYSFc.236+29G>C (n.236+29G>C)
c.239+29G>C (n.239+29G>C)
n.397+29G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71481999G=CA1260062227DYSFc.236+29G= (n.236+29G=)
c.239+29G= (n.239+29G=)
n.397+29G=
2g.71482000G>ACA2659543038DYSFc.236+30G>A (n.236+30G>A)
c.239+30G>A (n.239+30G>A)
n.397+30G>A
 gnomAD v4

Number of alleles fetched