Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.71513840_71522675delCA658795202DYSFc.582_1053+1771del
c.678_1149+1771del
c.585_1056+1771del
c.675_1146+1771del
n.836_1307+1771del
2g.71517028G>ACA253916DYSFc.895G>A (p.Gly299Arg)
c.991G>A (p.Gly331Arg)
c.898G>A (p.Gly300Arg)
c.988G>A (p.Gly330Arg)
n.1149G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71517028G>CCA49761605DYSFc.895G>C (p.Gly299Arg)
c.991G>C (p.Gly331Arg)
c.898G>C (p.Gly300Arg)
c.988G>C (p.Gly330Arg)
n.1149G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.71517028G=CA1260078935DYSFc.895G= (p.Gly299=)
c.991G= (p.Gly331=)
c.898G= (p.Gly300=)
c.988G= (p.Gly330=)
n.1149G=
2g.71517028G>TCA253918DYSFc.895G>T (p.Gly299Trp)
c.991G>T (p.Gly331Trp)
c.898G>T (p.Gly300Trp)
c.988G>T (p.Gly330Trp)
n.1149G>T
 ClinVar dbSNP gnomAD v4
2g.71517031delCA2580067842DYSFc.898del (p.Glu300SerfsTer?)
c.994del (p.Glu332SerfsTer?)
c.901del (p.Glu301SerfsTer?)
c.991del (p.Glu331SerfsTer?)
n.1152del
 ClinVar
2g.71517029G>ACA347210280DYSFc.896G>A (p.Gly299Glu)
c.992G>A (p.Gly331Glu)
c.899G>A (p.Gly300Glu)
c.989G>A (p.Gly330Glu)
n.1150G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71517029G>CCA347210282DYSFc.896G>C (p.Gly299Ala)
c.992G>C (p.Gly331Ala)
c.899G>C (p.Gly300Ala)
c.989G>C (p.Gly330Ala)
n.1150G>C
2g.71517029G=CA1260078936DYSFc.896G= (p.Gly299=)
c.992G= (p.Gly331=)
c.899G= (p.Gly300=)
c.989G= (p.Gly330=)
n.1150G=
2g.71517029G>TCA347210284DYSFc.896G>T (p.Gly299Val)
c.992G>T (p.Gly331Val)
c.899G>T (p.Gly300Val)
c.989G>T (p.Gly330Val)
n.1150G>T
 COSMIC COSMIC
2g.71517030G>ACA426699800DYSFc.897G>A (p.Gly299=)
c.993G>A (p.Gly331=)
c.900G>A (p.Gly300=)
c.990G>A (p.Gly330=)
n.1151G>A
2g.71517030G>CCA426699801DYSFc.897G>C (p.Gly299=)
c.993G>C (p.Gly331=)
c.900G>C (p.Gly300=)
c.990G>C (p.Gly330=)
n.1151G>C
2g.71517030G>TCA426699802DYSFc.897G>T (p.Gly299=)
c.993G>T (p.Gly331=)
c.900G>T (p.Gly300=)
c.990G>T (p.Gly330=)
n.1151G>T
2g.71517031G>ACA347210291DYSFc.898G>A (p.Glu300Lys)
c.994G>A (p.Glu332Lys)
c.901G>A (p.Glu301Lys)
c.991G>A (p.Glu331Lys)
n.1152G>A
2g.71517031G>CCA347210286DYSFc.898G>C (p.Glu300Gln)
c.994G>C (p.Glu332Gln)
c.901G>C (p.Glu301Gln)
c.991G>C (p.Glu331Gln)
n.1152G>C
 dbSNP gnomAD v3 gnomAD v4
2g.71517031G=CA1260078938DYSFc.898G= (p.Glu300=)
c.994G= (p.Glu332=)
c.901G= (p.Glu301=)
c.991G= (p.Glu331=)
n.1152G=
2g.71517031G>TCA347210289DYSFc.898G>T (p.Glu300Ter)
c.994G>T (p.Glu332Ter)
c.901G>T (p.Glu301Ter)
c.991G>T (p.Glu331Ter)
n.1152G>T
2g.71517031_71517032delinsGACA1260078937DYSFc.898_899delinsGA (p.Glu300=)
c.994_995delinsGA (p.Glu332=)
c.901_902delinsGA (p.Glu301=)
c.991_992delinsGA (p.Glu331=)
n.1152_1153delinsGA
2g.71517032delCA10606693DYSFc.899del (p.Glu300GlyfsTer?)
c.995del (p.Glu332GlyfsTer?)
c.902del (p.Glu301GlyfsTer?)
c.992del (p.Glu331GlyfsTer?)
n.1153del
 ClinVar dbSNP
2g.71517032A>CCA347210293DYSFc.899A>C (p.Glu300Ala)
c.995A>C (p.Glu332Ala)
c.902A>C (p.Glu301Ala)
c.992A>C (p.Glu331Ala)
n.1153A>C
2g.71517032A>GCA347210296DYSFc.899A>G (p.Glu300Gly)
c.995A>G (p.Glu332Gly)
c.902A>G (p.Glu301Gly)
c.992A>G (p.Glu331Gly)
n.1153A>G
2g.71517032A>TCA347210298DYSFc.899A>T (p.Glu300Val)
c.995A>T (p.Glu332Val)
c.902A>T (p.Glu301Val)
c.992A>T (p.Glu331Val)
n.1153A>T
2g.71517033G>ACA426699804DYSFc.900G>A (p.Glu300=)
c.996G>A (p.Glu332=)
c.903G>A (p.Glu301=)
c.993G>A (p.Glu331=)
n.1154G>A
 ClinVar dbSNP
2g.71517033G>CCA347210300DYSFc.900G>C (p.Glu300Asp)
c.996G>C (p.Glu332Asp)
c.903G>C (p.Glu301Asp)
c.993G>C (p.Glu331Asp)
n.1154G>C
 gnomAD v4
2g.71517033G>TCA347210302DYSFc.900G>T (p.Glu300Asp)
c.996G>T (p.Glu332Asp)
c.903G>T (p.Glu301Asp)
c.993G>T (p.Glu331Asp)
n.1154G>T
2g.71517034T>ACA347210303DYSFc.901T>A (p.Phe301Ile)
c.997T>A (p.Phe333Ile)
c.904T>A (p.Phe302Ile)
c.994T>A (p.Phe332Ile)
n.1155T>A
2g.71517034T>CCA347210304DYSFc.901T>C (p.Phe301Leu)
c.997T>C (p.Phe333Leu)
c.904T>C (p.Phe302Leu)
c.994T>C (p.Phe332Leu)
n.1155T>C
2g.71517034T>GCA347210306DYSFc.901T>G (p.Phe301Val)
c.997T>G (p.Phe333Val)
c.904T>G (p.Phe302Val)
c.994T>G (p.Phe332Val)
n.1155T>G
2g.71517034_71517040delinsAAAACA2695200826DYSFc.901_906+1delinsAAAA
c.997_1002+1delinsAAAA
c.904_909+1delinsAAAA
c.994_999+1delinsAAAA
n.1155_1160+1delinsAAAA
 ClinVar
2g.71517035T>ACA347210308DYSFc.902T>A (p.Phe301Tyr)
c.998T>A (p.Phe333Tyr)
c.905T>A (p.Phe302Tyr)
c.995T>A (p.Phe332Tyr)
n.1156T>A
2g.71517035T>CCA347210310DYSFc.902T>C (p.Phe301Ser)
c.998T>C (p.Phe333Ser)
c.905T>C (p.Phe302Ser)
c.995T>C (p.Phe332Ser)
n.1156T>C
2g.71517035T>GCA347210312DYSFc.902T>G (p.Phe301Cys)
c.998T>G (p.Phe333Cys)
c.905T>G (p.Phe302Cys)
c.995T>G (p.Phe332Cys)
n.1156T>G
2g.71517035_71517036delinsTCCA1260078939DYSFc.902_903delinsTC (p.Phe301=)
c.998_999delinsTC (p.Phe333=)
c.905_906delinsTC (p.Phe302=)
c.995_996delinsTC (p.Phe332=)
n.1156_1157delinsTC
2g.71517036C>ACA347210315DYSFc.903C>A (p.Phe301Leu)
c.999C>A (p.Phe333Leu)
c.906C>A (p.Phe302Leu)
c.996C>A (p.Phe332Leu)
n.1157C>A
2g.71517036C=CA1260078940DYSFc.903C= (p.Phe301=)
c.999C= (p.Phe333=)
c.906C= (p.Phe302=)
c.996C= (p.Phe332=)
n.1157C=
2g.71517036C>GCA347210318DYSFc.903C>G (p.Phe301Leu)
c.999C>G (p.Phe333Leu)
c.906C>G (p.Phe302Leu)
c.996C>G (p.Phe332Leu)
n.1157C>G
2g.71517036C>TCA1705540DYSFc.903C>T (p.Phe301=)
c.999C>T (p.Phe333=)
c.906C>T (p.Phe302=)
c.996C>T (p.Phe332=)
n.1157C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.71517037delCA915944006DYSFc.904del (p.Arg302GlyfsTer?)
c.1000del (p.Arg334GlyfsTer?)
c.907del (p.Arg303GlyfsTer?)
c.997del (p.Arg333GlyfsTer?)
n.1158del
 ClinVar dbSNP gnomAD v4
2g.71517037C>ACA1705542DYSFc.904C>A (p.Arg302=)
c.1000C>A (p.Arg334=)
c.907C>A (p.Arg303=)
c.997C>A (p.Arg333=)
n.1158C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71517037C=CA1260078941DYSFc.904C= (p.Arg302=)
c.1000C= (p.Arg334=)
c.907C= (p.Arg303=)
c.997C= (p.Arg333=)
n.1158C=
2g.71517037C>GCA347210322DYSFc.904C>G (p.Arg302Gly)
c.1000C>G (p.Arg334Gly)
c.907C>G (p.Arg303Gly)
c.997C>G (p.Arg333Gly)
n.1158C>G
2g.71517037C>TCA1705541DYSFc.904C>T (p.Arg302Trp)
c.1000C>T (p.Arg334Trp)
c.907C>T (p.Arg303Trp)
c.997C>T (p.Arg333Trp)
n.1158C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.71517038G>ACA347210325DYSFc.905G>A (p.Arg302Gln)
c.1001G>A (p.Arg334Gln)
c.908G>A (p.Arg303Gln)
c.998G>A (p.Arg333Gln)
n.1159G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.71517038G>CCA1705543DYSFc.905G>C (p.Arg302Pro)
c.1001G>C (p.Arg334Pro)
c.908G>C (p.Arg303Pro)
c.998G>C (p.Arg333Pro)
n.1159G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71517038G=CA1260078942DYSFc.905G= (p.Arg302=)
c.1001G= (p.Arg334=)
c.908G= (p.Arg303=)
c.998G= (p.Arg333=)
n.1159G=
2g.71517038G>TCA347210328DYSFc.905G>T (p.Arg302Leu)
c.1001G>T (p.Arg334Leu)
c.908G>T (p.Arg303Leu)
c.998G>T (p.Arg333Leu)
n.1159G>T
2g.71517039G>ACA426699805DYSFc.906G>A (p.Arg302=)
c.1002G>A (p.Arg334=)
c.909G>A (p.Arg303=)
c.999G>A (p.Arg333=)
n.1160G>A
2g.71517039G>CCA1705544DYSFc.906G>C (p.Arg302=)
c.1002G>C (p.Arg334=)
c.909G>C (p.Arg303=)
c.999G>C (p.Arg333=)
n.1160G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71517039G=CA1260078943DYSFc.906G= (p.Arg302=)
c.1002G= (p.Arg334=)
c.909G= (p.Arg303=)
c.999G= (p.Arg333=)
n.1160G=
2g.71517039G>TCA426699806DYSFc.906G>T (p.Arg302=)
c.1002G>T (p.Arg334=)
c.909G>T (p.Arg303=)
c.999G>T (p.Arg333=)
n.1160G>T

Number of alleles fetched