Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.104033915dupCA5677696COL17A1c.3910+35dup (n.3910+35dup)
c.186+35dup
c.4156+35dup (n.4156+35dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.104033915delCA5677695COL17A1c.3910+35del (n.3910+35del)
c.186+35del
c.4156+35del (n.4156+35del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.104033915C=CA1933417718COL17A1c.3910+30G= (n.3910+30G=)
c.186+30G=
c.4156+30G= (n.4156+30G=)
10g.104033915C>TCA5677698COL17A1c.3910+30G>A (n.3910+30G>A)
c.186+30G>A
c.4156+30G>A (n.4156+30G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.104033916A>CCA2574660663COL17A1c.3910+29T>G (n.3910+29T>G)
c.186+29T>G
c.4156+29T>G (n.4156+29T>G)
10g.104033916A>GCA2533034841COL17A1c.3910+29T>C (n.3910+29T>C)
c.186+29T>C
c.4156+29T>C (n.4156+29T>C)
10g.104033917G>ACA2574660664COL17A1c.3910+28C>T (n.3910+28C>T)
c.186+28C>T
c.4156+28C>T (n.4156+28C>T)
10g.104033918C=CA1933417721COL17A1c.3910+27G= (n.3910+27G=)
c.186+27G=
c.4156+27G= (n.4156+27G=)
10g.104033918C>TCA659193509COL17A1c.3910+27G>A (n.3910+27G>A)
c.186+27G>A
c.4156+27G>A (n.4156+27G>A)
 dbSNP
10g.104033919A=CA1933417724COL17A1c.3910+26T= (n.3910+26T=)
c.186+26T=
c.4156+26T= (n.4156+26T=)
10g.104033919A>GCA1933417726COL17A1c.3910+26T>C (n.3910+26T>C)
c.186+26T>C
c.4156+26T>C (n.4156+26T>C)
 dbSNP gnomAD v4
10g.104033920C=CA1933417728COL17A1c.3910+25G= (n.3910+25G=)
c.186+25G=
c.4156+25G= (n.4156+25G=)
10g.104033920C>GCA595672945COL17A1c.3910+25G>C (n.3910+25G>C)
c.186+25G>C
c.4156+25G>C (n.4156+25G>C)
 dbSNP gnomAD v2 gnomAD v4
10g.104033920C>TCA2610796351COL17A1c.3910+25G>A (n.3910+25G>A)
c.186+25G>A
c.4156+25G>A (n.4156+25G>A)
 gnomAD v4
10g.104033922A=CA1933417733COL17A1c.3910+23T= (n.3910+23T=)
c.186+23T=
c.4156+23T= (n.4156+23T=)
10g.104033922A>GCA595672946COL17A1c.3910+23T>C (n.3910+23T>C)
c.186+23T>C
c.4156+23T>C (n.4156+23T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.104033922A>TCA5677699COL17A1c.3910+23T>A (n.3910+23T>A)
c.186+23T>A
c.4156+23T>A (n.4156+23T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.104033923A>GCA2610796352COL17A1c.3910+22T>C (n.3910+22T>C)
c.186+22T>C
c.4156+22T>C (n.4156+22T>C)
 gnomAD v4
10g.104033924G>ACA2610796353COL17A1c.3910+21C>T (n.3910+21C>T)
c.186+21C>T
c.4156+21C>T (n.4156+21C>T)
 gnomAD v4
10g.104033924G>TCA2574660665COL17A1c.3910+21C>A (n.3910+21C>A)
c.186+21C>A
c.4156+21C>A (n.4156+21C>A)
10g.104033925G>ACA2610796354COL17A1c.3910+20C>T (n.3910+20C>T)
c.186+20C>T
c.4156+20C>T (n.4156+20C>T)
 gnomAD v4
10g.104033925G>CCA5677701COL17A1c.3910+20C>G (n.3910+20C>G)
c.186+20C>G
c.4156+20C>G (n.4156+20C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.104033925G=CA1933417735COL17A1c.3910+20C= (n.3910+20C=)
c.186+20C=
c.4156+20C= (n.4156+20C=)
10g.104033925G>TCA5677700COL17A1c.3910+20C>A (n.3910+20C>A)
c.186+20C>A
c.4156+20C>A (n.4156+20C>A)
 dbSNP ExAC gnomAD v2
10g.104033926C=CA1933417738COL17A1c.3910+19G= (n.3910+19G=)
c.186+19G=
c.4156+19G= (n.4156+19G=)
10g.104033926C>GCA659193517COL17A1c.3910+19G>C (n.3910+19G>C)
c.186+19G>C
c.4156+19G>C (n.4156+19G>C)
 dbSNP gnomAD v3 gnomAD v4
10g.104033927C>TCA2739275987COL17A1c.3910+18G>A (n.3910+18G>A)
c.186+18G>A
c.4156+18G>A (n.4156+18G>A)
 ClinVar
10g.104033928delCA2610796355COL17A1c.3910+17del (n.3910+17del)
c.186+17del
c.4156+17del (n.4156+17del)
 gnomAD v4
10g.104033929A>GCA2574660666COL17A1c.3910+16T>C (n.3910+16T>C)
c.186+16T>C
c.4156+16T>C (n.4156+16T>C)
 ClinVar gnomAD v4
10g.104033933G>ACA595672947COL17A1c.3910+12C>T (n.3910+12C>T)
c.186+12C>T
c.4156+12C>T (n.4156+12C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.104033933G=CA1933417741COL17A1c.3910+12C= (n.3910+12C=)
c.186+12C=
c.4156+12C= (n.4156+12C=)
10g.104033935C=CA1933417744COL17A1c.3910+10G= (n.3910+10G=)
c.186+10G=
c.4156+10G= (n.4156+10G=)
10g.104033935C>TCA5677702COL17A1c.3910+10G>A (n.3910+10G>A)
c.186+10G>A
c.4156+10G>A (n.4156+10G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.104033936C=CA1933417746COL17A1c.3910+9G= (n.3910+9G=)
c.186+9G=
c.4156+9G= (n.4156+9G=)
10g.104033936C>GCA2610796356COL17A1c.3910+9G>C (n.3910+9G>C)
c.186+9G>C
c.4156+9G>C (n.4156+9G>C)
 gnomAD v4
10g.104033936C>TCA1933417747COL17A1c.3910+9G>A (n.3910+9G>A)
c.186+9G>A
c.4156+9G>A (n.4156+9G>A)
 ClinVar dbSNP gnomAD v4
10g.104033937C=CA1933417749COL17A1c.3910+8G= (n.3910+8G=)
c.186+8G=
c.4156+8G= (n.4156+8G=)
10g.104033937C>TCA5677703COL17A1c.3910+8G>A (n.3910+8G>A)
c.186+8G>A
c.4156+8G>A (n.4156+8G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.104033938C=CA1933417752COL17A1c.3910+7G= (n.3910+7G=)
c.186+7G=
c.4156+7G= (n.4156+7G=)
10g.104033938C>TCA1933417754COL17A1c.3910+7G>A (n.3910+7G>A)
c.186+7G>A
c.4156+7G>A (n.4156+7G>A)
 dbSNP
10g.104033939A=CA1933417756COL17A1c.3910+6T= (n.3910+6T=)
c.186+6T=
c.4156+6T= (n.4156+6T=)
10g.104033939A>TCA5677704COL17A1c.3910+6T>A (n.3910+6T>A)
c.186+6T>A
c.4156+6T>A (n.4156+6T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.104033942T>ACA212449780COL17A1c.3910+3A>T (n.3910+3A>T)
c.186+3A>T
c.4156+3A>T (n.4156+3A>T)
 dbSNP
10g.104033942T>GCA212449784COL17A1c.3910+3A>C (n.3910+3A>C)
c.186+3A>C
c.4156+3A>C (n.4156+3A>C)
 dbSNP
10g.104033942T=CA1933417758COL17A1c.3910+3A= (n.3910+3A=)
c.186+3A=
c.4156+3A= (n.4156+3A=)
10g.104033943A=CA1933417764COL17A1c.3910+2T= (n.3910+2T=)
c.186+2T=
c.4156+2T= (n.4156+2T=)
10g.104033943A>CCA378064849COL17A1c.3910+2T>G (n.3910+2T>G)
c.186+2T>G
c.4156+2T>G (n.4156+2T>G)
 dbSNP gnomAD v3 gnomAD v4
10g.104033943A>GCA378064850COL17A1c.3910+2T>C (n.3910+2T>C)
c.186+2T>C
c.4156+2T>C (n.4156+2T>C)
10g.104033943A>TCA378064851COL17A1c.3910+2T>A (n.3910+2T>A)
c.186+2T>A
c.4156+2T>A (n.4156+2T>A)
10g.104033943_104033944insAACA2695201037COL17A1c.3910+2_3910+3insTT (n.3910+2_3910+3insTT)
c.186+2_186+3insTT
c.4156+2_4156+3insTT (n.4156+2_4156+3insTT)
 ClinVar
10g.104033943_104033944insGACA2610796357COL17A1c.3910+2_3910+3insCT (n.3910+2_3910+3insCT)
c.186+2_186+3insCT
c.4156+2_4156+3insCT (n.4156+2_4156+3insCT)
 gnomAD v4
10g.104033943_104033944insGGACA659193535COL17A1c.3910+2_3910+3insCCT (n.3910+2_3910+3insCCT)
c.186+2_186+3insCCT
c.4156+2_4156+3insCCT (n.4156+2_4156+3insCCT)
 dbSNP gnomAD v3 gnomAD v4
10g.104033943dupCA1933417762COL17A1c.3910+2dup (n.3910+2dup)
c.186+2dup
c.4156+2dup (n.4156+2dup)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.104033944C>ACA378064852COL17A1c.3910+1G>T (n.3910+1G>T)
c.186+1G>T
c.4156+1G>T (n.4156+1G>T)
10g.104033944C=CA1933417769COL17A1c.3910+1G= (n.3910+1G=)
c.186+1G=
c.4156+1G= (n.4156+1G=)
10g.104033944C>GCA5677706COL17A1c.3910+1G>C (n.3910+1G>C)
c.186+1G>C
c.4156+1G>C (n.4156+1G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.104033944C>TCA5677705COL17A1c.3910+1G>A (n.3910+1G>A)
c.186+1G>A
c.4156+1G>A (n.4156+1G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.104033945G>ACA378064853COL17A1c.3910C>T (p.Arg1304Cys)
c.186C>T
c.4156C>T (p.Arg1386Cys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
10g.104033945G>CCA5677707COL17A1c.3910C>G (p.Arg1304Gly)
c.186C>G
c.4156C>G (p.Arg1386Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.104033945G=CA1933417775COL17A1c.3910C= (p.Arg1304=)
c.186C=
c.4156C= (p.Arg1386=)
10g.104033945G>TCA378064854COL17A1c.3910C>A (p.Arg1304Ser)
c.186C>A
c.4156C>A (p.Arg1386Ser)
 dbSNP gnomAD v4 COSMIC
10g.104033946C>ACA378064855COL17A1c.3909G>T (p.Gln1303His)
c.185G>T
c.4155G>T (p.Gln1385His)
10g.104033946C>GCA378064856COL17A1c.3909G>C (p.Gln1303His)
c.185G>C
c.4155G>C (p.Gln1385His)
10g.104033946C>TCA471341398COL17A1c.3909G>A (p.Gln1303=)
c.185G>A
c.4155G>A (p.Gln1385=)
 gnomAD v4
10g.104033947T>ACA378064857COL17A1c.3908A>T (p.Gln1303Leu)
c.184A>T
c.4154A>T (p.Gln1385Leu)
10g.104033947T>CCA378064858COL17A1c.3908A>G (p.Gln1303Arg)
c.184A>G
c.4154A>G (p.Gln1385Arg)
10g.104033947T>GCA378064859COL17A1c.3908A>C (p.Gln1303Pro)
c.184A>C
c.4154A>C (p.Gln1385Pro)
10g.104033948G>ACA378064860COL17A1c.3907C>T (p.Gln1303Ter)
c.183C>T
c.4153C>T (p.Gln1385Ter)
10g.104033948G>CCA378064861COL17A1c.3907C>G (p.Gln1303Glu)
c.183C>G
c.4153C>G (p.Gln1385Glu)
10g.104033948G>TCA378064862COL17A1c.3907C>A (p.Gln1303Lys)
c.183C>A
c.4153C>A (p.Gln1385Lys)
10g.104033949C>ACA378064864COL17A1c.3906G>T (p.Met1302Ile)
c.182G>T
c.4152G>T (p.Met1384Ile)
10g.104033949C=CA1933417779COL17A1c.3906G= (p.Met1302=)
c.182G=
c.4152G= (p.Met1384=)
10g.104033949C>GCA378064865COL17A1c.3906G>C (p.Met1302Ile)
c.182G>C
c.4152G>C (p.Met1384Ile)
10g.104033949C>TCA378064863COL17A1c.3906G>A (p.Met1302Ile)
c.182G>A
c.4152G>A (p.Met1384Ile)
 dbSNP gnomAD v4
10g.104033950A>CCA378064866COL17A1c.3905T>G (p.Met1302Arg)
c.181T>G
c.4151T>G (p.Met1384Arg)
10g.104033950A>GCA378064867COL17A1c.3905T>C (p.Met1302Thr)
c.181T>C
c.4151T>C (p.Met1384Thr)
10g.104033950A>TCA378064868COL17A1c.3905T>A (p.Met1302Lys)
c.181T>A
c.4151T>A (p.Met1384Lys)
10g.104033951T>ACA378064869COL17A1c.3904A>T (p.Met1302Leu)
c.180A>T
c.4150A>T (p.Met1384Leu)
10g.104033951T>CCA378064870COL17A1c.3904A>G (p.Met1302Val)
c.180A>G
c.4150A>G (p.Met1384Val)
10g.104033951T>GCA378064871COL17A1c.3904A>C (p.Met1302Leu)
c.180A>C
c.4150A>C (p.Met1384Leu)
10g.104033952G>ACA471341405COL17A1c.3903C>T (p.Ser1301=)
c.179C>T
c.4149C>T (p.Ser1383=)
 ClinVar gnomAD v4
10g.104033952G>CCA378064872COL17A1c.3903C>G (p.Ser1301Arg)
c.179C>G
c.4149C>G (p.Ser1383Arg)
10g.104033952G>TCA378064873COL17A1c.3903C>A (p.Ser1301Arg)
c.179C>A
c.4149C>A (p.Ser1383Arg)
10g.104033952_104033956delinsGCTCTCA1933417782COL17A1c.3899_3903delinsAGAGC (p.Glu1300=)
c.175_179delinsAGAGC
c.4145_4149delinsAGAGC (p.Glu1382=)
10g.104033953C>ACA378064874COL17A1c.3902G>T (p.Ser1301Ile)
c.178G>T
c.4148G>T (p.Ser1383Ile)
10g.104033953C>GCA378064875COL17A1c.3902G>C (p.Ser1301Thr)
c.178G>C
c.4148G>C (p.Ser1383Thr)
10g.104033953C>TCA378064876COL17A1c.3902G>A (p.Ser1301Asn)
c.178G>A
c.4148G>A (p.Ser1383Asn)
10g.104033957_104033958delCA2580616866COL17A1c.3901_3902del (p.Ser1301HisfsTer?)
c.177_178del
c.4147_4148del (p.Ser1383HisfsTer?)
 ClinVar gnomAD v4
10g.104033955_104033958delCA5677708COL17A1c.3899_3902del (p.Glu1300AlafsTer?)
c.175_178del
c.4145_4148del (p.Glu1382AlafsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.104033954T>ACA378064878COL17A1c.3901A>T (p.Ser1301Cys)
c.177A>T
c.4147A>T (p.Ser1383Cys)
10g.104033954T>CCA378064879COL17A1c.3901A>G (p.Ser1301Gly)
c.177A>G
c.4147A>G (p.Ser1383Gly)
 dbSNP gnomAD v3 gnomAD v4
10g.104033954T>GCA378064877COL17A1c.3901A>C (p.Ser1301Arg)
c.177A>C
c.4147A>C (p.Ser1383Arg)
10g.104033954T=CA1933417792COL17A1c.3901A= (p.Ser1301=)
c.177A=
c.4147A= (p.Ser1383=)
10g.104033955C>ACA378064880COL17A1c.3900G>T (p.Glu1300Asp)
c.176G>T
c.4146G>T (p.Glu1382Asp)
10g.104033955C=CA1933417796COL17A1c.3900G= (p.Glu1300=)
c.176G=
c.4146G= (p.Glu1382=)
10g.104033955C>GCA378064881COL17A1c.3900G>C (p.Glu1300Asp)
c.176G>C
c.4146G>C (p.Glu1382Asp)
 dbSNP gnomAD v2 gnomAD v4
10g.104033955C>TCA471341407COL17A1c.3900G>A (p.Glu1300=)
c.176G>A
c.4146G>A (p.Glu1382=)
 gnomAD v4
10g.104033956T>ACA378064882COL17A1c.3899A>T (p.Glu1300Val)
c.175A>T
c.4145A>T (p.Glu1382Val)
10g.104033956T>CCA378064883COL17A1c.3899A>G (p.Glu1300Gly)
c.175A>G
c.4145A>G (p.Glu1382Gly)
10g.104033956T>GCA378064884COL17A1c.3899A>C (p.Glu1300Ala)
c.175A>C
c.4145A>C (p.Glu1382Ala)
10g.104033957C>ACA378064887COL17A1c.3898G>T (p.Glu1300Ter)
c.174G>T
c.4144G>T (p.Glu1382Ter)
10g.104033957C>GCA378064885COL17A1c.3898G>C (p.Glu1300Gln)
c.174G>C
c.4144G>C (p.Glu1382Gln)
10g.104033957C>TCA378064886COL17A1c.3898G>A (p.Glu1300Lys)
c.174G>A
c.4144G>A (p.Glu1382Lys)
10g.104033958T>ACA471341413COL17A1c.3897A>T (p.Ser1299=)
c.173A>T
c.4143A>T (p.Ser1381=)
10g.104033958T>CCA471341412COL17A1c.3897A>G (p.Ser1299=)
c.173A>G
c.4143A>G (p.Ser1381=)
 gnomAD v4
10g.104033958T>GCA471341411COL17A1c.3897A>C (p.Ser1299=)
c.173A>C
c.4143A>C (p.Ser1381=)
10g.104033959G>ACA378064888COL17A1c.3896C>T (p.Ser1299Leu)
c.172C>T
c.4142C>T (p.Ser1381Leu)
 ClinVar dbSNP
10g.104033959G>CCA378064889COL17A1c.3896C>G (p.Ser1299Ter)
c.172C>G
c.4142C>G (p.Ser1381Ter)
10g.104033959G=CA1933417799COL17A1c.3896C= (p.Ser1299=)
c.172C=
c.4142C= (p.Ser1381=)
10g.104033959G>TCA378064890COL17A1c.3896C>A (p.Ser1299Ter)
c.172C>A
c.4142C>A (p.Ser1381Ter)
10g.104033960delCA2610796358COL17A1c.3895del (p.Ser1299GlnfsTer?)
c.171del
c.4141del (p.Ser1381GlnfsTer?)
 gnomAD v4
10g.104033960A>CCA378064891COL17A1c.3895T>G (p.Ser1299Ala)
c.171T>G
c.4141T>G (p.Ser1381Ala)
10g.104033960A>GCA378064892COL17A1c.3895T>C (p.Ser1299Pro)
c.171T>C
c.4141T>C (p.Ser1381Pro)
10g.104033960A>TCA378064893COL17A1c.3895T>A (p.Ser1299Thr)
c.171T>A
c.4141T>A (p.Ser1381Thr)
10g.104033961C>ACA471341414COL17A1c.3894G>T (p.Val1298=)
c.170G>T
c.4140G>T (p.Val1380=)
10g.104033961C>GCA471341416COL17A1c.3894G>C (p.Val1298=)
c.170G>C
c.4140G>C (p.Val1380=)
10g.104033961C>TCA471341418COL17A1c.3894G>A (p.Val1298=)
c.170G>A
c.4140G>A (p.Val1380=)
10g.104033962A=CA1933417804COL17A1c.3893T= (p.Val1298=)
c.169T=
c.4139T= (p.Val1380=)
10g.104033962A>CCA5677709COL17A1c.3893T>G (p.Val1298Gly)
c.169T>G
c.4139T>G (p.Val1380Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.104033962A>GCA378064895COL17A1c.3893T>C (p.Val1298Ala)
c.169T>C
c.4139T>C (p.Val1380Ala)
10g.104033962A>TCA378064894COL17A1c.3893T>A (p.Val1298Glu)
c.169T>A
c.4139T>A (p.Val1380Glu)
10g.104033963C>ACA378064896COL17A1c.3892G>T (p.Val1298Leu)
c.168G>T
c.4138G>T (p.Val1380Leu)
10g.104033963C>GCA378064897COL17A1c.3892G>C (p.Val1298Leu)
c.168G>C
c.4138G>C (p.Val1380Leu)
10g.104033963C>TCA378064898COL17A1c.3892G>A (p.Val1298Met)
c.168G>A
c.4138G>A (p.Val1380Met)
10g.104033964C>ACA378064899COL17A1c.3891G>T (p.Arg1297Ser)
c.167G>T
c.4137G>T (p.Arg1379Ser)
10g.104033964C=CA1933417809COL17A1c.3891G= (p.Arg1297=)
c.167G=
c.4137G= (p.Arg1379=)
10g.104033964C>GCA378064900COL17A1c.3891G>C (p.Arg1297Ser)
c.167G>C
c.4137G>C (p.Arg1379Ser)
10g.104033964C>TCA212449799COL17A1c.3891G>A (p.Arg1297=)
c.167G>A
c.4137G>A (p.Arg1379=)
 dbSNP gnomAD v3 gnomAD v4
10g.104033965C>ACA378064901COL17A1c.3890G>T (p.Arg1297Met)
c.166G>T
c.4136G>T (p.Arg1379Met)
10g.104033965C=CA1933417812COL17A1c.3890G= (p.Arg1297=)
c.166G=
c.4136G= (p.Arg1379=)
10g.104033965C>GCA5677710COL17A1c.3890G>C (p.Arg1297Thr)
c.166G>C
c.4136G>C (p.Arg1379Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.104033965C>TCA378064902COL17A1c.3890G>A (p.Arg1297Lys)
c.166G>A
c.4136G>A (p.Arg1379Lys)
 gnomAD v4
10g.104033966T>ACA378064903COL17A1c.3889A>T (p.Arg1297Trp)
c.165A>T
c.4135A>T (p.Arg1379Trp)
10g.104033966T>CCA378064904COL17A1c.3889A>G (p.Arg1297Gly)
c.165A>G
c.4135A>G (p.Arg1379Gly)
10g.104033966T>GCA471341422COL17A1c.3889A>C (p.Arg1297=)
c.165A>C
c.4135A>C (p.Arg1379=)
10g.104033967C>ACA471341424COL17A1c.3888G>T (p.Val1296=)
c.164G>T
c.4134G>T (p.Val1378=)
10g.104033967C>GCA471341426COL17A1c.3888G>C (p.Val1296=)
c.164G>C
c.4134G>C (p.Val1378=)
10g.104033967C>TCA471341427COL17A1c.3888G>A (p.Val1296=)
c.164G>A
c.4134G>A (p.Val1378=)
 gnomAD v4
10g.104033968A>CCA378064905COL17A1c.3887T>G (p.Val1296Gly)
c.163T>G
c.4133T>G (p.Val1378Gly)
10g.104033968A>GCA378064906COL17A1c.3887T>C (p.Val1296Ala)
c.163T>C
c.4133T>C (p.Val1378Ala)
10g.104033968A>TCA378064907COL17A1c.3887T>A (p.Val1296Glu)
c.163T>A
c.4133T>A (p.Val1378Glu)
10g.104033968dupCA2697558752COL17A1c.3887dup (p.Arg1297GlufsTer?)
c.163dup
c.4133dup (p.Arg1379GlufsTer?)
 ClinVar
10g.104033969C>ACA378064910COL17A1c.3886G>T (p.Val1296Leu)
c.162G>T
c.4132G>T (p.Val1378Leu)
10g.104033969C>GCA378064909COL17A1c.3886G>C (p.Val1296Leu)
c.162G>C
c.4132G>C (p.Val1378Leu)
 gnomAD v4
10g.104033969C>TCA378064908COL17A1c.3886G>A (p.Val1296Met)
c.162G>A
c.4132G>A (p.Val1378Met)
10g.104033970A>CCA471341429COL17A1c.3885T>G (p.Ala1295=)
c.161T>G
c.4131T>G (p.Ala1377=)
10g.104033970A>GCA471341431COL17A1c.3885T>C (p.Ala1295=)
c.161T>C
c.4131T>C (p.Ala1377=)
10g.104033970A>TCA471341430COL17A1c.3885T>A (p.Ala1295=)
c.161T>A
c.4131T>A (p.Ala1377=)
10g.104033971G>ACA378064911COL17A1c.3884C>T (p.Ala1295Val)
c.160C>T
c.4130C>T (p.Ala1377Val)
10g.104033971G>CCA378064912COL17A1c.3884C>G (p.Ala1295Gly)
c.160C>G
c.4130C>G (p.Ala1377Gly)
10g.104033971G>TCA378064913COL17A1c.3884C>A (p.Ala1295Asp)
c.160C>A
c.4130C>A (p.Ala1377Asp)
 gnomAD v4
10g.104033972C>ACA378064914COL17A1c.3883G>T (p.Ala1295Ser)
c.159G>T
c.4129G>T (p.Ala1377Ser)
10g.104033972C=CA1933417819COL17A1c.3883G= (p.Ala1295=)
c.159G=
c.4129G= (p.Ala1377=)
10g.104033972C>GCA378064915COL17A1c.3883G>C (p.Ala1295Pro)
c.159G>C
c.4129G>C (p.Ala1377Pro)
 gnomAD v4
10g.104033972C>TCA378064916COL17A1c.3883G>A (p.Ala1295Thr)
c.159G>A
c.4129G>A (p.Ala1377Thr)
 dbSNP
10g.104033973C>ACA471341433COL17A1c.3882G>T (p.Leu1294=)
c.158G>T
c.4128G>T (p.Leu1376=)
10g.104033973C=CA1933417825COL17A1c.3882G= (p.Leu1294=)
c.158G=
c.4128G= (p.Leu1376=)
10g.104033973C>GCA5677712COL17A1c.3882G>C (p.Leu1294=)
c.158G>C
c.4128G>C (p.Leu1376=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.104033973C>TCA5677711COL17A1c.3882G>A (p.Leu1294=)
c.158G>A
c.4128G>A (p.Leu1376=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.104033974A>CCA378064917COL17A1c.3881T>G (p.Leu1294Arg)
c.157T>G
c.4127T>G (p.Leu1376Arg)
10g.104033974A>GCA378064918COL17A1c.3881T>C (p.Leu1294Pro)
c.157T>C
c.4127T>C (p.Leu1376Pro)
10g.104033974A>TCA378064919COL17A1c.3881T>A (p.Leu1294Gln)
c.157T>A
c.4127T>A (p.Leu1376Gln)
10g.104033975G>ACA212449818COL17A1c.3880C>T (p.Leu1294=)
c.156C>T
c.4126C>T (p.Leu1376=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.104033975G>CCA378064920COL17A1c.3880C>G (p.Leu1294Val)
c.156C>G
c.4126C>G (p.Leu1376Val)
10g.104033975G=CA1933417829COL17A1c.3880C= (p.Leu1294=)
c.156C=
c.4126C= (p.Leu1376=)
10g.104033975G>TCA378064921COL17A1c.3880C>A (p.Leu1294Met)
c.156C>A
c.4126C>A (p.Leu1376Met)
10g.104033976C>ACA378064922COL17A1c.3879G>T (p.Glu1293Asp)
c.155G>T
c.4125G>T (p.Glu1375Asp)
 gnomAD v4
10g.104033976C>GCA378064923COL17A1c.3879G>C (p.Glu1293Asp)
c.155G>C
c.4125G>C (p.Glu1375Asp)
10g.104033976C>TCA471341439COL17A1c.3879G>A (p.Glu1293=)
c.155G>A
c.4125G>A (p.Glu1375=)
10g.104033977T>ACA378064925COL17A1c.3878A>T (p.Glu1293Val)
c.154A>T
c.4124A>T (p.Glu1375Val)
10g.104033977T>CCA378064926COL17A1c.3878A>G (p.Glu1293Gly)
c.154A>G
c.4124A>G (p.Glu1375Gly)
10g.104033977T>GCA378064924COL17A1c.3878A>C (p.Glu1293Ala)
c.154A>C
c.4124A>C (p.Glu1375Ala)
10g.104033978C>ACA378064927COL17A1c.3877G>T (p.Glu1293Ter)
c.153G>T
c.4123G>T (p.Glu1375Ter)
10g.104033978C>GCA378064928COL17A1c.3877G>C (p.Glu1293Gln)
c.153G>C
c.4123G>C (p.Glu1375Gln)
 gnomAD v4
10g.104033978C>TCA378064929COL17A1c.3877G>A (p.Glu1293Lys)
c.153G>A
c.4123G>A (p.Glu1375Lys)
 gnomAD v4
10g.104033979A=CA1933417831COL17A1c.3876T= (p.Asn1292=)
c.152T=
c.4122T= (p.Asn1374=)
10g.104033979A>CCA378064930COL17A1c.3876T>G (p.Asn1292Lys)
c.152T>G
c.4122T>G (p.Asn1374Lys)
 dbSNP gnomAD v4
10g.104033979A>GCA5677713COL17A1c.3876T>C (p.Asn1292=)
c.152T>C
c.4122T>C (p.Asn1374=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.104033979A>TCA378064931COL17A1c.3876T>A (p.Asn1292Lys)
c.152T>A
c.4122T>A (p.Asn1374Lys)
10g.104033980T>ACA378064934COL17A1c.3875A>T (p.Asn1292Ile)
c.151A>T
c.4121A>T (p.Asn1374Ile)
10g.104033980T>CCA378064932COL17A1c.3875A>G (p.Asn1292Ser)
c.151A>G
c.4121A>G (p.Asn1374Ser)
 dbSNP gnomAD v3 gnomAD v4
10g.104033980T>GCA378064933COL17A1c.3875A>C (p.Asn1292Thr)
c.151A>C
c.4121A>C (p.Asn1374Thr)
10g.104033980T=CA1933417835COL17A1c.3875A= (p.Asn1292=)
c.151A=
c.4121A= (p.Asn1374=)
10g.104033981T>ACA378064935COL17A1c.3874A>T (p.Asn1292Tyr)
c.150A>T
c.4120A>T (p.Asn1374Tyr)
10g.104033981T>CCA5677714COL17A1c.3874A>G (p.Asn1292Asp)
c.150A>G
c.4120A>G (p.Asn1374Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.104033981T>GCA378064936COL17A1c.3874A>C (p.Asn1292His)
c.150A>C
c.4120A>C (p.Asn1374His)
10g.104033981T=CA1933417837COL17A1c.3874A= (p.Asn1292=)
c.150A=
c.4120A= (p.Asn1374=)
10g.104033982G>ACA471341463COL17A1c.3873C>T (p.Tyr1291=)
c.149C>T
c.4119C>T (p.Tyr1373=)
 gnomAD v4
10g.104033982G>CCA378064937COL17A1c.3873C>G (p.Tyr1291Ter)
c.149C>G
c.4119C>G (p.Tyr1373Ter)
10g.104033982G>TCA378064938COL17A1c.3873C>A (p.Tyr1291Ter)
c.149C>A
c.4119C>A (p.Tyr1373Ter)
10g.104033983T>ACA378064939COL17A1c.3872A>T (p.Tyr1291Phe)
c.148A>T
c.4118A>T (p.Tyr1373Phe)
10g.104033983T>CCA378064941COL17A1c.3872A>G (p.Tyr1291Cys)
c.148A>G
c.4118A>G (p.Tyr1373Cys)
10g.104033983T>GCA378064940COL17A1c.3872A>C (p.Tyr1291Ser)
c.148A>C
c.4118A>C (p.Tyr1373Ser)
10g.104033984A=CA1933417843COL17A1c.3871T= (p.Tyr1291=)
c.147T=
c.4117T= (p.Tyr1373=)
10g.104033984A>CCA378064942COL17A1c.3871T>G (p.Tyr1291Asp)
c.147T>G
c.4117T>G (p.Tyr1373Asp)
10g.104033984A>GCA5677715COL17A1c.3871T>C (p.Tyr1291His)
c.147T>C
c.4117T>C (p.Tyr1373His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.104033984A>TCA378064943COL17A1c.3871T>A (p.Tyr1291Asn)
c.147T>A
c.4117T>A (p.Tyr1373Asn)
10g.104033985A>CCA378064944COL17A1c.3870T>G (p.Asp1290Glu)
c.146T>G
c.4116T>G (p.Asp1372Glu)
10g.104033985A>GCA471341475COL17A1c.3870T>C (p.Asp1290=)
c.146T>C
c.4116T>C (p.Asp1372=)
10g.104033985A>TCA378064945COL17A1c.3870T>A (p.Asp1290Glu)
c.146T>A
c.4116T>A (p.Asp1372Glu)
10g.104033986T>ACA378064946COL17A1c.3869A>T (p.Asp1290Val)
c.145A>T
c.4115A>T (p.Asp1372Val)
10g.104033986T>CCA378064947COL17A1c.3869A>G (p.Asp1290Gly)
c.145A>G
c.4115A>G (p.Asp1372Gly)
10g.104033986T>GCA378064948COL17A1c.3869A>C (p.Asp1290Ala)
c.145A>C
c.4115A>C (p.Asp1372Ala)
10g.104033987C>ACA5677716COL17A1c.3868G>T (p.Asp1290Tyr)
c.144G>T
c.4114G>T (p.Asp1372Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.104033987C=CA1933417847COL17A1c.3868G= (p.Asp1290=)
c.144G=
c.4114G= (p.Asp1372=)
10g.104033987C>GCA378064949COL17A1c.3868G>C (p.Asp1290His)
c.144G>C
c.4114G>C (p.Asp1372His)
 dbSNP
10g.104033987C>TCA378064950COL17A1c.3868G>A (p.Asp1290Asn)
c.144G>A
c.4114G>A (p.Asp1372Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.104033988C>ACA471341490COL17A1c.3867G>T (p.Leu1289=)
c.143G>T
c.4113G>T (p.Leu1371=)
10g.104033988C>GCA471341493COL17A1c.3867G>C (p.Leu1289=)
c.143G>C
c.4113G>C (p.Leu1371=)
10g.104033988C>TCA471341494COL17A1c.3867G>A (p.Leu1289=)
c.143G>A
c.4113G>A (p.Leu1371=)
10g.104033989A=CA1933417848COL17A1c.3866T= (p.Leu1289=)
c.142T=
c.4112T= (p.Leu1371=)
10g.104033989A>CCA378064953COL17A1c.3866T>G (p.Leu1289Arg)
c.142T>G
c.4112T>G (p.Leu1371Arg)
10g.104033989A>GCA378064951COL17A1c.3866T>C (p.Leu1289Pro)
c.142T>C
c.4112T>C (p.Leu1371Pro)
 dbSNP gnomAD v3 gnomAD v4
10g.104033989A>TCA378064952COL17A1c.3866T>A (p.Leu1289Gln)
c.142T>A
c.4112T>A (p.Leu1371Gln)
10g.104033990G>ACA471341502COL17A1c.3865C>T (p.Leu1289=)
c.141C>T
c.4111C>T (p.Leu1371=)
 ClinVar
10g.104033990G>CCA378064954COL17A1c.3865C>G (p.Leu1289Val)
c.141C>G
c.4111C>G (p.Leu1371Val)
 dbSNP gnomAD v3 gnomAD v4
10g.104033990G=CA1933417851COL17A1c.3865C= (p.Leu1289=)
c.141C=
c.4111C= (p.Leu1371=)
10g.104033990G>TCA378064955COL17A1c.3865C>A (p.Leu1289Met)
c.141C>A
c.4111C>A (p.Leu1371Met)
 gnomAD v4
10g.104033991A=CA1933417853COL17A1c.3864T= (p.Asp1288=)
c.140T=
c.4110T= (p.Asp1370=)
10g.104033991A>CCA378064956COL17A1c.3864T>G (p.Asp1288Glu)
c.140T>G
c.4110T>G (p.Asp1370Glu)
 dbSNP gnomAD v2 gnomAD v4
10g.104033991A>GCA471341508COL17A1c.3864T>C (p.Asp1288=)
c.140T>C
c.4110T>C (p.Asp1370=)
 ClinVar gnomAD v4
10g.104033991A>TCA212449847COL17A1c.3864T>A (p.Asp1288Glu)
c.140T>A
c.4110T>A (p.Asp1370Glu)
 dbSNP gnomAD v4
10g.104033992T>ACA378064957COL17A1c.3863A>T (p.Asp1288Val)
c.139A>T
c.4109A>T (p.Asp1370Val)
10g.104033992T>CCA5677717COL17A1c.3863A>G (p.Asp1288Gly)
c.139A>G
c.4109A>G (p.Asp1370Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.104033992T>GCA5677718COL17A1c.3863A>C (p.Asp1288Ala)
c.139A>C
c.4109A>C (p.Asp1370Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.104033992T=CA1933417858COL17A1c.3863A= (p.Asp1288=)
c.139A=
c.4109A= (p.Asp1370=)
10g.104033993C>ACA378064960COL17A1c.3862G>T (p.Asp1288Tyr)
c.138G>T
c.4108G>T (p.Asp1370Tyr)
10g.104033993C>GCA378064959COL17A1c.3862G>C (p.Asp1288His)
c.138G>C
c.4108G>C (p.Asp1370His)
10g.104033993C>TCA378064958COL17A1c.3862G>A (p.Asp1288Asn)
c.138G>A
c.4108G>A (p.Asp1370Asn)
 gnomAD v4 COSMIC
10g.104033994T>ACA471341525COL17A1c.3861A>T (p.Gly1287=)
c.137A>T
c.4107A>T (p.Gly1369=)
10g.104033994T>CCA471341528COL17A1c.3861A>G (p.Gly1287=)
c.137A>G
c.4107A>G (p.Gly1369=)
10g.104033994T>GCA471341529COL17A1c.3861A>C (p.Gly1287=)
c.137A>C
c.4107A>C (p.Gly1369=)
 gnomAD v4
10g.104033995C>ACA378064961COL17A1c.3860G>T (p.Gly1287Val)
c.136G>T
c.4106G>T (p.Gly1369Val)
10g.104033995C>GCA378064962COL17A1c.3860G>C (p.Gly1287Ala)
c.136G>C
c.4106G>C (p.Gly1369Ala)
10g.104033995C>TCA378064963COL17A1c.3860G>A (p.Gly1287Glu)
c.136G>A
c.4106G>A (p.Gly1369Glu)
 gnomAD v4
10g.104033996C>ACA378064964COL17A1c.3859G>T (p.Gly1287Ter)
c.135G>T
c.4105G>T (p.Gly1369Ter)
10g.104033996C>GCA378064965COL17A1c.3859G>C (p.Gly1287Arg)
c.135G>C
c.4105G>C (p.Gly1369Arg)
10g.104033996C>TCA378064966COL17A1c.3859G>A (p.Gly1287Arg)
c.135G>A
c.4105G>A (p.Gly1369Arg)
 gnomAD v4
10g.104033997A>CCA471341538COL17A1c.3858T>G (p.Ala1286=)
c.134T>G
c.4104T>G (p.Ala1368=)
10g.104033997A>GCA471341540COL17A1c.3858T>C (p.Ala1286=)
c.134T>C
c.4104T>C (p.Ala1368=)
10g.104033997A>TCA471341542COL17A1c.3858T>A (p.Ala1286=)
c.134T>A
c.4104T>A (p.Ala1368=)
10g.104033998G>ACA378064967COL17A1c.3857C>T (p.Ala1286Val)
c.133C>T
c.4103C>T (p.Ala1368Val)
 dbSNP gnomAD v3 gnomAD v4
10g.104033998G>CCA378064969COL17A1c.3857C>G (p.Ala1286Gly)
c.133C>G
c.4103C>G (p.Ala1368Gly)
10g.104033998G=CA1933417863COL17A1c.3857C= (p.Ala1286=)
c.133C=
c.4103C= (p.Ala1368=)
10g.104033998G>TCA378064968COL17A1c.3857C>A (p.Ala1286Asp)
c.133C>A
c.4103C>A (p.Ala1368Asp)
10g.104033999C>ACA378064970COL17A1c.3856G>T (p.Ala1286Ser)
c.132G>T
c.4102G>T (p.Ala1368Ser)
10g.104033999C>GCA378064971COL17A1c.3856G>C (p.Ala1286Pro)
c.132G>C
c.4102G>C (p.Ala1368Pro)
 gnomAD v4
10g.104033999C>TCA378064972COL17A1c.3856G>A (p.Ala1286Thr)
c.132G>A
c.4102G>A (p.Ala1368Thr)
10g.104034000A>CCA378064973COL17A1c.3855T>G (p.Phe1285Leu)
c.131T>G
c.4101T>G (p.Phe1367Leu)
10g.104034000A>GCA471341551COL17A1c.3855T>C (p.Phe1285=)
c.131T>C
c.4101T>C (p.Phe1367=)
10g.104034000A>TCA378064974COL17A1c.3855T>A (p.Phe1285Leu)
c.131T>A
c.4101T>A (p.Phe1367Leu)
10g.104034001_104034002delCA2695212671COL17A1c.3854_3855del (p.Phe1285CysfsTer8)
c.130_131del
c.4100_4101del (p.Phe1367CysfsTer8)
10g.104034001A=CA1933417866COL17A1c.3854T= (p.Phe1285=)
c.130T=
c.4100T= (p.Phe1367=)
10g.104034001A>CCA378064975COL17A1c.3854T>G (p.Phe1285Cys)
c.130T>G
c.4100T>G (p.Phe1367Cys)
10g.104034001A>GCA10630890COL17A1c.3854T>C (p.Phe1285Ser)
c.130T>C
c.4100T>C (p.Phe1367Ser)
 ClinVar dbSNP
10g.104034001A>TCA378064976COL17A1c.3854T>A (p.Phe1285Tyr)
c.130T>A
c.4100T>A (p.Phe1367Tyr)
10g.104034002A=CA1933417869COL17A1c.3853T= (p.Phe1285=)
c.129T=
c.4099T= (p.Phe1367=)
10g.104034002A>CCA378064977COL17A1c.3853T>G (p.Phe1285Val)
c.129T>G
c.4099T>G (p.Phe1367Val)
 dbSNP gnomAD v3 gnomAD v4
10g.104034002A>GCA378064978COL17A1c.3853T>C (p.Phe1285Leu)
c.129T>C
c.4099T>C (p.Phe1367Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.104034002A>TCA378064979COL17A1c.3853T>A (p.Phe1285Ile)
c.129T>A
c.4099T>A (p.Phe1367Ile)
10g.104034003G>ACA471341561COL17A1c.3852C>T (p.Asp1284=)
c.128C>T
c.4098C>T (p.Asp1366=)
10g.104034003G>CCA378064981COL17A1c.3852C>G (p.Asp1284Glu)
c.128C>G
c.4098C>G (p.Asp1366Glu)
10g.104034003G>TCA378064980COL17A1c.3852C>A (p.Asp1284Glu)
c.128C>A
c.4098C>A (p.Asp1366Glu)
10g.104034004T>ACA378064982COL17A1c.3851A>T (p.Asp1284Val)
c.127A>T
c.4097A>T (p.Asp1366Val)
10g.104034004T>CCA378064983COL17A1c.3851A>G (p.Asp1284Gly)
c.127A>G
c.4097A>G (p.Asp1366Gly)
10g.104034004T>GCA378064984COL17A1c.3851A>C (p.Asp1284Ala)
c.127A>C
c.4097A>C (p.Asp1366Ala)
10g.104034005C>ACA378064985COL17A1c.3850G>T (p.Asp1284Tyr)
c.126G>T
c.4096G>T (p.Asp1366Tyr)
10g.104034005C>GCA378064986COL17A1c.3850G>C (p.Asp1284His)
c.126G>C
c.4096G>C (p.Asp1366His)
 COSMIC
10g.104034005C>TCA378064987COL17A1c.3850G>A (p.Asp1284Asn)
c.126G>A
c.4096G>A (p.Asp1366Asn)
10g.104034006A>CCA471341575COL17A1c.3849T>G (p.Ala1283=)
c.125T>G
c.4095T>G (p.Ala1365=)
10g.104034006A>GCA471341577COL17A1c.3849T>C (p.Ala1283=)
c.125T>C
c.4095T>C (p.Ala1365=)
10g.104034006A>TCA471341578COL17A1c.3849T>A (p.Ala1283=)
c.125T>A
c.4095T>A (p.Ala1365=)
10g.104034007G>ACA378064989COL17A1c.3848C>T (p.Ala1283Val)
c.124C>T
c.4094C>T (p.Ala1365Val)
10g.104034007G>CCA378064988COL17A1c.3848C>G (p.Ala1283Gly)
c.124C>G
c.4094C>G (p.Ala1365Gly)
10g.104034007G=CA1933417871COL17A1c.3848C= (p.Ala1283=)
c.124C=
c.4094C= (p.Ala1365=)
10g.104034007G>TCA5677719COL17A1c.3848C>A (p.Ala1283Asp)
c.124C>A
c.4094C>A (p.Ala1365Asp)
 dbSNP ExAC gnomAD v2
10g.104034008C>ACA378064990COL17A1c.3847G>T (p.Ala1283Ser)
c.123G>T
c.4093G>T (p.Ala1365Ser)
10g.104034008C=CA1933417874COL17A1c.3847G= (p.Ala1283=)
c.123G=
c.4093G= (p.Ala1365=)
10g.104034008C>GCA378064991COL17A1c.3847G>C (p.Ala1283Pro)
c.123G>C
c.4093G>C (p.Ala1365Pro)
 dbSNP
10g.104034008C>TCA378064992COL17A1c.3847G>A (p.Ala1283Thr)
c.123G>A
c.4093G>A (p.Ala1365Thr)
10g.104034009T>ACA471341589COL17A1c.3846A>T (p.Gly1282=)
c.122A>T
c.4092A>T (p.Gly1364=)
10g.104034009T>CCA471341591COL17A1c.3846A>G (p.Gly1282=)
c.122A>G
c.4092A>G (p.Gly1364=)
10g.104034009T>GCA471341593COL17A1c.3846A>C (p.Gly1282=)
c.122A>C
c.4092A>C (p.Gly1364=)
10g.104034010C>ACA378064993COL17A1c.3845G>T (p.Gly1282Val)
c.121G>T
c.4091G>T (p.Gly1364Val)
10g.104034010C>GCA378064994COL17A1c.3845G>C (p.Gly1282Ala)
c.121G>C
c.4091G>C (p.Gly1364Ala)
10g.104034010C>TCA378064995COL17A1c.3845G>A (p.Gly1282Glu)
c.121G>A
c.4091G>A (p.Gly1364Glu)
10g.104034011C>ACA378064996COL17A1c.3844G>T (p.Gly1282Ter)
c.120G>T
c.4090G>T (p.Gly1364Ter)
10g.104034011C=CA1933417878COL17A1c.3844G= (p.Gly1282=)
c.120G=
c.4090G= (p.Gly1364=)
10g.104034011C>GCA378064998COL17A1c.3844G>C (p.Gly1282Arg)
c.120G>C
c.4090G>C (p.Gly1364Arg)
10g.104034011C>TCA378064997COL17A1c.3844G>A (p.Gly1282Arg)
c.120G>A
c.4090G>A (p.Gly1364Arg)
 dbSNP gnomAD v3 gnomAD v4
10g.104034012C>ACA378064999COL17A1c.3843G>T (p.Leu1281Phe)
c.119G>T
c.4089G>T (p.Leu1363Phe)
10g.104034012C=CA1933417881COL17A1c.3843G= (p.Leu1281=)
c.119G=
c.4089G= (p.Leu1363=)
10g.104034012C>GCA378065000COL17A1c.3843G>C (p.Leu1281Phe)
c.119G>C
c.4089G>C (p.Leu1363Phe)
 dbSNP
10g.104034012C>TCA471341602COL17A1c.3843G>A (p.Leu1281=)
c.119G>A
c.4089G>A (p.Leu1363=)
 COSMIC
10g.104034013A=CA1933417887COL17A1c.3842T= (p.Leu1281=)
c.118T=
c.4088T= (p.Leu1363=)
10g.104034013A>CCA378065001COL17A1c.3842T>G (p.Leu1281Trp)
c.118T>G
c.4088T>G (p.Leu1363Trp)
 dbSNP gnomAD v2 gnomAD v4
10g.104034013A>GCA5677720COL17A1c.3842T>C (p.Leu1281Ser)
c.118T>C
c.4088T>C (p.Leu1363Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.104034013A>TCA378065002COL17A1c.3842T>A (p.Leu1281Ter)
c.118T>A
c.4088T>A (p.Leu1363Ter)
10g.104034014delCA2695212672COL17A1c.3842del (p.Leu1281TrpfsTer16)
c.118del
c.4088del (p.Leu1363TrpfsTer16)
10g.104034014A=CA1933417893COL17A1c.3841T= (p.Leu1281=)
c.117T=
c.4087T= (p.Leu1363=)
10g.104034014A>CCA378065003COL17A1c.3841T>G (p.Leu1281Val)
c.117T>G
c.4087T>G (p.Leu1363Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.104034014A>GCA471341611COL17A1c.3841T>C (p.Leu1281=)
c.117T>C
c.4087T>C (p.Leu1363=)
 dbSNP
10g.104034014A>TCA378065004COL17A1c.3841T>A (p.Leu1281Met)
c.117T>A
c.4087T>A (p.Leu1363Met)
10g.104034015T>ACA471341616COL17A1c.3840A>T (p.Leu1280=)
c.116A>T
c.4086A>T (p.Leu1362=)
10g.104034015T>CCA471341619COL17A1c.3840A>G (p.Leu1280=)
c.116A>G
c.4086A>G (p.Leu1362=)
10g.104034015T>GCA471341621COL17A1c.3840A>C (p.Leu1280=)
c.116A>C
c.4086A>C (p.Leu1362=)

Number of alleles fetched