Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.104034264G>ACA471503186COL17A1c.3591C>T (p.Ser1197=)
c.3837C>T (p.Ser1279=)
 gnomAD v3 gnomAD v4
10g.104034264G>CCA378065698COL17A1c.3591C>G (p.Ser1197Arg)
c.3837C>G (p.Ser1279Arg)
10g.104034264G=CA1933418481COL17A1c.3591C= (p.Ser1197=)
c.3837C= (p.Ser1279=)
10g.104034264G>TCA378065700COL17A1c.3591C>A (p.Ser1197Arg)
c.3837C>A (p.Ser1279Arg)
 dbSNP gnomAD v2 gnomAD v4
10g.104034265C>ACA378065701COL17A1c.3590G>T (p.Ser1197Ile)
c.3836G>T (p.Ser1279Ile)
10g.104034265C>GCA378065703COL17A1c.3590G>C (p.Ser1197Thr)
c.3836G>C (p.Ser1279Thr)
10g.104034265C>TCA378065705COL17A1c.3590G>A (p.Ser1197Asn)
c.3836G>A (p.Ser1279Asn)
 gnomAD v4
10g.104034266T>ACA378065709COL17A1c.3589A>T (p.Ser1197Cys)
c.3835A>T (p.Ser1279Cys)
10g.104034266T>CCA378065706COL17A1c.3589A>G (p.Ser1197Gly)
c.3835A>G (p.Ser1279Gly)
 gnomAD v4
10g.104034266T>GCA378065707COL17A1c.3589A>C (p.Ser1197Arg)
c.3835A>C (p.Ser1279Arg)
10g.104034267G>ACA471503190COL17A1c.3588C>T (p.Asp1196=)
c.3834C>T (p.Asp1278=)
 gnomAD v4
10g.104034267G>CCA378065711COL17A1c.3588C>G (p.Asp1196Glu)
c.3834C>G (p.Asp1278Glu)
10g.104034267G>TCA378065713COL17A1c.3588C>A (p.Asp1196Glu)
c.3834C>A (p.Asp1278Glu)
 gnomAD v4
10g.104034268T>ACA378065715COL17A1c.3587A>T (p.Asp1196Val)
c.3833A>T (p.Asp1278Val)
 dbSNP
10g.104034268T>CCA378065716COL17A1c.3587A>G (p.Asp1196Gly)
c.3833A>G (p.Asp1278Gly)
10g.104034268T>GCA378065717COL17A1c.3587A>C (p.Asp1196Ala)
c.3833A>C (p.Asp1278Ala)
10g.104034268T=CA1933418484COL17A1c.3587A= (p.Asp1196=)
c.3833A= (p.Asp1278=)
10g.104034268_104034270delinsTCCCA1933418482COL17A1c.3585_3587delinsGGA (p.Gly1195=)
c.3831_3833delinsGGA (p.Gly1277=)
10g.104034269C>ACA378065719COL17A1c.3586G>T (p.Asp1196Tyr)
c.3832G>T (p.Asp1278Tyr)
10g.104034269C=CA1933418488COL17A1c.3586G= (p.Asp1196=)
c.3832G= (p.Asp1278=)
10g.104034269C>GCA378065720COL17A1c.3586G>C (p.Asp1196His)
c.3832G>C (p.Asp1278His)
10g.104034269C>TCA378065721COL17A1c.3586G>A (p.Asp1196Asn)
c.3832G>A (p.Asp1278Asn)
 ClinVar dbSNP gnomAD v4
10g.104034272delCA2610796362COL17A1c.3586del (p.Asp1196ThrfsTer?)
c.3832del (p.Asp1278ThrfsTer?)
 gnomAD v4
10g.104034271_104034272delCA918751059COL17A1c.3585_3586del (p.Asp1196GlnfsTer14)
c.3831_3832del (p.Asp1278GlnfsTer14)
 dbSNP
10g.104034270C>ACA471503202COL17A1c.3585G>T (p.Gly1195=)
c.3831G>T (p.Gly1277=)
10g.104034270C=CA1933418492COL17A1c.3585G= (p.Gly1195=)
c.3831G= (p.Gly1277=)
10g.104034270C>GCA471503203COL17A1c.3585G>C (p.Gly1195=)
c.3831G>C (p.Gly1277=)
 dbSNP gnomAD v2 gnomAD v4
10g.104034270C>TCA471503204COL17A1c.3585G>A (p.Gly1195=)
c.3831G>A (p.Gly1277=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.104034271C>ACA378065723COL17A1c.3584G>T (p.Gly1195Val)
c.3830G>T (p.Gly1277Val)
 gnomAD v4
10g.104034271C>GCA378065724COL17A1c.3584G>C (p.Gly1195Ala)
c.3830G>C (p.Gly1277Ala)
 gnomAD v2 gnomAD v4
10g.104034271C>TCA378065726COL17A1c.3584G>A (p.Gly1195Glu)
c.3830G>A (p.Gly1277Glu)
 gnomAD v4
10g.104034271_104034273delinsCCACA1933418495COL17A1c.3582_3584delinsTGG (p.Pro1194=)
c.3828_3830delinsTGG (p.Pro1276=)
10g.104034271_104034280delinsCCAGGGGGTCCA1933418494COL17A1c.3575_3584delinsGACCCCCTGG (p.Gly1192=)
c.3821_3830delinsGACCCCCTGG (p.Gly1274=)
10g.104034272C>ACA378065730COL17A1c.3583G>T (p.Gly1195Trp)
c.3829G>T (p.Gly1277Trp)
 gnomAD v4
10g.104034272C=CA1933418501COL17A1c.3583G= (p.Gly1195=)
c.3829G= (p.Gly1277=)
10g.104034272C>GCA378065728COL17A1c.3583G>C (p.Gly1195Arg)
c.3829G>C (p.Gly1277Arg)
10g.104034272C>TCA5677790COL17A1c.3583G>A (p.Gly1195Arg)
c.3829G>A (p.Gly1277Arg)
 dbSNP ExAC
10g.104034272_104034273delCA596111126COL17A1c.3582_3583del (p.Asp1196GlnfsTer14)
c.3828_3829del (p.Asp1278GlnfsTer14)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.104034272_104034280delinsGCA658797533COL17A1c.3575_3583delinsC (p.Gly1192AlafsTer16)
c.3821_3829delinsC (p.Gly1274AlafsTer16)
 ClinVar dbSNP
10g.104034273_104034280delCA659194261COL17A1c.3576_3583del (p.Pro1193GlyfsTer15)
c.3822_3829del (p.Pro1275GlyfsTer15)
 dbSNP
10g.104034272_104034273insGCA1933418503COL17A1c.3582_3583insC (p.Gly1195ArgfsTer16)
c.3828_3829insC (p.Gly1277ArgfsTer16)
 ClinVar dbSNP
10g.104034273delCA2610796363COL17A1c.3582del (p.Asp1196ThrfsTer?)
c.3828del (p.Asp1278ThrfsTer?)
 gnomAD v4
10g.104034273A=CA1933418504COL17A1c.3582T= (p.Pro1194=)
c.3828T= (p.Pro1276=)
10g.104034273A>CCA471503209COL17A1c.3582T>G (p.Pro1194=)
c.3828T>G (p.Pro1276=)
10g.104034273A>GCA471503210COL17A1c.3582T>C (p.Pro1194=)
c.3828T>C (p.Pro1276=)
 dbSNP
10g.104034273A>TCA471503211COL17A1c.3582T>A (p.Pro1194=)
c.3828T>A (p.Pro1276=)
10g.104034274G>ACA5677792COL17A1c.3581C>T (p.Pro1194Leu)
c.3827C>T (p.Pro1276Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.104034274G>CCA5677793COL17A1c.3581C>G (p.Pro1194Arg)
c.3827C>G (p.Pro1276Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.104034274G=CA1933418505COL17A1c.3581C= (p.Pro1194=)
c.3827C= (p.Pro1276=)
10g.104034274G>TCA378065732COL17A1c.3581C>A (p.Pro1194His)
c.3827C>A (p.Pro1276His)
 gnomAD v4
10g.104034278dupCA5677791COL17A1c.3581dup (p.Gly1195TrpfsTer16)
c.3827dup (p.Gly1277TrpfsTer16)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.104034278delCA2610796364COL17A1c.3581del (p.Pro1194LeufsTer?)
c.3827del (p.Pro1276LeufsTer?)
 gnomAD v4
10g.104034274_104034280delinsGGGGGTCCA1933418506COL17A1c.3575_3581delinsGACCCCC (p.Gly1192=)
c.3821_3827delinsGACCCCC (p.Gly1274=)
10g.104034275G>ACA378065735COL17A1c.3580C>T (p.Pro1194Ser)
c.3826C>T (p.Pro1276Ser)
 dbSNP
10g.104034275G>CCA378065736COL17A1c.3580C>G (p.Pro1194Ala)
c.3826C>G (p.Pro1276Ala)
 gnomAD v4
10g.104034275G=CA1933418507COL17A1c.3580C= (p.Pro1194=)
c.3826C= (p.Pro1276=)
10g.104034275G>TCA378065737COL17A1c.3580C>A (p.Pro1194Thr)
c.3826C>A (p.Pro1276Thr)
 gnomAD v4
10g.104034275_104034280delCA596111127COL17A1c.3575_3580del (p.Gly1192_Pro1194delinsAla)
c.3821_3826del (p.Gly1274_Pro1276delinsAla)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.104034276G>ACA471503224COL17A1c.3579C>T (p.Pro1193=)
c.3825C>T (p.Pro1275=)
10g.104034276G>CCA471503223COL17A1c.3579C>G (p.Pro1193=)
c.3825C>G (p.Pro1275=)
10g.104034276G=CA1933418508COL17A1c.3579C= (p.Pro1193=)
c.3825C= (p.Pro1275=)
10g.104034276G>TCA10634863COL17A1c.3579C>A (p.Pro1193=)
c.3825C>A (p.Pro1275=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.104034277G>ACA378065740COL17A1c.3578C>T (p.Pro1193Leu)
c.3824C>T (p.Pro1275Leu)
 dbSNP gnomAD v4
10g.104034277G>CCA378065741COL17A1c.3578C>G (p.Pro1193Arg)
c.3824C>G (p.Pro1275Arg)
 dbSNP gnomAD v2 gnomAD v4
10g.104034277G=CA1933418509COL17A1c.3578C= (p.Pro1193=)
c.3824C= (p.Pro1275=)
10g.104034277G>TCA378065742COL17A1c.3578C>A (p.Pro1193His)
c.3824C>A (p.Pro1275His)
 ClinVar gnomAD v4
10g.104034278G>ACA5677794COL17A1c.3577C>T (p.Pro1193Ser)
c.3823C>T (p.Pro1275Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.104034278G>CCA378065745COL17A1c.3577C>G (p.Pro1193Ala)
c.3823C>G (p.Pro1275Ala)
10g.104034278G=CA1933418510COL17A1c.3577C= (p.Pro1193=)
c.3823C= (p.Pro1275=)
10g.104034278G>TCA378065746COL17A1c.3577C>A (p.Pro1193Thr)
c.3823C>A (p.Pro1275Thr)
 dbSNP gnomAD v4
10g.104034279T>ACA471503230COL17A1c.3576A>T (p.Gly1192=)
c.3822A>T (p.Gly1274=)
 gnomAD v4
10g.104034279T>CCA471503233COL17A1c.3576A>G (p.Gly1192=)
c.3822A>G (p.Gly1274=)
 gnomAD v4
10g.104034279T>GCA471503235COL17A1c.3576A>C (p.Gly1192=)
c.3822A>C (p.Gly1274=)
10g.104034280C>ACA378065749COL17A1c.3575G>T (p.Gly1192Val)
c.3821G>T (p.Gly1274Val)
10g.104034280C=CA1933418511COL17A1c.3575G= (p.Gly1192=)
c.3821G= (p.Gly1274=)
10g.104034280C>GCA378065748COL17A1c.3575G>C (p.Gly1192Ala)
c.3821G>C (p.Gly1274Ala)
 dbSNP
10g.104034280C>TCA5677795COL17A1c.3575G>A (p.Gly1192Glu)
c.3821G>A (p.Gly1274Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.104034281C>ACA378065751COL17A1c.3574G>T (p.Gly1192Ter)
c.3820G>T (p.Gly1274Ter)
10g.104034281C>GCA378065753COL17A1c.3574G>C (p.Gly1192Arg)
c.3820G>C (p.Gly1274Arg)
10g.104034281C>TCA378065754COL17A1c.3574G>A (p.Gly1192Arg)
c.3820G>A (p.Gly1274Arg)
10g.104034282C>ACA378065756COL17A1c.3573G>T (p.Gln1191His)
c.3819G>T (p.Gln1273His)
10g.104034282C>GCA378065757COL17A1c.3573G>C (p.Gln1191His)
c.3819G>C (p.Gln1273His)
10g.104034282C>TCA471503247COL17A1c.3573G>A (p.Gln1191=)
c.3819G>A (p.Gln1273=)
10g.104034283T>ACA378065758COL17A1c.3572A>T (p.Gln1191Leu)
c.3818A>T (p.Gln1273Leu)
 gnomAD v4
10g.104034283T>CCA378065760COL17A1c.3572A>G (p.Gln1191Arg)
c.3818A>G (p.Gln1273Arg)
 dbSNP gnomAD v3 gnomAD v4
10g.104034283T>GCA378065762COL17A1c.3572A>C (p.Gln1191Pro)
c.3818A>C (p.Gln1273Pro)
10g.104034283T=CA1933418512COL17A1c.3572A= (p.Gln1191=)
c.3818A= (p.Gln1273=)
10g.104034284G>ACA378065763COL17A1c.3571C>T (p.Gln1191Ter)
c.3817C>T (p.Gln1273Ter)
 dbSNP gnomAD v4
10g.104034284G>CCA5677796COL17A1c.3571C>G (p.Gln1191Glu)
c.3817C>G (p.Gln1273Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.104034284G=CA1933418513COL17A1c.3571C= (p.Gln1191=)
c.3817C= (p.Gln1273=)
10g.104034284G>TCA378065765COL17A1c.3571C>A (p.Gln1191Lys)
c.3817C>A (p.Gln1273Lys)
10g.104034285C>ACA471503256COL17A1c.3570G>T (p.Pro1190=)
c.3816G>T (p.Pro1272=)
 dbSNP gnomAD v4
10g.104034285C=CA1933418514COL17A1c.3570G= (p.Pro1190=)
c.3816G= (p.Pro1272=)
10g.104034285C>GCA471503257COL17A1c.3570G>C (p.Pro1190=)
c.3816G>C (p.Pro1272=)
10g.104034285C>TCA5677797COL17A1c.3570G>A (p.Pro1190=)
c.3816G>A (p.Pro1272=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.104034286G>ACA5677798COL17A1c.3569C>T (p.Pro1190Leu)
c.3815C>T (p.Pro1272Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.104034286G>CCA378065768COL17A1c.3569C>G (p.Pro1190Arg)
c.3815C>G (p.Pro1272Arg)
10g.104034286G=CA1933418515COL17A1c.3569C= (p.Pro1190=)
c.3815C= (p.Pro1272=)
10g.104034286G>TCA378065767COL17A1c.3569C>A (p.Pro1190Gln)
c.3815C>A (p.Pro1272Gln)
 gnomAD v4
10g.104034287G>ACA5677799COL17A1c.3568C>T (p.Pro1190Ser)
c.3814C>T (p.Pro1272Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.104034287G>CCA378065771COL17A1c.3568C>G (p.Pro1190Ala)
c.3814C>G (p.Pro1272Ala)
 dbSNP gnomAD v4
10g.104034287G=CA1933418516COL17A1c.3568C= (p.Pro1190=)
c.3814C= (p.Pro1272=)
10g.104034287G>TCA378065772COL17A1c.3568C>A (p.Pro1190Thr)
c.3814C>A (p.Pro1272Thr)
 gnomAD v4
10g.104034288C>ACA471503269COL17A1c.3567G>T (p.Gly1189=)
c.3813G>T (p.Gly1271=)
10g.104034288C=CA1933418517COL17A1c.3567G= (p.Gly1189=)
c.3813G= (p.Gly1271=)
10g.104034288C>GCA471503271COL17A1c.3567G>C (p.Gly1189=)
c.3813G>C (p.Gly1271=)
10g.104034288C>TCA471503274COL17A1c.3567G>A (p.Gly1189=)
c.3813G>A (p.Gly1271=)
 dbSNP gnomAD v2 gnomAD v4
10g.104034289C>ACA378065773COL17A1c.3566G>T (p.Gly1189Val)
c.3812G>T (p.Gly1271Val)
10g.104034289C>GCA378065775COL17A1c.3566G>C (p.Gly1189Ala)
c.3812G>C (p.Gly1271Ala)
 gnomAD v4
10g.104034289C>TCA378065776COL17A1c.3566G>A (p.Gly1189Glu)
c.3812G>A (p.Gly1271Glu)
 COSMIC
10g.104034290C>ACA378065778COL17A1c.3565G>T (p.Gly1189Trp)
c.3811G>T (p.Gly1271Trp)
10g.104034290C>GCA378065779COL17A1c.3565G>C (p.Gly1189Arg)
c.3811G>C (p.Gly1271Arg)
10g.104034290C>TCA378065781COL17A1c.3565G>A (p.Gly1189Arg)
c.3811G>A (p.Gly1271Arg)
10g.104034291A>CCA471503282COL17A1c.3564T>G (p.Pro1188=)
c.3810T>G (p.Pro1270=)
10g.104034291A>GCA471503284COL17A1c.3564T>C (p.Pro1188=)
c.3810T>C (p.Pro1270=)
 gnomAD v4
10g.104034291A>TCA471503285COL17A1c.3564T>A (p.Pro1188=)
c.3810T>A (p.Pro1270=)
10g.104034292G>ACA378065782COL17A1c.3563C>T (p.Pro1188Leu)
c.3809C>T (p.Pro1270Leu)
10g.104034292G>CCA378065783COL17A1c.3563C>G (p.Pro1188Arg)
c.3809C>G (p.Pro1270Arg)
10g.104034292G>TCA378065785COL17A1c.3563C>A (p.Pro1188His)
c.3809C>A (p.Pro1270His)
 gnomAD v4
10g.104034293G>ACA378065790COL17A1c.3562C>T (p.Pro1188Ser)
c.3808C>T (p.Pro1270Ser)
 gnomAD v4
10g.104034293G>CCA378065789COL17A1c.3562C>G (p.Pro1188Ala)
c.3808C>G (p.Pro1270Ala)
10g.104034293G>TCA378065787COL17A1c.3562C>A (p.Pro1188Thr)
c.3808C>A (p.Pro1270Thr)
 gnomAD v4
10g.104034294A=CA1933418518COL17A1c.3561T= (p.Pro1187=)
c.3807T= (p.Pro1269=)
10g.104034294A>CCA471503289COL17A1c.3561T>G (p.Pro1187=)
c.3807T>G (p.Pro1269=)
10g.104034294A>GCA471503290COL17A1c.3561T>C (p.Pro1187=)
c.3807T>C (p.Pro1269=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.104034294A>TCA471503291COL17A1c.3561T>A (p.Pro1187=)
c.3807T>A (p.Pro1269=)
 dbSNP
10g.104034295G>ACA378065791COL17A1c.3560C>T (p.Pro1187Leu)
c.3806C>T (p.Pro1269Leu)
10g.104034295G>CCA378065793COL17A1c.3560C>G (p.Pro1187Arg)
c.3806C>G (p.Pro1269Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.104034295G=CA1933418519COL17A1c.3560C= (p.Pro1187=)
c.3806C= (p.Pro1269=)
10g.104034295G>TCA378065794COL17A1c.3560C>A (p.Pro1187His)
c.3806C>A (p.Pro1269His)
 gnomAD v4
10g.104034297delCA2695212674COL17A1c.3560del (p.Pro1187LeufsTer?)
c.3806del (p.Pro1269LeufsTer?)
10g.104034296G>ACA378065796COL17A1c.3559C>T (p.Pro1187Ser)
c.3805C>T (p.Pro1269Ser)
 dbSNP gnomAD v4
10g.104034296G>CCA378065798COL17A1c.3559C>G (p.Pro1187Ala)
c.3805C>G (p.Pro1269Ala)
10g.104034296G=CA1933418520COL17A1c.3559C= (p.Pro1187=)
c.3805C= (p.Pro1269=)
10g.104034296G>TCA378065799COL17A1c.3559C>A (p.Pro1187Thr)
c.3805C>A (p.Pro1269Thr)
 gnomAD v4
10g.104034297G>ACA471503300COL17A1c.3558C>T (p.Gly1186=)
c.3804C>T (p.Gly1268=)
10g.104034297G>CCA471503299COL17A1c.3558C>G (p.Gly1186=)
c.3804C>G (p.Gly1268=)
10g.104034297G>TCA471503298COL17A1c.3558C>A (p.Gly1186=)
c.3804C>A (p.Gly1268=)
 gnomAD v4
10g.104034298C>ACA378065800COL17A1c.3557G>T (p.Gly1186Val)
c.3803G>T (p.Gly1268Val)
 gnomAD v4
10g.104034298C=CA1933418521COL17A1c.3557G= (p.Gly1186=)
c.3803G= (p.Gly1268=)
10g.104034298C>GCA378065801COL17A1c.3557G>C (p.Gly1186Ala)
c.3803G>C (p.Gly1268Ala)
 dbSNP gnomAD v3 gnomAD v4
10g.104034298C>TCA378065803COL17A1c.3557G>A (p.Gly1186Asp)
c.3803G>A (p.Gly1268Asp)
10g.104034299C>ACA378065805COL17A1c.3556G>T (p.Gly1186Cys)
c.3802G>T (p.Gly1268Cys)
 gnomAD v4
10g.104034299C>GCA378065806COL17A1c.3556G>C (p.Gly1186Arg)
c.3802G>C (p.Gly1268Arg)
10g.104034299C>TCA378065808COL17A1c.3556G>A (p.Gly1186Ser)
c.3802G>A (p.Gly1268Ser)
 gnomAD v4
10g.104034300T>ACA471503303COL17A1c.3555A>T (p.Pro1185=)
c.3801A>T (p.Pro1267=)
10g.104034300T>CCA471503304COL17A1c.3555A>G (p.Pro1185=)
c.3801A>G (p.Pro1267=)
 gnomAD v4
10g.104034300T>GCA471503306COL17A1c.3555A>C (p.Pro1185=)
c.3801A>C (p.Pro1267=)
 dbSNP gnomAD v2 gnomAD v4
10g.104034300T=CA1933418522COL17A1c.3555A= (p.Pro1185=)
c.3801A= (p.Pro1267=)
10g.104034301G>ACA378065813COL17A1c.3554C>T (p.Pro1185Leu)
c.3800C>T (p.Pro1267Leu)
10g.104034301G>CCA378065811COL17A1c.3554C>G (p.Pro1185Arg)
c.3800C>G (p.Pro1267Arg)
 gnomAD v4
10g.104034301G>TCA378065809COL17A1c.3554C>A (p.Pro1185Gln)
c.3800C>A (p.Pro1267Gln)
 gnomAD v4
10g.104034306dupCA5677800COL17A1c.3554dup (p.Gly1186ArgfsTer25)
c.3800dup (p.Gly1268ArgfsTer25)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.104034306delCA645568153COL17A1c.3554del (p.Pro1185GlnfsTer?)
c.3800del (p.Pro1267GlnfsTer?)
 gnomAD v4 COSMIC
10g.104034302G>ACA378065816COL17A1c.3553C>T (p.Pro1185Ser)
c.3799C>T (p.Pro1267Ser)
 gnomAD v4
10g.104034302G>CCA378065814COL17A1c.3553C>G (p.Pro1185Ala)
c.3799C>G (p.Pro1267Ala)
10g.104034302G>TCA378065818COL17A1c.3553C>A (p.Pro1185Thr)
c.3799C>A (p.Pro1267Thr)
 gnomAD v4
10g.104034303G>ACA471503312COL17A1c.3552C>T (p.Pro1184=)
c.3798C>T (p.Pro1266=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
10g.104034303G>CCA471503313COL17A1c.3552C>G (p.Pro1184=)
c.3798C>G (p.Pro1266=)
 gnomAD v4
10g.104034303G=CA1933418523COL17A1c.3552C= (p.Pro1184=)
c.3798C= (p.Pro1266=)
10g.104034303G>TCA471503314COL17A1c.3552C>A (p.Pro1184=)
c.3798C>A (p.Pro1266=)
 gnomAD v4
10g.104034304G>ACA378065819COL17A1c.3551C>T (p.Pro1184Leu)
c.3797C>T (p.Pro1266Leu)
 dbSNP gnomAD v2 gnomAD v4
10g.104034304G>CCA378065821COL17A1c.3551C>G (p.Pro1184Arg)
c.3797C>G (p.Pro1266Arg)
10g.104034304G=CA1933418524COL17A1c.3551C= (p.Pro1184=)
c.3797C= (p.Pro1266=)
10g.104034304G>TCA378065822COL17A1c.3551C>A (p.Pro1184His)
c.3797C>A (p.Pro1266His)
 gnomAD v4
10g.104034305G>ACA378065824COL17A1c.3550C>T (p.Pro1184Ser)
c.3796C>T (p.Pro1266Ser)
 dbSNP gnomAD v2 gnomAD v4
10g.104034305G>CCA378065825COL17A1c.3550C>G (p.Pro1184Ala)
c.3796C>G (p.Pro1266Ala)
10g.104034305G=CA1933418525COL17A1c.3550C= (p.Pro1184=)
c.3796C= (p.Pro1266=)
10g.104034305G>TCA378065827COL17A1c.3550C>A (p.Pro1184Thr)
c.3796C>A (p.Pro1266Thr)
 ClinVar
10g.104034306G>ACA471503318COL17A1c.3549C>T (p.Gly1183=)
c.3795C>T (p.Gly1265=)
 dbSNP gnomAD v3 gnomAD v4
10g.104034306G>CCA471503319COL17A1c.3549C>G (p.Gly1183=)
c.3795C>G (p.Gly1265=)
 dbSNP
10g.104034306G=CA1933418526COL17A1c.3549C= (p.Gly1183=)
c.3795C= (p.Gly1265=)
10g.104034306G>TCA471503320COL17A1c.3549C>A (p.Gly1183=)
c.3795C>A (p.Gly1265=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.104034307C>ACA378065831COL17A1c.3548G>T (p.Gly1183Val)
c.3794G>T (p.Gly1265Val)
 gnomAD v4
10g.104034307C=CA1933418527COL17A1c.3548G= (p.Gly1183=)
c.3794G= (p.Gly1265=)
10g.104034307C>GCA378065829COL17A1c.3548G>C (p.Gly1183Ala)
c.3794G>C (p.Gly1265Ala)
10g.104034307C>TCA5677801COL17A1c.3548G>A (p.Gly1183Asp)
c.3794G>A (p.Gly1265Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.104034308C>ACA378065833COL17A1c.3547G>T (p.Gly1183Cys)
c.3793G>T (p.Gly1265Cys)
 gnomAD v4
10g.104034308C=CA1933418528COL17A1c.3547G= (p.Gly1183=)
c.3793G= (p.Gly1265=)
10g.104034308C>GCA378065835COL17A1c.3547G>C (p.Gly1183Arg)
c.3793G>C (p.Gly1265Arg)
10g.104034308C>TCA378065836COL17A1c.3547G>A (p.Gly1183Ser)
c.3793G>A (p.Gly1265Ser)
 dbSNP gnomAD v2 gnomAD v4
10g.104034309A>CCA471503326COL17A1c.3546T>G (p.Val1182=)
c.3792T>G (p.Val1264=)
10g.104034309A>GCA471503331COL17A1c.3546T>C (p.Val1182=)
c.3792T>C (p.Val1264=)
10g.104034309A>TCA471503328COL17A1c.3546T>A (p.Val1182=)
c.3792T>A (p.Val1264=)
 gnomAD v4
10g.104034310A=CA1933418529COL17A1c.3545T= (p.Val1182=)
c.3791T= (p.Val1264=)
10g.104034310A>CCA378065837COL17A1c.3545T>G (p.Val1182Gly)
c.3791T>G (p.Val1264Gly)
10g.104034310A>GCA5677802COL17A1c.3545T>C (p.Val1182Ala)
c.3791T>C (p.Val1264Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.104034310A>TCA378065838COL17A1c.3545T>A (p.Val1182Asp)
c.3791T>A (p.Val1264Asp)
10g.104034311C>ACA378065839COL17A1c.3544G>T (p.Val1182Phe)
c.3790G>T (p.Val1264Phe)
 gnomAD v4
10g.104034311C=CA1933418530COL17A1c.3544G= (p.Val1182=)
c.3790G= (p.Val1264=)
10g.104034311C>GCA378065840COL17A1c.3544G>C (p.Val1182Leu)
c.3790G>C (p.Val1264Leu)
10g.104034311C>TCA5677803COL17A1c.3544G>A (p.Val1182Ile)
c.3790G>A (p.Val1264Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.104034312A>CCA378065841COL17A1c.3543T>G (p.Ile1181Met)
c.3789T>G (p.Ile1263Met)
10g.104034312A>GCA471503337COL17A1c.3543T>C (p.Ile1181=)
c.3789T>C (p.Ile1263=)
10g.104034312A>TCA471503338COL17A1c.3543T>A (p.Ile1181=)
c.3789T>A (p.Ile1263=)
10g.104034314_104034317delCA2695212675COL17A1c.3540_3543del (p.Phe1180LeufsTer?)
c.3786_3789del (p.Phe1262LeufsTer?)
10g.104034313A=CA1933418531COL17A1c.3542T= (p.Ile1181=)
c.3788T= (p.Ile1263=)
10g.104034313A>CCA378065842COL17A1c.3542T>G (p.Ile1181Ser)
c.3788T>G (p.Ile1263Ser)
10g.104034313A>GCA5677804COL17A1c.3542T>C (p.Ile1181Thr)
c.3788T>C (p.Ile1263Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.104034313A>TCA378065843COL17A1c.3542T>A (p.Ile1181Asn)
c.3788T>A (p.Ile1263Asn)
10g.104034314T>ACA378065844COL17A1c.3541A>T (p.Ile1181Phe)
c.3787A>T (p.Ile1263Phe)
10g.104034314T>CCA212450285COL17A1c.3541A>G (p.Ile1181Val)
c.3787A>G (p.Ile1263Val)
 dbSNP gnomAD v3 gnomAD v4
10g.104034314T>GCA378065845COL17A1c.3541A>C (p.Ile1181Leu)
c.3787A>C (p.Ile1263Leu)
10g.104034314T=CA1933418532COL17A1c.3541A= (p.Ile1181=)
c.3787A= (p.Ile1263=)
10g.104034315G>ACA471503342COL17A1c.3540C>T (p.Phe1180=)
c.3786C>T (p.Phe1262=)
10g.104034315G>CCA378065846COL17A1c.3540C>G (p.Phe1180Leu)
c.3786C>G (p.Phe1262Leu)
10g.104034315G>TCA378065847COL17A1c.3540C>A (p.Phe1180Leu)
c.3786C>A (p.Phe1262Leu)
 gnomAD v4
10g.104034316A>CCA378065848COL17A1c.3539T>G (p.Phe1180Cys)
c.3785T>G (p.Phe1262Cys)
10g.104034316A>GCA378065849COL17A1c.3539T>C (p.Phe1180Ser)
c.3785T>C (p.Phe1262Ser)
10g.104034316A>TCA378065850COL17A1c.3539T>A (p.Phe1180Tyr)
c.3785T>A (p.Phe1262Tyr)
10g.104034317A=CA1933418533COL17A1c.3538T= (p.Phe1180=)
c.3784T= (p.Phe1262=)
10g.104034317A>CCA378065851COL17A1c.3538T>G (p.Phe1180Val)
c.3784T>G (p.Phe1262Val)
10g.104034317A>GCA378065853COL17A1c.3538T>C (p.Phe1180Leu)
c.3784T>C (p.Phe1262Leu)
 dbSNP gnomAD v2 gnomAD v4
10g.104034317A>TCA378065852COL17A1c.3538T>A (p.Phe1180Ile)
c.3784T>A (p.Phe1262Ile)
10g.104034318G>ACA471503355COL17A1c.3537C>T (p.Ser1179=)
c.3783C>T (p.Ser1261=)
 dbSNP gnomAD v4
10g.104034318G>CCA378065854COL17A1c.3537C>G (p.Ser1179Arg)
c.3783C>G (p.Ser1261Arg)
10g.104034318G=CA1933418534COL17A1c.3537C= (p.Ser1179=)
c.3783C= (p.Ser1261=)
10g.104034318G>TCA378065855COL17A1c.3537C>A (p.Ser1179Arg)
c.3783C>A (p.Ser1261Arg)
 gnomAD v4
10g.104034319C>ACA378065856COL17A1c.3536G>T (p.Ser1179Ile)
c.3782G>T (p.Ser1261Ile)
 dbSNP gnomAD v2 gnomAD v4
10g.104034319C=CA1933418535COL17A1c.3536G= (p.Ser1179=)
c.3782G= (p.Ser1261=)
10g.104034319C>GCA378065857COL17A1c.3536G>C (p.Ser1179Thr)
c.3782G>C (p.Ser1261Thr)
 gnomAD v4
10g.104034319C>TCA378065858COL17A1c.3536G>A (p.Ser1179Asn)
c.3782G>A (p.Ser1261Asn)
 dbSNP gnomAD v2 gnomAD v4
10g.104034320T>ACA378065859COL17A1c.3535A>T (p.Ser1179Cys)
c.3781A>T (p.Ser1261Cys)
10g.104034320T>CCA378065860COL17A1c.3535A>G (p.Ser1179Gly)
c.3781A>G (p.Ser1261Gly)
 gnomAD v4
10g.104034320T>GCA378065861COL17A1c.3535A>C (p.Ser1179Arg)
c.3781A>C (p.Ser1261Arg)
10g.104034321G>ACA471503357COL17A1c.3534C>T (p.Arg1178=)
c.3780C>T (p.Arg1260=)
 gnomAD v4
10g.104034321G>CCA471503358COL17A1c.3534C>G (p.Arg1178=)
c.3780C>G (p.Arg1260=)
10g.104034321G>TCA471503359COL17A1c.3534C>A (p.Arg1178=)
c.3780C>A (p.Arg1260=)
 gnomAD v4
10g.104034322C>ACA378065862COL17A1c.3533G>T (p.Arg1178Leu)
c.3779G>T (p.Arg1260Leu)
 gnomAD v4
10g.104034322C=CA1933418536COL17A1c.3533G= (p.Arg1178=)
c.3779G= (p.Arg1260=)
10g.104034322C>GCA378065863COL17A1c.3533G>C (p.Arg1178Pro)
c.3779G>C (p.Arg1260Pro)
10g.104034322C>TCA5677805COL17A1c.3533G>A (p.Arg1178His)
c.3779G>A (p.Arg1260His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.104034323delCA2574660667COL17A1c.3532del (p.Arg1178AlafsTer?)
c.3778del (p.Arg1260AlafsTer?)
10g.104034323G>ACA5677807COL17A1c.3532C>T (p.Arg1178Cys)
c.3778C>T (p.Arg1260Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.104034323G>CCA5677806COL17A1c.3532C>G (p.Arg1178Gly)
c.3778C>G (p.Arg1260Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.104034323G=CA1933418537COL17A1c.3532C= (p.Arg1178=)
c.3778C= (p.Arg1260=)
10g.104034323G>TCA378065864COL17A1c.3532C>A (p.Arg1178Ser)
c.3778C>A (p.Arg1260Ser)
 gnomAD v4
10g.104034324C>ACA471503366COL17A1c.3531G>T (p.Val1177=)
c.3777G>T (p.Val1259=)
 gnomAD v4
10g.104034324C=CA1933418538COL17A1c.3531G= (p.Val1177=)
c.3777G= (p.Val1259=)
10g.104034324C>GCA471503369COL17A1c.3531G>C (p.Val1177=)
c.3777G>C (p.Val1259=)
10g.104034324C>TCA5677808COL17A1c.3531G>A (p.Val1177=)
c.3777G>A (p.Val1259=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.104034325A=CA1933418539COL17A1c.3530T= (p.Val1177=)
c.3776T= (p.Val1259=)
10g.104034325A>CCA378065865COL17A1c.3530T>G (p.Val1177Gly)
c.3776T>G (p.Val1259Gly)
10g.104034325A>GCA378065866COL17A1c.3530T>C (p.Val1177Ala)
c.3776T>C (p.Val1259Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.104034325A>TCA378065867COL17A1c.3530T>A (p.Val1177Glu)
c.3776T>A (p.Val1259Glu)
10g.104034326delCA2610796365COL17A1c.3529del (p.Val1177CysfsTer?)
c.3775del (p.Val1259CysfsTer?)
 gnomAD v4
10g.104034326C>ACA378065868COL17A1c.3529G>T (p.Val1177Leu)
c.3775G>T (p.Val1259Leu)
 gnomAD v4
10g.104034326C=CA1933418540COL17A1c.3529G= (p.Val1177=)
c.3775G= (p.Val1259=)
10g.104034326C>GCA378065869COL17A1c.3529G>C (p.Val1177Leu)
c.3775G>C (p.Val1259Leu)
10g.104034326C>TCA5677809COL17A1c.3529G>A (p.Val1177Met)
c.3775G>A (p.Val1259Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.104034327A>CCA378065870COL17A1c.3528T>G (p.Asp1176Glu)
c.3774T>G (p.Asp1258Glu)
10g.104034327A>GCA471503376COL17A1c.3528T>C (p.Asp1176=)
c.3774T>C (p.Asp1258=)
 gnomAD v4
10g.104034327A>TCA378065871COL17A1c.3528T>A (p.Asp1176Glu)
c.3774T>A (p.Asp1258Glu)
10g.104034328T>ACA378065872COL17A1c.3527A>T (p.Asp1176Val)
c.3773A>T (p.Asp1258Val)
10g.104034328T>CCA378065873COL17A1c.3527A>G (p.Asp1176Gly)
c.3773A>G (p.Asp1258Gly)
 dbSNP gnomAD v4
10g.104034328T>GCA378065874COL17A1c.3527A>C (p.Asp1176Ala)
c.3773A>C (p.Asp1258Ala)
10g.104034328T=CA1933418541COL17A1c.3527A= (p.Asp1176=)
c.3773A= (p.Asp1258=)
10g.104034329C>ACA378065876COL17A1c.3526G>T (p.Asp1176Tyr)
c.3772G>T (p.Asp1258Tyr)
 gnomAD v4
10g.104034329C=CA1933418543COL17A1c.3526G= (p.Asp1176=)
c.3772G= (p.Asp1258=)
10g.104034329C>GCA378065875COL17A1c.3526G>C (p.Asp1176His)
c.3772G>C (p.Asp1258His)
10g.104034329C>TCA5677810COL17A1c.3526G>A (p.Asp1176Asn)
c.3772G>A (p.Asp1258Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.104034330_104034335dupCA1933418542COL17A1c.3521_3526dup
c.3767_3772dup
 dbSNP gnomAD v4
10g.104034330delCA2610796366COL17A1c.3525del (p.Asp1176MetfsTer?)
c.3771del (p.Asp1258MetfsTer?)
 gnomAD v4
10g.104034330A=CA1933418544COL17A1c.3525T= (p.Pro1175=)
c.3771T= (p.Pro1257=)
10g.104034330A>CCA471502568COL17A1c.3525T>G (p.Pro1175=)
c.3771T>G (p.Pro1257=)
 gnomAD v4
10g.104034330A>GCA471502569COL17A1c.3525T>C (p.Pro1175=)
c.3771T>C (p.Pro1257=)
 dbSNP gnomAD v3 gnomAD v4
10g.104034330A>TCA471502570COL17A1c.3525T>A (p.Pro1175=)
c.3771T>A (p.Pro1257=)
 dbSNP gnomAD v2 gnomAD v4
10g.104034331G>ACA378065877COL17A1c.3524C>T (p.Pro1175Leu)
c.3770C>T (p.Pro1257Leu)
10g.104034331G>CCA378065879COL17A1c.3524C>G (p.Pro1175Arg)
c.3770C>G (p.Pro1257Arg)
10g.104034331G>TCA378065878COL17A1c.3524C>A (p.Pro1175His)
c.3770C>A (p.Pro1257His)
10g.104034332G>ACA378065880COL17A1c.3523C>T (p.Pro1175Ser)
c.3769C>T (p.Pro1257Ser)
 gnomAD v4
10g.104034332G>CCA378065881COL17A1c.3523C>G (p.Pro1175Ala)
c.3769C>G (p.Pro1257Ala)
10g.104034332G=CA1933418545COL17A1c.3523C= (p.Pro1175=)
c.3769C= (p.Pro1257=)
10g.104034332G>TCA378065882COL17A1c.3523C>A (p.Pro1175Thr)
c.3769C>A (p.Pro1257Thr)
 dbSNP gnomAD v4
10g.104034333A>CCA378065883COL17A1c.3522T>G (p.Ser1174Arg)
c.3768T>G (p.Ser1256Arg)
 gnomAD v4
10g.104034333A>GCA471502576COL17A1c.3522T>C (p.Ser1174=)
c.3768T>C (p.Ser1256=)
10g.104034333A>TCA378065884COL17A1c.3522T>A (p.Ser1174Arg)
c.3768T>A (p.Ser1256Arg)
10g.104034334C>ACA378065885COL17A1c.3521G>T (p.Ser1174Ile)
c.3767G>T (p.Ser1256Ile)
10g.104034334C=CA1933418546COL17A1c.3521G= (p.Ser1174=)
c.3767G= (p.Ser1256=)
10g.104034334C>GCA378065886COL17A1c.3521G>C (p.Ser1174Thr)
c.3767G>C (p.Ser1256Thr)
10g.104034334C>TCA378065887COL17A1c.3521G>A (p.Ser1174Asn)
c.3767G>A (p.Ser1256Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.104034335C>ACA378065888COL17A1c.3521-1G>T (n.3521-1G>T)
c.3767-1G>T (n.3767-1G>T)
 gnomAD v4
10g.104034335C=CA1933418547COL17A1c.3521-1G= (n.3521-1G=)
c.3767-1G= (n.3767-1G=)
10g.104034335C>GCA212450303COL17A1c.3521-1G>C (n.3521-1G>C)
c.3767-1G>C (n.3767-1G>C)
 dbSNP
10g.104034335C>TCA212450305COL17A1c.3521-1G>A (n.3521-1G>A)
c.3767-1G>A (n.3767-1G>A)
 dbSNP
10g.104034336T>ACA378065891COL17A1c.3521-2A>T (n.3521-2A>T)
c.3767-2A>T (n.3767-2A>T)
 gnomAD v4
10g.104034336T>CCA378065890COL17A1c.3521-2A>G (n.3521-2A>G)
c.3767-2A>G (n.3767-2A>G)
 dbSNP gnomAD v4
10g.104034336T>GCA378065889COL17A1c.3521-2A>C (n.3521-2A>C)
c.3767-2A>C (n.3767-2A>C)
10g.104034336T=CA1933418548COL17A1c.3521-2A= (n.3521-2A=)
c.3767-2A= (n.3767-2A=)
10g.104034337G>ACA2610796367COL17A1c.3521-3C>T (n.3521-3C>T)
c.3767-3C>T (n.3767-3C>T)
 gnomAD v4
10g.104034337G>TCA2610796368COL17A1c.3521-3C>A (n.3521-3C>A)
c.3767-3C>A (n.3767-3C>A)
 gnomAD v4
10g.104034338C>ACA2610796369COL17A1c.3521-4G>T (n.3521-4G>T)
c.3767-4G>T (n.3767-4G>T)
 gnomAD v4
10g.104034338C>TCA2610796370COL17A1c.3521-4G>A (n.3521-4G>A)
c.3767-4G>A (n.3767-4G>A)
 gnomAD v4
10g.104034339A>GCA2610796371COL17A1c.3521-5T>C (n.3521-5T>C)
c.3767-5T>C (n.3767-5T>C)
 gnomAD v4
10g.104034339A>TCA2610796372COL17A1c.3521-5T>A (n.3521-5T>A)
c.3767-5T>A (n.3767-5T>A)
 gnomAD v4
10g.104034340G>ACA5677811COL17A1c.3521-6C>T (n.3521-6C>T)
c.3767-6C>T (n.3767-6C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.104034340G>CCA659194373COL17A1c.3521-6C>G (n.3521-6C>G)
c.3767-6C>G (n.3767-6C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.104034340G=CA1933418549COL17A1c.3521-6C= (n.3521-6C=)
c.3767-6C= (n.3767-6C=)
10g.104034340G>TCA2610796373COL17A1c.3521-6C>A (n.3521-6C>A)
c.3767-6C>A (n.3767-6C>A)
 gnomAD v4
10g.104034341G>ACA212450314COL17A1c.3521-7C>T (n.3521-7C>T)
c.3767-7C>T (n.3767-7C>T)
 dbSNP gnomAD v4
10g.104034341G=CA1933418550COL17A1c.3521-7C= (n.3521-7C=)
c.3767-7C= (n.3767-7C=)
10g.104034341G>TCA2610796374COL17A1c.3521-7C>A (n.3521-7C>A)
c.3767-7C>A (n.3767-7C>A)
 gnomAD v4
10g.104034342G>ACA2610796375COL17A1c.3521-8C>T (n.3521-8C>T)
c.3767-8C>T (n.3767-8C>T)
 ClinVar gnomAD v4
10g.104034342G=CA1933418551COL17A1c.3521-8C= (n.3521-8C=)
c.3767-8C= (n.3767-8C=)
10g.104034342G>TCA1933418552COL17A1c.3521-8C>A (n.3521-8C>A)
c.3767-8C>A (n.3767-8C>A)
 dbSNP gnomAD v4
10g.104034343T>CCA2610796376COL17A1c.3521-9A>G (n.3521-9A>G)
c.3767-9A>G (n.3767-9A>G)
 gnomAD v4
10g.104034343T>GCA2610796377COL17A1c.3521-9A>C (n.3521-9A>C)
c.3767-9A>C (n.3767-9A>C)
 gnomAD v4
10g.104034343_104034345delinsTGACA1933418553COL17A1c.3521-11_3521-9delinsTCA (n.3521-11_3521-9delinsTCA)
c.3767-11_3767-9delinsTCA (n.3767-11_3767-9delinsTCA)
10g.104034344G>ACA5677812COL17A1c.3521-10C>T (n.3521-10C>T)
c.3767-10C>T (n.3767-10C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.104034344G=CA1933418554COL17A1c.3521-10C= (n.3521-10C=)
c.3767-10C= (n.3767-10C=)
10g.104034344G>TCA2610796378COL17A1c.3521-10C>A (n.3521-10C>A)
c.3767-10C>A (n.3767-10C>A)
 gnomAD v4
10g.104034346_104034347delCA212450319COL17A1c.3521-11_3521-10del (n.3521-11_3521-10del)
c.3767-11_3767-10del (n.3767-11_3767-10del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.104034345A>GCA2610796379COL17A1c.3521-11T>C (n.3521-11T>C)
c.3767-11T>C (n.3767-11T>C)
 gnomAD v4
10g.104034345A>TCA2610796380COL17A1c.3521-11T>A (n.3521-11T>A)
c.3767-11T>A (n.3767-11T>A)
 gnomAD v4
10g.104034346G>ACA659194381COL17A1c.3521-12C>T (n.3521-12C>T)
c.3767-12C>T (n.3767-12C>T)
 dbSNP gnomAD v4
10g.104034346G=CA1933418555COL17A1c.3521-12C= (n.3521-12C=)
c.3767-12C= (n.3767-12C=)
10g.104034346G>TCA2610796381COL17A1c.3521-12C>A (n.3521-12C>A)
c.3767-12C>A (n.3767-12C>A)
 gnomAD v4
10g.104034348A>CCA2789320505COL17A1c.3521-14T>G (n.3521-14T>G)
c.3767-14T>G (n.3767-14T>G)
10g.104034348A>TCA2610796382COL17A1c.3521-14T>A (n.3521-14T>A)
c.3767-14T>A (n.3767-14T>A)
 gnomAD v4
10g.104034348_104034351delinsAGCTCA1933418556COL17A1c.3521-17_3521-14delinsAGCT (n.3521-17_3521-14delinsAGCT)
c.3767-17_3767-14delinsAGCT (n.3767-17_3767-14delinsAGCT)
10g.104034349G>ACA5677813COL17A1c.3521-15C>T (n.3521-15C>T)
c.3767-15C>T (n.3767-15C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.104034349G=CA1933418557COL17A1c.3521-15C= (n.3521-15C=)
c.3767-15C= (n.3767-15C=)
10g.104034349G>TCA2610796383COL17A1c.3521-15C>A (n.3521-15C>A)
c.3767-15C>A (n.3767-15C>A)
 gnomAD v4
10g.104034351_104034353delCA596111128COL17A1c.3521-17_3521-15del (n.3521-17_3521-15del)
c.3767-17_3767-15del (n.3767-17_3767-15del)
 dbSNP gnomAD v2 gnomAD v4
10g.104034350C>ACA2610796384COL17A1c.3521-16G>T (n.3521-16G>T)
c.3767-16G>T (n.3767-16G>T)
 gnomAD v4
10g.104034350C>GCA2574660668COL17A1c.3521-16G>C (n.3521-16G>C)
c.3767-16G>C (n.3767-16G>C)
 gnomAD v4
10g.104034350C>TCA2610796385COL17A1c.3521-16G>A (n.3521-16G>A)
c.3767-16G>A (n.3767-16G>A)
 gnomAD v4
10g.104034351T>CCA2610796386COL17A1c.3521-17A>G (n.3521-17A>G)
c.3767-17A>G (n.3767-17A>G)
 gnomAD v4
10g.104034352delCA2610796387COL17A1c.3521-18del (n.3521-18del)
c.3767-18del (n.3767-18del)
 gnomAD v4
10g.104034352G>ACA2610796388COL17A1c.3521-18C>T (n.3521-18C>T)
c.3767-18C>T (n.3767-18C>T)
 gnomAD v4
10g.104034352G>TCA2610796389COL17A1c.3521-18C>A (n.3521-18C>A)
c.3767-18C>A (n.3767-18C>A)
 gnomAD v4
10g.104034353C>ACA2610796390COL17A1c.3521-19G>T (n.3521-19G>T)
c.3767-19G>T (n.3767-19G>T)
 gnomAD v4
10g.104034353C=CA1933418558COL17A1c.3521-19G= (n.3521-19G=)
c.3767-19G= (n.3767-19G=)
10g.104034353C>GCA2610796391COL17A1c.3521-19G>C (n.3521-19G>C)
c.3767-19G>C (n.3767-19G>C)
 gnomAD v4
10g.104034353C>TCA212450334COL17A1c.3521-19G>A (n.3521-19G>A)
c.3767-19G>A (n.3767-19G>A)
 dbSNP gnomAD v4
10g.104034354A>GCA2610796392COL17A1c.3521-20T>C (n.3521-20T>C)
c.3767-20T>C (n.3767-20T>C)
 ClinVar gnomAD v4
10g.104034355T>CCA659194392COL17A1c.3521-21A>G (n.3521-21A>G)
c.3767-21A>G (n.3767-21A>G)
 dbSNP gnomAD v3 gnomAD v4
10g.104034355T=CA1933418559COL17A1c.3521-21A= (n.3521-21A=)
c.3767-21A= (n.3767-21A=)
10g.104034356G>ACA596111129COL17A1c.3521-22C>T (n.3521-22C>T)
c.3767-22C>T (n.3767-22C>T)
 dbSNP gnomAD v2 gnomAD v4
10g.104034356G>CCA2610796394COL17A1c.3521-22C>G (n.3521-22C>G)
c.3767-22C>G (n.3767-22C>G)
 gnomAD v4
10g.104034356G=CA1933418560COL17A1c.3521-22C= (n.3521-22C=)
c.3767-22C= (n.3767-22C=)
10g.104034356G>TCA2610796393COL17A1c.3521-22C>A (n.3521-22C>A)
c.3767-22C>A (n.3767-22C>A)
 gnomAD v4
10g.104034357A=CA1933418561COL17A1c.3521-23T= (n.3521-23T=)
c.3767-23T= (n.3767-23T=)
10g.104034357A>CCA2610796395COL17A1c.3521-23T>G (n.3521-23T>G)
c.3767-23T>G (n.3767-23T>G)
 gnomAD v4
10g.104034357A>GCA659194406COL17A1c.3521-23T>C (n.3521-23T>C)
c.3767-23T>C (n.3767-23T>C)
 dbSNP gnomAD v3 gnomAD v4
10g.104034358G>ACA212450339COL17A1c.3521-24C>T (n.3521-24C>T)
c.3767-24C>T (n.3767-24C>T)
 dbSNP gnomAD v4
10g.104034358G>CCA2610796396COL17A1c.3521-24C>G (n.3521-24C>G)
c.3767-24C>G (n.3767-24C>G)
 gnomAD v4
10g.104034358G=CA1933418562COL17A1c.3521-24C= (n.3521-24C=)
c.3767-24C= (n.3767-24C=)
10g.104034358G>TCA2610796397COL17A1c.3521-24C>A (n.3521-24C>A)
c.3767-24C>A (n.3767-24C>A)
 gnomAD v4
10g.104034360G>ACA5677814COL17A1c.3521-26C>T (n.3521-26C>T)
c.3767-26C>T (n.3767-26C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.104034360G=CA1933418563COL17A1c.3521-26C= (n.3521-26C=)
c.3767-26C= (n.3767-26C=)
10g.104034360G>TCA2610796398COL17A1c.3521-26C>A (n.3521-26C>A)
c.3767-26C>A (n.3767-26C>A)
 gnomAD v4
10g.104034361G>ACA2610796399COL17A1c.3521-27C>T (n.3521-27C>T)
c.3767-27C>T (n.3767-27C>T)
 gnomAD v4
10g.104034361G>CCA2610796400COL17A1c.3521-27C>G (n.3521-27C>G)
c.3767-27C>G (n.3767-27C>G)
 gnomAD v4
10g.104034361G>TCA2610796401COL17A1c.3521-27C>A (n.3521-27C>A)
c.3767-27C>A (n.3767-27C>A)
 gnomAD v4
10g.104034362G>ACA596111130COL17A1c.3521-28C>T (n.3521-28C>T)
c.3767-28C>T (n.3767-28C>T)
 dbSNP gnomAD v2 gnomAD v4
10g.104034362G>CCA2610796402COL17A1c.3521-28C>G (n.3521-28C>G)
c.3767-28C>G (n.3767-28C>G)
 gnomAD v4
10g.104034362G=CA1933418564COL17A1c.3521-28C= (n.3521-28C=)
c.3767-28C= (n.3767-28C=)
10g.104034362G>TCA2610796403COL17A1c.3521-28C>A (n.3521-28C>A)
c.3767-28C>A (n.3767-28C>A)
 gnomAD v4
10g.104034363A=CA1933418565COL17A1c.3521-29T= (n.3521-29T=)
c.3767-29T= (n.3767-29T=)
10g.104034363A>GCA212450342COL17A1c.3521-29T>C (n.3521-29T>C)
c.3767-29T>C (n.3767-29T>C)
 dbSNP gnomAD v4
10g.104034364G>ACA2574660669COL17A1c.3521-30C>T (n.3521-30C>T)
c.3767-30C>T (n.3767-30C>T)
 gnomAD v4
10g.104034364G>TCA2610796404COL17A1c.3521-30C>A (n.3521-30C>A)
c.3767-30C>A (n.3767-30C>A)
 gnomAD v4

Number of alleles fetched