Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.95478145_95480646delCA891843141PTCH1c.549-54_1063del
c.744-54_1258del
c.294-54_808del
c.747-54_1261del
c.384-54_898del
c.-94-54_421del
n.935-54_1449del
n.1652-54_2166del
 ClinVar
9g.95479038C>ACA374119284PTCH1c.979G>T (p.Ala327Ser)
c.1174G>T (p.Ala392Ser)
c.724G>T (p.Ala242Ser)
c.1177G>T (p.Ala393Ser)
c.328G>T (p.Ala110Ser)
c.814G>T (p.Ala272Ser)
c.337G>T (p.Ala113Ser)
n.1365G>T
n.2082G>T
 gnomAD v4
9g.95479038C=CA1865649471PTCH1c.979G= (p.Ala327=)
c.1174G= (p.Ala392=)
c.724G= (p.Ala242=)
c.1177G= (p.Ala393=)
c.328G= (p.Ala110=)
c.814G= (p.Ala272=)
c.337G= (p.Ala113=)
n.1365G=
n.2082G=
9g.95479038C>GCA374119285PTCH1c.979G>C (p.Ala327Pro)
c.1174G>C (p.Ala392Pro)
c.724G>C (p.Ala242Pro)
c.1177G>C (p.Ala393Pro)
c.328G>C (p.Ala110Pro)
c.814G>C (p.Ala272Pro)
c.337G>C (p.Ala113Pro)
n.1365G>C
n.2082G>C
9g.95479038C>TCA254347PTCH1c.979G>A (p.Ala327Thr)
c.1174G>A (p.Ala392Thr)
c.724G>A (p.Ala242Thr)
c.1177G>A (p.Ala393Thr)
c.328G>A (p.Ala110Thr)
c.814G>A (p.Ala272Thr)
c.337G>A (p.Ala113Thr)
n.1365G>A
n.2082G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95479039C>ACA466122256PTCH1c.978G>T (p.Ala326=)
c.1173G>T (p.Ala391=)
c.723G>T (p.Ala241=)
c.1176G>T (p.Ala392=)
c.327G>T (p.Ala109=)
c.813G>T (p.Ala271=)
c.336G>T (p.Ala112=)
n.1364G>T
n.2081G>T
 COSMIC COSMIC COSMIC COSMIC
9g.95479039C=CA1865649474PTCH1c.978G= (p.Ala326=)
c.1173G= (p.Ala391=)
c.723G= (p.Ala241=)
c.1176G= (p.Ala392=)
c.327G= (p.Ala109=)
c.813G= (p.Ala271=)
c.336G= (p.Ala112=)
n.1364G=
n.2081G=
9g.95479039C>GCA466122258PTCH1c.978G>C (p.Ala326=)
c.1173G>C (p.Ala391=)
c.723G>C (p.Ala241=)
c.1176G>C (p.Ala392=)
c.327G>C (p.Ala109=)
c.813G>C (p.Ala271=)
c.336G>C (p.Ala112=)
n.1364G>C
n.2081G>C
 dbSNP
9g.95479039C>TCA10582685PTCH1c.978G>A (p.Ala326=)
c.1173G>A (p.Ala391=)
c.723G>A (p.Ala241=)
c.1176G>A (p.Ala392=)
c.327G>A (p.Ala109=)
c.813G>A (p.Ala271=)
c.336G>A (p.Ala112=)
n.1364G>A
n.2081G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.95479040G>ACA374119286PTCH1c.977C>T (p.Ala326Val)
c.1172C>T (p.Ala391Val)
c.722C>T (p.Ala241Val)
c.1175C>T (p.Ala392Val)
c.326C>T (p.Ala109Val)
c.812C>T (p.Ala271Val)
c.335C>T (p.Ala112Val)
n.1363C>T
n.2080C>T
 dbSNP COSMIC COSMIC COSMIC COSMIC
9g.95479040G>CCA374119287PTCH1c.977C>G (p.Ala326Gly)
c.1172C>G (p.Ala391Gly)
c.722C>G (p.Ala241Gly)
c.1175C>G (p.Ala392Gly)
c.326C>G (p.Ala109Gly)
c.812C>G (p.Ala271Gly)
c.335C>G (p.Ala112Gly)
n.1363C>G
n.2080C>G
9g.95479040G=CA1865649480PTCH1c.977C= (p.Ala326=)
c.1172C= (p.Ala391=)
c.722C= (p.Ala241=)
c.1175C= (p.Ala392=)
c.326C= (p.Ala109=)
c.812C= (p.Ala271=)
c.335C= (p.Ala112=)
n.1363C=
n.2080C=
9g.95479040G>TCA374119288PTCH1c.977C>A (p.Ala326Glu)
c.1172C>A (p.Ala391Glu)
c.722C>A (p.Ala241Glu)
c.1175C>A (p.Ala392Glu)
c.326C>A (p.Ala109Glu)
c.812C>A (p.Ala271Glu)
c.335C>A (p.Ala112Glu)
n.1363C>A
n.2080C>A
 dbSNP
9g.95479041delCA2785176599PTCH1c.976del (p.Ala326ArgfsTer?)
c.1171del (p.Ala391ArgfsTer?)
c.721del (p.Ala241ArgfsTer?)
c.1174del (p.Ala392ArgfsTer?)
c.325del (p.Ala109ArgfsTer?)
c.811del (p.Ala271ArgfsTer?)
c.334del (p.Ala112ArgfsTer?)
n.1362del
n.2079del
9g.95479041C>ACA374119289PTCH1c.976G>T (p.Ala326Ser)
c.1171G>T (p.Ala391Ser)
c.721G>T (p.Ala241Ser)
c.1174G>T (p.Ala392Ser)
c.325G>T (p.Ala109Ser)
c.811G>T (p.Ala271Ser)
c.334G>T (p.Ala112Ser)
n.1362G>T
n.2079G>T
9g.95479041C>GCA374119290PTCH1c.976G>C (p.Ala326Pro)
c.1171G>C (p.Ala391Pro)
c.721G>C (p.Ala241Pro)
c.1174G>C (p.Ala392Pro)
c.325G>C (p.Ala109Pro)
c.811G>C (p.Ala271Pro)
c.334G>C (p.Ala112Pro)
n.1362G>C
n.2079G>C
9g.95479041C>TCA374119291PTCH1c.976G>A (p.Ala326Thr)
c.1171G>A (p.Ala391Thr)
c.721G>A (p.Ala241Thr)
c.1174G>A (p.Ala392Thr)
c.325G>A (p.Ala109Thr)
c.811G>A (p.Ala271Thr)
c.334G>A (p.Ala112Thr)
n.1362G>A
n.2079G>A
9g.95479042T>ACA374119292PTCH1c.975A>T (p.Lys325Asn)
c.1170A>T (p.Lys390Asn)
c.720A>T (p.Lys240Asn)
c.1173A>T (p.Lys391Asn)
c.324A>T (p.Lys108Asn)
c.810A>T (p.Lys270Asn)
c.333A>T (p.Lys111Asn)
n.1361A>T
n.2078A>T
9g.95479042T>CCA466122271PTCH1c.975A>G (p.Lys325=)
c.1170A>G (p.Lys390=)
c.720A>G (p.Lys240=)
c.1173A>G (p.Lys391=)
c.324A>G (p.Lys108=)
c.810A>G (p.Lys270=)
c.333A>G (p.Lys111=)
n.1361A>G
n.2078A>G
 ClinVar dbSNP
9g.95479042T>GCA374119293PTCH1c.975A>C (p.Lys325Asn)
c.1170A>C (p.Lys390Asn)
c.720A>C (p.Lys240Asn)
c.1173A>C (p.Lys391Asn)
c.324A>C (p.Lys108Asn)
c.810A>C (p.Lys270Asn)
c.333A>C (p.Lys111Asn)
n.1361A>C
n.2078A>C
9g.95479043T>ACA374119296PTCH1c.974A>T (p.Lys325Ile)
c.1169A>T (p.Lys390Ile)
c.719A>T (p.Lys240Ile)
c.1172A>T (p.Lys391Ile)
c.323A>T (p.Lys108Ile)
c.809A>T (p.Lys270Ile)
c.332A>T (p.Lys111Ile)
n.1360A>T
n.2077A>T
9g.95479043T>CCA374119295PTCH1c.974A>G (p.Lys325Arg)
c.1169A>G (p.Lys390Arg)
c.719A>G (p.Lys240Arg)
c.1172A>G (p.Lys391Arg)
c.323A>G (p.Lys108Arg)
c.809A>G (p.Lys270Arg)
c.332A>G (p.Lys111Arg)
n.1360A>G
n.2077A>G
 ClinVar dbSNP
9g.95479043T>GCA374119294PTCH1c.974A>C (p.Lys325Thr)
c.1169A>C (p.Lys390Thr)
c.719A>C (p.Lys240Thr)
c.1172A>C (p.Lys391Thr)
c.323A>C (p.Lys108Thr)
c.809A>C (p.Lys270Thr)
c.332A>C (p.Lys111Thr)
n.1360A>C
n.2077A>C
9g.95479043T=CA1865649488PTCH1c.974A= (p.Lys325=)
c.1169A= (p.Lys390=)
c.719A= (p.Lys240=)
c.1172A= (p.Lys391=)
c.323A= (p.Lys108=)
c.809A= (p.Lys270=)
c.332A= (p.Lys111=)
n.1360A=
n.2077A=
9g.95479044T>ACA374119297PTCH1c.973A>T (p.Lys325Ter)
c.1168A>T (p.Lys390Ter)
c.718A>T (p.Lys240Ter)
c.1171A>T (p.Lys391Ter)
c.322A>T (p.Lys108Ter)
c.808A>T (p.Lys270Ter)
c.331A>T (p.Lys111Ter)
n.1359A>T
n.2076A>T
9g.95479044T>CCA374119298PTCH1c.973A>G (p.Lys325Glu)
c.1168A>G (p.Lys390Glu)
c.718A>G (p.Lys240Glu)
c.1171A>G (p.Lys391Glu)
c.322A>G (p.Lys108Glu)
c.808A>G (p.Lys270Glu)
c.331A>G (p.Lys111Glu)
n.1359A>G
n.2076A>G
9g.95479044T>GCA374119299PTCH1c.973A>C (p.Lys325Gln)
c.1168A>C (p.Lys390Gln)
c.718A>C (p.Lys240Gln)
c.1171A>C (p.Lys391Gln)
c.322A>C (p.Lys108Gln)
c.808A>C (p.Lys270Gln)
c.331A>C (p.Lys111Gln)
n.1359A>C
n.2076A>C
9g.95479045G>ACA466122288PTCH1c.972C>T (p.Asp324=)
c.1167C>T (p.Asp389=)
c.717C>T (p.Asp239=)
c.1170C>T (p.Asp390=)
c.321C>T (p.Asp107=)
c.807C>T (p.Asp269=)
c.330C>T (p.Asp110=)
n.1358C>T
n.2075C>T
 gnomAD v4
9g.95479045G>CCA374119300PTCH1c.972C>G (p.Asp324Glu)
c.1167C>G (p.Asp389Glu)
c.717C>G (p.Asp239Glu)
c.1170C>G (p.Asp390Glu)
c.321C>G (p.Asp107Glu)
c.807C>G (p.Asp269Glu)
c.330C>G (p.Asp110Glu)
n.1358C>G
n.2075C>G
9g.95479045G>TCA374119301PTCH1c.972C>A (p.Asp324Glu)
c.1167C>A (p.Asp389Glu)
c.717C>A (p.Asp239Glu)
c.1170C>A (p.Asp390Glu)
c.321C>A (p.Asp107Glu)
c.807C>A (p.Asp269Glu)
c.330C>A (p.Asp110Glu)
n.1358C>A
n.2075C>A
9g.95479046T>ACA374119302PTCH1c.971A>T (p.Asp324Val)
c.1166A>T (p.Asp389Val)
c.716A>T (p.Asp239Val)
c.1169A>T (p.Asp390Val)
c.320A>T (p.Asp107Val)
c.806A>T (p.Asp269Val)
c.329A>T (p.Asp110Val)
n.1357A>T
n.2074A>T
9g.95479046T>CCA374119303PTCH1c.971A>G (p.Asp324Gly)
c.1166A>G (p.Asp389Gly)
c.716A>G (p.Asp239Gly)
c.1169A>G (p.Asp390Gly)
c.320A>G (p.Asp107Gly)
c.806A>G (p.Asp269Gly)
c.329A>G (p.Asp110Gly)
n.1357A>G
n.2074A>G
9g.95479046T>GCA374119304PTCH1c.971A>C (p.Asp324Ala)
c.1166A>C (p.Asp389Ala)
c.716A>C (p.Asp239Ala)
c.1169A>C (p.Asp390Ala)
c.320A>C (p.Asp107Ala)
c.806A>C (p.Asp269Ala)
c.329A>C (p.Asp110Ala)
n.1357A>C
n.2074A>C
9g.95479047C>ACA374119305PTCH1c.970G>T (p.Asp324Tyr)
c.1165G>T (p.Asp389Tyr)
c.715G>T (p.Asp239Tyr)
c.1168G>T (p.Asp390Tyr)
c.319G>T (p.Asp107Tyr)
c.805G>T (p.Asp269Tyr)
c.328G>T (p.Asp110Tyr)
n.1356G>T
n.2073G>T
 ClinVar dbSNP
9g.95479047C=CA1865649501PTCH1c.970G= (p.Asp324=)
c.1165G= (p.Asp389=)
c.715G= (p.Asp239=)
c.1168G= (p.Asp390=)
c.319G= (p.Asp107=)
c.805G= (p.Asp269=)
c.328G= (p.Asp110=)
n.1356G=
n.2073G=
9g.95479047C>GCA374119306PTCH1c.970G>C (p.Asp324His)
c.1165G>C (p.Asp389His)
c.715G>C (p.Asp239His)
c.1168G>C (p.Asp390His)
c.319G>C (p.Asp107His)
c.805G>C (p.Asp269His)
c.328G>C (p.Asp110His)
n.1356G>C
n.2073G>C
 ClinVar dbSNP
9g.95479047C>TCA374119307PTCH1c.970G>A (p.Asp324Asn)
c.1165G>A (p.Asp389Asn)
c.715G>A (p.Asp239Asn)
c.1168G>A (p.Asp390Asn)
c.319G>A (p.Asp107Asn)
c.805G>A (p.Asp269Asn)
c.328G>A (p.Asp110Asn)
n.1356G>A
n.2073G>A
9g.95479047_95479048delinsATCA645567510PTCH1c.969_970delinsAT (p.Asp324Tyr)
c.1164_1165delinsAT (p.Asp389Tyr)
c.714_715delinsAT (p.Asp239Tyr)
c.1167_1168delinsAT (p.Asp390Tyr)
c.318_319delinsAT (p.Asp107Tyr)
c.804_805delinsAT (p.Asp269Tyr)
c.327_328delinsAT (p.Asp110Tyr)
n.1355_1356delinsAT
n.2072_2073delinsAT
 COSMIC
9g.95479048C>ACA374119308PTCH1c.969G>T (p.Glu323Asp)
c.1164G>T (p.Glu388Asp)
c.714G>T (p.Glu238Asp)
c.1167G>T (p.Glu389Asp)
c.318G>T (p.Glu106Asp)
c.804G>T (p.Glu268Asp)
c.327G>T (p.Glu109Asp)
n.1355G>T
n.2072G>T
9g.95479048C>GCA374119309PTCH1c.969G>C (p.Glu323Asp)
c.1164G>C (p.Glu388Asp)
c.714G>C (p.Glu238Asp)
c.1167G>C (p.Glu389Asp)
c.318G>C (p.Glu106Asp)
c.804G>C (p.Glu268Asp)
c.327G>C (p.Glu109Asp)
n.1355G>C
n.2072G>C
9g.95479048C>TCA466122301PTCH1c.969G>A (p.Glu323=)
c.1164G>A (p.Glu388=)
c.714G>A (p.Glu238=)
c.1167G>A (p.Glu389=)
c.318G>A (p.Glu106=)
c.804G>A (p.Glu268=)
c.327G>A (p.Glu109=)
n.1355G>A
n.2072G>A
 ClinVar dbSNP
9g.95479049T>ACA374119311PTCH1c.968A>T (p.Glu323Val)
c.1163A>T (p.Glu388Val)
c.713A>T (p.Glu238Val)
c.1166A>T (p.Glu389Val)
c.317A>T (p.Glu106Val)
c.803A>T (p.Glu268Val)
c.326A>T (p.Glu109Val)
n.1354A>T
n.2071A>T
9g.95479049T>CCA374119312PTCH1c.968A>G (p.Glu323Gly)
c.1163A>G (p.Glu388Gly)
c.713A>G (p.Glu238Gly)
c.1166A>G (p.Glu389Gly)
c.317A>G (p.Glu106Gly)
c.803A>G (p.Glu268Gly)
c.326A>G (p.Glu109Gly)
n.1354A>G
n.2071A>G
9g.95479049T>GCA374119310PTCH1c.968A>C (p.Glu323Ala)
c.1163A>C (p.Glu388Ala)
c.713A>C (p.Glu238Ala)
c.1166A>C (p.Glu389Ala)
c.317A>C (p.Glu106Ala)
c.803A>C (p.Glu268Ala)
c.326A>C (p.Glu109Ala)
n.1354A>C
n.2071A>C
9g.95479050C>ACA374119313PTCH1c.967G>T (p.Glu323Ter)
c.1162G>T (p.Glu388Ter)
c.712G>T (p.Glu238Ter)
c.1165G>T (p.Glu389Ter)
c.316G>T (p.Glu106Ter)
c.802G>T (p.Glu268Ter)
c.325G>T (p.Glu109Ter)
n.1353G>T
n.2070G>T
9g.95479050C=CA1865649514PTCH1c.967G= (p.Glu323=)
c.1162G= (p.Glu388=)
c.712G= (p.Glu238=)
c.1165G= (p.Glu389=)
c.316G= (p.Glu106=)
c.802G= (p.Glu268=)
c.325G= (p.Glu109=)
n.1353G=
n.2070G=
9g.95479050C>GCA374119314PTCH1c.967G>C (p.Glu323Gln)
c.1162G>C (p.Glu388Gln)
c.712G>C (p.Glu238Gln)
c.1165G>C (p.Glu389Gln)
c.316G>C (p.Glu106Gln)
c.802G>C (p.Glu268Gln)
c.325G>C (p.Glu109Gln)
n.1353G>C
n.2070G>C
9g.95479050C>TCA374119315PTCH1c.967G>A (p.Glu323Lys)
c.1162G>A (p.Glu388Lys)
c.712G>A (p.Glu238Lys)
c.1165G>A (p.Glu389Lys)
c.316G>A (p.Glu106Lys)
c.802G>A (p.Glu268Lys)
c.325G>A (p.Glu109Lys)
n.1353G>A
n.2070G>A
 ClinVar dbSNP gnomAD v4
9g.95479051G>ACA5138752PTCH1c.966C>T (p.Asn322=)
c.1161C>T (p.Asn387=)
c.711C>T (p.Asn237=)
c.1164C>T (p.Asn388=)
c.315C>T (p.Asn105=)
c.801C>T (p.Asn267=)
c.324C>T (p.Asn108=)
n.1352C>T
n.2069C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95479051G>CCA374119316PTCH1c.966C>G (p.Asn322Lys)
c.1161C>G (p.Asn387Lys)
c.711C>G (p.Asn237Lys)
c.1164C>G (p.Asn388Lys)
c.315C>G (p.Asn105Lys)
c.801C>G (p.Asn267Lys)
c.324C>G (p.Asn108Lys)
n.1352C>G
n.2069C>G
9g.95479051G=CA1865649518PTCH1c.966C= (p.Asn322=)
c.1161C= (p.Asn387=)
c.711C= (p.Asn237=)
c.1164C= (p.Asn388=)
c.315C= (p.Asn105=)
c.801C= (p.Asn267=)
c.324C= (p.Asn108=)
n.1352C=
n.2069C=
9g.95479051G>TCA374119317PTCH1c.966C>A (p.Asn322Lys)
c.1161C>A (p.Asn387Lys)
c.711C>A (p.Asn237Lys)
c.1164C>A (p.Asn388Lys)
c.315C>A (p.Asn105Lys)
c.801C>A (p.Asn267Lys)
c.324C>A (p.Asn108Lys)
n.1352C>A
n.2069C>A
 ClinVar dbSNP
9g.95479051dupCA645567511PTCH1c.966dup (p.Glu323ArgfsTer?)
c.1161dup (p.Glu388ArgfsTer?)
c.711dup (p.Glu238ArgfsTer?)
c.1164dup (p.Glu389ArgfsTer?)
c.315dup (p.Glu106ArgfsTer?)
c.801dup (p.Glu268ArgfsTer?)
c.324dup (p.Glu109ArgfsTer?)
n.1352dup
n.2069dup
 COSMIC
9g.95479051_95479052insCCA466122316PTCH1c.965_966insG (p.Asn322LysfsTer?)
c.1160_1161insG (p.Asn387LysfsTer?)
c.710_711insG (p.Asn237LysfsTer?)
c.1163_1164insG (p.Asn388LysfsTer?)
c.314_315insG (p.Asn105LysfsTer?)
c.800_801insG (p.Asn267LysfsTer?)
c.323_324insG (p.Asn108LysfsTer?)
n.1351_1352insG
n.2068_2069insG
9g.95479052T>ACA374119320PTCH1c.965A>T (p.Asn322Ile)
c.1160A>T (p.Asn387Ile)
c.710A>T (p.Asn237Ile)
c.1163A>T (p.Asn388Ile)
c.314A>T (p.Asn105Ile)
c.800A>T (p.Asn267Ile)
c.323A>T (p.Asn108Ile)
n.1351A>T
n.2068A>T
9g.95479052T>CCA374119319PTCH1c.965A>G (p.Asn322Ser)
c.1160A>G (p.Asn387Ser)
c.710A>G (p.Asn237Ser)
c.1163A>G (p.Asn388Ser)
c.314A>G (p.Asn105Ser)
c.800A>G (p.Asn267Ser)
c.323A>G (p.Asn108Ser)
n.1351A>G
n.2068A>G
9g.95479052T>GCA374119318PTCH1c.965A>C (p.Asn322Thr)
c.1160A>C (p.Asn387Thr)
c.710A>C (p.Asn237Thr)
c.1163A>C (p.Asn388Thr)
c.314A>C (p.Asn105Thr)
c.800A>C (p.Asn267Thr)
c.323A>C (p.Asn108Thr)
n.1351A>C
n.2068A>C
9g.95479053T>ACA374119321PTCH1c.964A>T (p.Asn322Tyr)
c.1159A>T (p.Asn387Tyr)
c.709A>T (p.Asn237Tyr)
c.1162A>T (p.Asn388Tyr)
c.313A>T (p.Asn105Tyr)
c.799A>T (p.Asn267Tyr)
c.322A>T (p.Asn108Tyr)
n.1350A>T
n.2067A>T
9g.95479053T>CCA374119322PTCH1c.964A>G (p.Asn322Asp)
c.1159A>G (p.Asn387Asp)
c.709A>G (p.Asn237Asp)
c.1162A>G (p.Asn388Asp)
c.313A>G (p.Asn105Asp)
c.799A>G (p.Asn267Asp)
c.322A>G (p.Asn108Asp)
n.1350A>G
n.2067A>G
9g.95479053T>GCA374119323PTCH1c.964A>C (p.Asn322His)
c.1159A>C (p.Asn387His)
c.709A>C (p.Asn237His)
c.1162A>C (p.Asn388His)
c.313A>C (p.Asn105His)
c.799A>C (p.Asn267His)
c.322A>C (p.Asn108His)
n.1350A>C
n.2067A>C
 ClinVar
9g.95479054C>ACA374119324PTCH1c.963G>T (p.Trp321Cys)
c.1158G>T (p.Trp386Cys)
c.708G>T (p.Trp236Cys)
c.1161G>T (p.Trp387Cys)
c.312G>T (p.Trp104Cys)
c.798G>T (p.Trp266Cys)
c.321G>T (p.Trp107Cys)
n.1349G>T
n.2066G>T
9g.95479054C=CA1865649532PTCH1c.963G= (p.Trp321=)
c.1158G= (p.Trp386=)
c.708G= (p.Trp236=)
c.1161G= (p.Trp387=)
c.312G= (p.Trp104=)
c.798G= (p.Trp266=)
c.321G= (p.Trp107=)
n.1349G=
n.2066G=
9g.95479054C>GCA374119325PTCH1c.963G>C (p.Trp321Cys)
c.1158G>C (p.Trp386Cys)
c.708G>C (p.Trp236Cys)
c.1161G>C (p.Trp387Cys)
c.312G>C (p.Trp104Cys)
c.798G>C (p.Trp266Cys)
c.321G>C (p.Trp107Cys)
n.1349G>C
n.2066G>C
 ClinVar
9g.95479054C>TCA374119326PTCH1c.963G>A (p.Trp321Ter)
c.1158G>A (p.Trp386Ter)
c.708G>A (p.Trp236Ter)
c.1161G>A (p.Trp387Ter)
c.312G>A (p.Trp104Ter)
c.798G>A (p.Trp266Ter)
c.321G>A (p.Trp107Ter)
n.1349G>A
n.2066G>A
 ClinVar dbSNP COSMIC
9g.95479055delCA2785176600PTCH1c.963del (p.Trp321Ter)
c.1158del (p.Trp386Ter)
c.708del (p.Trp236Ter)
c.1161del (p.Trp387Ter)
c.312del (p.Trp104Ter)
c.798del (p.Trp266Ter)
c.321del (p.Trp107Ter)
n.1349del
n.2066del
9g.95479055C>ACA374119327PTCH1c.962G>T (p.Trp321Leu)
c.1157G>T (p.Trp386Leu)
c.707G>T (p.Trp236Leu)
c.1160G>T (p.Trp387Leu)
c.311G>T (p.Trp104Leu)
c.797G>T (p.Trp266Leu)
c.320G>T (p.Trp107Leu)
n.1348G>T
n.2065G>T
9g.95479055C>GCA374119329PTCH1c.962G>C (p.Trp321Ser)
c.1157G>C (p.Trp386Ser)
c.707G>C (p.Trp236Ser)
c.1160G>C (p.Trp387Ser)
c.311G>C (p.Trp104Ser)
c.797G>C (p.Trp266Ser)
c.320G>C (p.Trp107Ser)
n.1348G>C
n.2065G>C
9g.95479055C>TCA374119328PTCH1c.962G>A (p.Trp321Ter)
c.1157G>A (p.Trp386Ter)
c.707G>A (p.Trp236Ter)
c.1160G>A (p.Trp387Ter)
c.311G>A (p.Trp104Ter)
c.797G>A (p.Trp266Ter)
c.320G>A (p.Trp107Ter)
n.1348G>A
n.2065G>A
 ClinVar dbSNP COSMIC
9g.95479056A>CCA374119330PTCH1c.961T>G (p.Trp321Gly)
c.1156T>G (p.Trp386Gly)
c.706T>G (p.Trp236Gly)
c.1159T>G (p.Trp387Gly)
c.310T>G (p.Trp104Gly)
c.796T>G (p.Trp266Gly)
c.319T>G (p.Trp107Gly)
n.1347T>G
n.2064T>G
9g.95479056A>GCA374119331PTCH1c.961T>C (p.Trp321Arg)
c.1156T>C (p.Trp386Arg)
c.706T>C (p.Trp236Arg)
c.1159T>C (p.Trp387Arg)
c.310T>C (p.Trp104Arg)
c.796T>C (p.Trp266Arg)
c.319T>C (p.Trp107Arg)
n.1347T>C
n.2064T>C
9g.95479056A>TCA374119332PTCH1c.961T>A (p.Trp321Arg)
c.1156T>A (p.Trp386Arg)
c.706T>A (p.Trp236Arg)
c.1159T>A (p.Trp387Arg)
c.310T>A (p.Trp104Arg)
c.796T>A (p.Trp266Arg)
c.319T>A (p.Trp107Arg)
n.1347T>A
n.2064T>A
9g.95479057G>ACA466122375PTCH1c.960C>T (p.Asn320=)
c.1155C>T (p.Asn385=)
c.705C>T (p.Asn235=)
c.1158C>T (p.Asn386=)
c.309C>T (p.Asn103=)
c.795C>T (p.Asn265=)
c.318C>T (p.Asn106=)
n.1346C>T
n.2063C>T
9g.95479057G>CCA374119333PTCH1c.960C>G (p.Asn320Lys)
c.1155C>G (p.Asn385Lys)
c.705C>G (p.Asn235Lys)
c.1158C>G (p.Asn386Lys)
c.309C>G (p.Asn103Lys)
c.795C>G (p.Asn265Lys)
c.318C>G (p.Asn106Lys)
n.1346C>G
n.2063C>G
9g.95479057G>TCA374119334PTCH1c.960C>A (p.Asn320Lys)
c.1155C>A (p.Asn385Lys)
c.705C>A (p.Asn235Lys)
c.1158C>A (p.Asn386Lys)
c.309C>A (p.Asn103Lys)
c.795C>A (p.Asn265Lys)
c.318C>A (p.Asn106Lys)
n.1346C>A
n.2063C>A
9g.95479058T>ACA374119335PTCH1c.959A>T (p.Asn320Ile)
c.1154A>T (p.Asn385Ile)
c.704A>T (p.Asn235Ile)
c.1157A>T (p.Asn386Ile)
c.308A>T (p.Asn103Ile)
c.794A>T (p.Asn265Ile)
c.317A>T (p.Asn106Ile)
n.1345A>T
n.2062A>T
9g.95479058T>CCA374119336PTCH1c.959A>G (p.Asn320Ser)
c.1154A>G (p.Asn385Ser)
c.704A>G (p.Asn235Ser)
c.1157A>G (p.Asn386Ser)
c.308A>G (p.Asn103Ser)
c.794A>G (p.Asn265Ser)
c.317A>G (p.Asn106Ser)
n.1345A>G
n.2062A>G
 ClinVar dbSNP gnomAD v4
9g.95479058T>GCA374119337PTCH1c.959A>C (p.Asn320Thr)
c.1154A>C (p.Asn385Thr)
c.704A>C (p.Asn235Thr)
c.1157A>C (p.Asn386Thr)
c.308A>C (p.Asn103Thr)
c.794A>C (p.Asn265Thr)
c.317A>C (p.Asn106Thr)
n.1345A>C
n.2062A>C
9g.95479058T=CA1865649536PTCH1c.959A= (p.Asn320=)
c.1154A= (p.Asn385=)
c.704A= (p.Asn235=)
c.1157A= (p.Asn386=)
c.308A= (p.Asn103=)
c.794A= (p.Asn265=)
c.317A= (p.Asn106=)
n.1345A=
n.2062A=
9g.95479059T>ACA374119338PTCH1c.958A>T (p.Asn320Tyr)
c.1153A>T (p.Asn385Tyr)
c.703A>T (p.Asn235Tyr)
c.1156A>T (p.Asn386Tyr)
c.307A>T (p.Asn103Tyr)
c.793A>T (p.Asn265Tyr)
c.316A>T (p.Asn106Tyr)
n.1344A>T
n.2061A>T
 dbSNP gnomAD v2 gnomAD v4
9g.95479059T>CCA374119339PTCH1c.958A>G (p.Asn320Asp)
c.1153A>G (p.Asn385Asp)
c.703A>G (p.Asn235Asp)
c.1156A>G (p.Asn386Asp)
c.307A>G (p.Asn103Asp)
c.793A>G (p.Asn265Asp)
c.316A>G (p.Asn106Asp)
n.1344A>G
n.2061A>G
9g.95479059T>GCA374119340PTCH1c.958A>C (p.Asn320His)
c.1153A>C (p.Asn385His)
c.703A>C (p.Asn235His)
c.1156A>C (p.Asn386His)
c.307A>C (p.Asn103His)
c.793A>C (p.Asn265His)
c.316A>C (p.Asn106His)
n.1344A>C
n.2061A>C
9g.95479059T=CA1865649540PTCH1c.958A= (p.Asn320=)
c.1153A= (p.Asn385=)
c.703A= (p.Asn235=)
c.1156A= (p.Asn386=)
c.307A= (p.Asn103=)
c.793A= (p.Asn265=)
c.316A= (p.Asn106=)
n.1344A=
n.2061A=
9g.95479059_95479060delinsTGCA1865649539PTCH1c.957_958delinsCA (p.Ile319=)
c.1152_1153delinsCA (p.Ile384=)
c.702_703delinsCA (p.Ile234=)
c.1155_1156delinsCA (p.Ile385=)
c.306_307delinsCA (p.Ile102=)
c.792_793delinsCA (p.Ile264=)
c.315_316delinsCA (p.Ile105=)
n.1343_1344delinsCA
n.2060_2061delinsCA
9g.95479060delCA16612686PTCH1c.957del (p.Asn320ThrfsTer?)
c.1152del (p.Asn385ThrfsTer?)
c.702del (p.Asn235ThrfsTer?)
c.1155del (p.Asn386ThrfsTer?)
c.306del (p.Asn103ThrfsTer?)
c.792del (p.Asn265ThrfsTer?)
c.315del (p.Asn106ThrfsTer?)
n.1343del
n.2060del
 ClinVar dbSNP
9g.95479060G>ACA466122405PTCH1c.957C>T (p.Ile319=)
c.1152C>T (p.Ile384=)
c.702C>T (p.Ile234=)
c.1155C>T (p.Ile385=)
c.306C>T (p.Ile102=)
c.792C>T (p.Ile264=)
c.315C>T (p.Ile105=)
n.1343C>T
n.2060C>T
9g.95479060G>CCA374119341PTCH1c.957C>G (p.Ile319Met)
c.1152C>G (p.Ile384Met)
c.702C>G (p.Ile234Met)
c.1155C>G (p.Ile385Met)
c.306C>G (p.Ile102Met)
c.792C>G (p.Ile264Met)
c.315C>G (p.Ile105Met)
n.1343C>G
n.2060C>G
9g.95479060G>TCA466122401PTCH1c.957C>A (p.Ile319=)
c.1152C>A (p.Ile384=)
c.702C>A (p.Ile234=)
c.1155C>A (p.Ile385=)
c.306C>A (p.Ile102=)
c.792C>A (p.Ile264=)
c.315C>A (p.Ile105=)
n.1343C>A
n.2060C>A
9g.95479061A>CCA374119342PTCH1c.956T>G (p.Ile319Ser)
c.1151T>G (p.Ile384Ser)
c.701T>G (p.Ile234Ser)
c.1154T>G (p.Ile385Ser)
c.305T>G (p.Ile102Ser)
c.791T>G (p.Ile264Ser)
c.314T>G (p.Ile105Ser)
n.1342T>G
n.2059T>G
9g.95479061A>GCA374119344PTCH1c.956T>C (p.Ile319Thr)
c.1151T>C (p.Ile384Thr)
c.701T>C (p.Ile234Thr)
c.1154T>C (p.Ile385Thr)
c.305T>C (p.Ile102Thr)
c.791T>C (p.Ile264Thr)
c.314T>C (p.Ile105Thr)
n.1342T>C
n.2059T>C
 ClinVar dbSNP
9g.95479061A>TCA374119343PTCH1c.956T>A (p.Ile319Asn)
c.1151T>A (p.Ile384Asn)
c.701T>A (p.Ile234Asn)
c.1154T>A (p.Ile385Asn)
c.305T>A (p.Ile102Asn)
c.791T>A (p.Ile264Asn)
c.314T>A (p.Ile105Asn)
n.1342T>A
n.2059T>A
9g.95479062T>ACA374119345PTCH1c.955A>T (p.Ile319Phe)
c.1150A>T (p.Ile384Phe)
c.700A>T (p.Ile234Phe)
c.1153A>T (p.Ile385Phe)
c.304A>T (p.Ile102Phe)
c.790A>T (p.Ile264Phe)
c.313A>T (p.Ile105Phe)
n.1341A>T
n.2058A>T
9g.95479062T>CCA16605583PTCH1c.955A>G (p.Ile319Val)
c.1150A>G (p.Ile384Val)
c.700A>G (p.Ile234Val)
c.1153A>G (p.Ile385Val)
c.304A>G (p.Ile102Val)
c.790A>G (p.Ile264Val)
c.313A>G (p.Ile105Val)
n.1341A>G
n.2058A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.95479062T>GCA374119346PTCH1c.955A>C (p.Ile319Leu)
c.1150A>C (p.Ile384Leu)
c.700A>C (p.Ile234Leu)
c.1153A>C (p.Ile385Leu)
c.304A>C (p.Ile102Leu)
c.790A>C (p.Ile264Leu)
c.313A>C (p.Ile105Leu)
n.1341A>C
n.2058A>C
9g.95479062T=CA1865649552PTCH1c.955A= (p.Ile319=)
c.1150A= (p.Ile384=)
c.700A= (p.Ile234=)
c.1153A= (p.Ile385=)
c.304A= (p.Ile102=)
c.790A= (p.Ile264=)
c.313A= (p.Ile105=)
n.1341A=
n.2058A=
9g.95479063G>ACA196594935PTCH1c.954C>T (p.His318=)
c.1149C>T (p.His383=)
c.699C>T (p.His233=)
c.1152C>T (p.His384=)
c.303C>T (p.His101=)
c.789C>T (p.His263=)
c.312C>T (p.His104=)
n.1340C>T
n.2057C>T
 ClinVar dbSNP
9g.95479063G>CCA374119347PTCH1c.954C>G (p.His318Gln)
c.1149C>G (p.His383Gln)
c.699C>G (p.His233Gln)
c.1152C>G (p.His384Gln)
c.303C>G (p.His101Gln)
c.789C>G (p.His263Gln)
c.312C>G (p.His104Gln)
n.1340C>G
n.2057C>G
 ClinVar dbSNP
9g.95479063G=CA1865649569PTCH1c.954C= (p.His318=)
c.1149C= (p.His383=)
c.699C= (p.His233=)
c.1152C= (p.His384=)
c.303C= (p.His101=)
c.789C= (p.His263=)
c.312C= (p.His104=)
n.1340C=
n.2057C=
9g.95479063G>TCA374119348PTCH1c.954C>A (p.His318Gln)
c.1149C>A (p.His383Gln)
c.699C>A (p.His233Gln)
c.1152C>A (p.His384Gln)
c.303C>A (p.His101Gln)
c.789C>A (p.His263Gln)
c.312C>A (p.His104Gln)
n.1340C>A
n.2057C>A
 ClinVar dbSNP
9g.95479063_95479064delinsGTCA1865649562PTCH1c.953_954delinsAC (p.His318=)
c.1148_1149delinsAC (p.His383=)
c.698_699delinsAC (p.His233=)
c.1151_1152delinsAC (p.His384=)
c.302_303delinsAC (p.His101=)
c.788_789delinsAC (p.His263=)
c.311_312delinsAC (p.His104=)
n.1339_1340delinsAC
n.2056_2057delinsAC
9g.95479064delCA916081535PTCH1c.953del (p.His318ProfsTer?)
c.1148del (p.His383ProfsTer?)
c.698del (p.His233ProfsTer?)
c.1151del (p.His384ProfsTer?)
c.302del (p.His101ProfsTer?)
c.788del (p.His263ProfsTer?)
c.311del (p.His104ProfsTer?)
n.1339del
n.2056del
 ClinVar dbSNP
9g.95479064T>ACA374119349PTCH1c.953A>T (p.His318Leu)
c.1148A>T (p.His383Leu)
c.698A>T (p.His233Leu)
c.1151A>T (p.His384Leu)
c.302A>T (p.His101Leu)
c.788A>T (p.His263Leu)
c.311A>T (p.His104Leu)
n.1339A>T
n.2056A>T
9g.95479064T>CCA374119350PTCH1c.953A>G (p.His318Arg)
c.1148A>G (p.His383Arg)
c.698A>G (p.His233Arg)
c.1151A>G (p.His384Arg)
c.302A>G (p.His101Arg)
c.788A>G (p.His263Arg)
c.311A>G (p.His104Arg)
n.1339A>G
n.2056A>G
 dbSNP
9g.95479064T>GCA374119351PTCH1c.953A>C (p.His318Pro)
c.1148A>C (p.His383Pro)
c.698A>C (p.His233Pro)
c.1151A>C (p.His384Pro)
c.302A>C (p.His101Pro)
c.788A>C (p.His263Pro)
c.311A>C (p.His104Pro)
n.1339A>C
n.2056A>C
 ClinVar dbSNP
9g.95479064T=CA1865649581PTCH1c.953A= (p.His318=)
c.1148A= (p.His383=)
c.698A= (p.His233=)
c.1151A= (p.His384=)
c.302A= (p.His101=)
c.788A= (p.His263=)
c.311A= (p.His104=)
n.1339A=
n.2056A=
9g.95479065G>ACA374119352PTCH1c.952C>T (p.His318Tyr)
c.1147C>T (p.His383Tyr)
c.697C>T (p.His233Tyr)
c.1150C>T (p.His384Tyr)
c.301C>T (p.His101Tyr)
c.787C>T (p.His263Tyr)
c.310C>T (p.His104Tyr)
n.1338C>T
n.2055C>T
 ClinVar
9g.95479065G>CCA374119353PTCH1c.952C>G (p.His318Asp)
c.1147C>G (p.His383Asp)
c.697C>G (p.His233Asp)
c.1150C>G (p.His384Asp)
c.301C>G (p.His101Asp)
c.787C>G (p.His263Asp)
c.310C>G (p.His104Asp)
n.1338C>G
n.2055C>G
 ClinVar dbSNP
9g.95479065G>TCA374119354PTCH1c.952C>A (p.His318Asn)
c.1147C>A (p.His383Asn)
c.697C>A (p.His233Asn)
c.1150C>A (p.His384Asn)
c.301C>A (p.His101Asn)
c.787C>A (p.His263Asn)
c.310C>A (p.His104Asn)
n.1338C>A
n.2055C>A
9g.95479066T>ACA466122459PTCH1c.951A>T (p.Ser317=)
c.1146A>T (p.Ser382=)
c.696A>T (p.Ser232=)
c.1149A>T (p.Ser383=)
c.300A>T (p.Ser100=)
c.786A>T (p.Ser262=)
c.309A>T (p.Ser103=)
n.1337A>T
n.2054A>T
9g.95479066T>CCA466122467PTCH1c.951A>G (p.Ser317=)
c.1146A>G (p.Ser382=)
c.696A>G (p.Ser232=)
c.1149A>G (p.Ser383=)
c.300A>G (p.Ser100=)
c.786A>G (p.Ser262=)
c.309A>G (p.Ser103=)
n.1337A>G
n.2054A>G
 COSMIC COSMIC COSMIC COSMIC
9g.95479066T>GCA466122462PTCH1c.951A>C (p.Ser317=)
c.1146A>C (p.Ser382=)
c.696A>C (p.Ser232=)
c.1149A>C (p.Ser383=)
c.300A>C (p.Ser100=)
c.786A>C (p.Ser262=)
c.309A>C (p.Ser103=)
n.1337A>C
n.2054A>C
 ClinVar
9g.95479067G>ACA374119357PTCH1c.950C>T (p.Ser317Leu)
c.1145C>T (p.Ser382Leu)
c.695C>T (p.Ser232Leu)
c.1148C>T (p.Ser383Leu)
c.299C>T (p.Ser100Leu)
c.785C>T (p.Ser262Leu)
c.308C>T (p.Ser103Leu)
n.1336C>T
n.2053C>T
 COSMIC COSMIC COSMIC COSMIC
9g.95479067G>CCA374119356PTCH1c.950C>G (p.Ser317Ter)
c.1145C>G (p.Ser382Ter)
c.695C>G (p.Ser232Ter)
c.1148C>G (p.Ser383Ter)
c.299C>G (p.Ser100Ter)
c.785C>G (p.Ser262Ter)
c.308C>G (p.Ser103Ter)
n.1336C>G
n.2053C>G
9g.95479067G>TCA374119355PTCH1c.950C>A (p.Ser317Ter)
c.1145C>A (p.Ser382Ter)
c.695C>A (p.Ser232Ter)
c.1148C>A (p.Ser383Ter)
c.299C>A (p.Ser100Ter)
c.785C>A (p.Ser262Ter)
c.308C>A (p.Ser103Ter)
n.1336C>A
n.2053C>A
 ClinVar
9g.95479068A>CCA374119358PTCH1c.949T>G (p.Ser317Ala)
c.1144T>G (p.Ser382Ala)
c.694T>G (p.Ser232Ala)
c.1147T>G (p.Ser383Ala)
c.298T>G (p.Ser100Ala)
c.784T>G (p.Ser262Ala)
c.307T>G (p.Ser103Ala)
n.1335T>G
n.2052T>G
9g.95479068A>GCA374119359PTCH1c.949T>C (p.Ser317Pro)
c.1144T>C (p.Ser382Pro)
c.694T>C (p.Ser232Pro)
c.1147T>C (p.Ser383Pro)
c.298T>C (p.Ser100Pro)
c.784T>C (p.Ser262Pro)
c.307T>C (p.Ser103Pro)
n.1335T>C
n.2052T>C
9g.95479068A>TCA374119360PTCH1c.949T>A (p.Ser317Thr)
c.1144T>A (p.Ser382Thr)
c.694T>A (p.Ser232Thr)
c.1147T>A (p.Ser383Thr)
c.298T>A (p.Ser100Thr)
c.784T>A (p.Ser262Thr)
c.307T>A (p.Ser103Thr)
n.1335T>A
n.2052T>A
9g.95479069G>ACA5138753PTCH1c.948C>T (p.Val316=)
c.1143C>T (p.Val381=)
c.693C>T (p.Val231=)
c.1146C>T (p.Val382=)
c.297C>T (p.Val99=)
c.783C>T (p.Val261=)
c.306C>T (p.Val102=)
n.1334C>T
n.2051C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95479069G>CCA466122497PTCH1c.948C>G (p.Val316=)
c.1143C>G (p.Val381=)
c.693C>G (p.Val231=)
c.1146C>G (p.Val382=)
c.297C>G (p.Val99=)
c.783C>G (p.Val261=)
c.306C>G (p.Val102=)
n.1334C>G
n.2051C>G
 ClinVar gnomAD v4
9g.95479069G=CA1865649586PTCH1c.948C= (p.Val316=)
c.1143C= (p.Val381=)
c.693C= (p.Val231=)
c.1146C= (p.Val382=)
c.297C= (p.Val99=)
c.783C= (p.Val261=)
c.306C= (p.Val102=)
n.1334C=
n.2051C=
9g.95479069G>TCA466122500PTCH1c.948C>A (p.Val316=)
c.1143C>A (p.Val381=)
c.693C>A (p.Val231=)
c.1146C>A (p.Val382=)
c.297C>A (p.Val99=)
c.783C>A (p.Val261=)
c.306C>A (p.Val102=)
n.1334C>A
n.2051C>A
9g.95479070A>CCA374119361PTCH1c.947T>G (p.Val316Gly)
c.1142T>G (p.Val381Gly)
c.692T>G (p.Val231Gly)
c.1145T>G (p.Val382Gly)
c.296T>G (p.Val99Gly)
c.782T>G (p.Val261Gly)
c.305T>G (p.Val102Gly)
n.1333T>G
n.2050T>G
9g.95479070A>GCA374119362PTCH1c.947T>C (p.Val316Ala)
c.1142T>C (p.Val381Ala)
c.692T>C (p.Val231Ala)
c.1145T>C (p.Val382Ala)
c.296T>C (p.Val99Ala)
c.782T>C (p.Val261Ala)
c.305T>C (p.Val102Ala)
n.1333T>C
n.2050T>C
9g.95479070A>TCA374119363PTCH1c.947T>A (p.Val316Asp)
c.1142T>A (p.Val381Asp)
c.692T>A (p.Val231Asp)
c.1145T>A (p.Val382Asp)
c.296T>A (p.Val99Asp)
c.782T>A (p.Val261Asp)
c.305T>A (p.Val102Asp)
n.1333T>A
n.2050T>A
9g.95479071C>ACA374119364PTCH1c.946G>T (p.Val316Phe)
c.1141G>T (p.Val381Phe)
c.691G>T (p.Val231Phe)
c.1144G>T (p.Val382Phe)
c.295G>T (p.Val99Phe)
c.781G>T (p.Val261Phe)
c.304G>T (p.Val102Phe)
n.1332G>T
n.2049G>T
9g.95479071C=CA1865649593PTCH1c.946G= (p.Val316=)
c.1141G= (p.Val381=)
c.691G= (p.Val231=)
c.1144G= (p.Val382=)
c.295G= (p.Val99=)
c.781G= (p.Val261=)
c.304G= (p.Val102=)
n.1332G=
n.2049G=
9g.95479071C>GCA374119365PTCH1c.946G>C (p.Val316Leu)
c.1141G>C (p.Val381Leu)
c.691G>C (p.Val231Leu)
c.1144G>C (p.Val382Leu)
c.295G>C (p.Val99Leu)
c.781G>C (p.Val261Leu)
c.304G>C (p.Val102Leu)
n.1332G>C
n.2049G>C
9g.95479071C>TCA374119366PTCH1c.946G>A (p.Val316Ile)
c.1141G>A (p.Val381Ile)
c.691G>A (p.Val231Ile)
c.1144G>A (p.Val382Ile)
c.295G>A (p.Val99Ile)
c.781G>A (p.Val261Ile)
c.304G>A (p.Val102Ile)
n.1332G>A
n.2049G>A
 ClinVar dbSNP gnomAD v4
9g.95479071dupCA2695210933PTCH1c.946dup (p.Val316GlyfsTer?)
c.1141dup (p.Val381GlyfsTer?)
c.691dup (p.Val231GlyfsTer?)
c.1144dup (p.Val382GlyfsTer?)
c.295dup (p.Val99GlyfsTer?)
c.781dup (p.Val261GlyfsTer?)
c.304dup (p.Val102GlyfsTer?)
n.1332dup
n.2049dup
9g.95479072A>CCA374119367PTCH1c.945T>G (p.Tyr315Ter)
c.1140T>G (p.Tyr380Ter)
c.690T>G (p.Tyr230Ter)
c.1143T>G (p.Tyr381Ter)
c.294T>G (p.Tyr98Ter)
c.780T>G (p.Tyr260Ter)
c.303T>G (p.Tyr101Ter)
n.1331T>G
n.2048T>G
9g.95479072A>GCA466122523PTCH1c.945T>C (p.Tyr315=)
c.1140T>C (p.Tyr380=)
c.690T>C (p.Tyr230=)
c.1143T>C (p.Tyr381=)
c.294T>C (p.Tyr98=)
c.780T>C (p.Tyr260=)
c.303T>C (p.Tyr101=)
n.1331T>C
n.2048T>C
 ClinVar gnomAD v4
9g.95479072A>TCA374119368PTCH1c.945T>A (p.Tyr315Ter)
c.1140T>A (p.Tyr380Ter)
c.690T>A (p.Tyr230Ter)
c.1143T>A (p.Tyr381Ter)
c.294T>A (p.Tyr98Ter)
c.780T>A (p.Tyr260Ter)
c.303T>A (p.Tyr101Ter)
n.1331T>A
n.2048T>A
9g.95479073_95479089delCA645567512PTCH1c.929_945del (p.Phe310CysfsTer?)
c.1124_1140del (p.Phe375CysfsTer?)
c.674_690del (p.Phe225CysfsTer?)
c.1127_1143del (p.Phe376CysfsTer?)
c.278_294del (p.Phe93CysfsTer?)
c.764_780del (p.Phe255CysfsTer?)
c.287_303del (p.Phe96CysfsTer?)
n.1315_1331del
n.2032_2048del
 COSMIC
9g.95479073T>ACA374119369PTCH1c.944A>T (p.Tyr315Phe)
c.1139A>T (p.Tyr380Phe)
c.689A>T (p.Tyr230Phe)
c.1142A>T (p.Tyr381Phe)
c.293A>T (p.Tyr98Phe)
c.779A>T (p.Tyr260Phe)
c.302A>T (p.Tyr101Phe)
n.1330A>T
n.2047A>T
9g.95479073T>CCA374119371PTCH1c.944A>G (p.Tyr315Cys)
c.1139A>G (p.Tyr380Cys)
c.689A>G (p.Tyr230Cys)
c.1142A>G (p.Tyr381Cys)
c.293A>G (p.Tyr98Cys)
c.779A>G (p.Tyr260Cys)
c.302A>G (p.Tyr101Cys)
n.1330A>G
n.2047A>G
 gnomAD v4
9g.95479073T>GCA374119370PTCH1c.944A>C (p.Tyr315Ser)
c.1139A>C (p.Tyr380Ser)
c.689A>C (p.Tyr230Ser)
c.1142A>C (p.Tyr381Ser)
c.293A>C (p.Tyr98Ser)
c.779A>C (p.Tyr260Ser)
c.302A>C (p.Tyr101Ser)
n.1330A>C
n.2047A>C
9g.95479074A>CCA374119372PTCH1c.943T>G (p.Tyr315Asp)
c.1138T>G (p.Tyr380Asp)
c.688T>G (p.Tyr230Asp)
c.1141T>G (p.Tyr381Asp)
c.292T>G (p.Tyr98Asp)
c.778T>G (p.Tyr260Asp)
c.301T>G (p.Tyr101Asp)
n.1329T>G
n.2046T>G
9g.95479074A>GCA374119374PTCH1c.943T>C (p.Tyr315His)
c.1138T>C (p.Tyr380His)
c.688T>C (p.Tyr230His)
c.1141T>C (p.Tyr381His)
c.292T>C (p.Tyr98His)
c.778T>C (p.Tyr260His)
c.301T>C (p.Tyr101His)
n.1329T>C
n.2046T>C
9g.95479074A>TCA374119373PTCH1c.943T>A (p.Tyr315Asn)
c.1138T>A (p.Tyr380Asn)
c.688T>A (p.Tyr230Asn)
c.1141T>A (p.Tyr381Asn)
c.292T>A (p.Tyr98Asn)
c.778T>A (p.Tyr260Asn)
c.301T>A (p.Tyr101Asn)
n.1329T>A
n.2046T>A
9g.95479075C>ACA374119375PTCH1c.942G>T (p.Glu314Asp)
c.1137G>T (p.Glu379Asp)
c.687G>T (p.Glu229Asp)
c.1140G>T (p.Glu380Asp)
c.291G>T (p.Glu97Asp)
c.777G>T (p.Glu259Asp)
c.300G>T (p.Glu100Asp)
n.1328G>T
n.2045G>T
 dbSNP
9g.95479075C=CA1865649600PTCH1c.942G= (p.Glu314=)
c.1137G= (p.Glu379=)
c.687G= (p.Glu229=)
c.1140G= (p.Glu380=)
c.291G= (p.Glu97=)
c.777G= (p.Glu259=)
c.300G= (p.Glu100=)
n.1328G=
n.2045G=
9g.95479075C>GCA374119376PTCH1c.942G>C (p.Glu314Asp)
c.1137G>C (p.Glu379Asp)
c.687G>C (p.Glu229Asp)
c.1140G>C (p.Glu380Asp)
c.291G>C (p.Glu97Asp)
c.777G>C (p.Glu259Asp)
c.300G>C (p.Glu100Asp)
n.1328G>C
n.2045G>C
9g.95479075C>TCA5138754PTCH1c.942G>A (p.Glu314=)
c.1137G>A (p.Glu379=)
c.687G>A (p.Glu229=)
c.1140G>A (p.Glu380=)
c.291G>A (p.Glu97=)
c.777G>A (p.Glu259=)
c.300G>A (p.Glu100=)
n.1328G>A
n.2045G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95479076T>ACA374119377PTCH1c.941A>T (p.Glu314Val)
c.1136A>T (p.Glu379Val)
c.686A>T (p.Glu229Val)
c.1139A>T (p.Glu380Val)
c.290A>T (p.Glu97Val)
c.776A>T (p.Glu259Val)
c.299A>T (p.Glu100Val)
n.1327A>T
n.2044A>T
9g.95479076T>CCA374119378PTCH1c.941A>G (p.Glu314Gly)
c.1136A>G (p.Glu379Gly)
c.686A>G (p.Glu229Gly)
c.1139A>G (p.Glu380Gly)
c.290A>G (p.Glu97Gly)
c.776A>G (p.Glu259Gly)
c.299A>G (p.Glu100Gly)
n.1327A>G
n.2044A>G
9g.95479076T>GCA374119379PTCH1c.941A>C (p.Glu314Ala)
c.1136A>C (p.Glu379Ala)
c.686A>C (p.Glu229Ala)
c.1139A>C (p.Glu380Ala)
c.290A>C (p.Glu97Ala)
c.776A>C (p.Glu259Ala)
c.299A>C (p.Glu100Ala)
n.1327A>C
n.2044A>C
9g.95479077C>ACA374119380PTCH1c.940G>T (p.Glu314Ter)
c.1135G>T (p.Glu379Ter)
c.685G>T (p.Glu229Ter)
c.1138G>T (p.Glu380Ter)
c.289G>T (p.Glu97Ter)
c.775G>T (p.Glu259Ter)
c.298G>T (p.Glu100Ter)
n.1326G>T
n.2043G>T
 ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC
9g.95479077C=CA1865649611PTCH1c.940G= (p.Glu314=)
c.1135G= (p.Glu379=)
c.685G= (p.Glu229=)
c.1138G= (p.Glu380=)
c.289G= (p.Glu97=)
c.775G= (p.Glu259=)
c.298G= (p.Glu100=)
n.1326G=
n.2043G=
9g.95479077C>GCA374119381PTCH1c.940G>C (p.Glu314Gln)
c.1135G>C (p.Glu379Gln)
c.685G>C (p.Glu229Gln)
c.1138G>C (p.Glu380Gln)
c.289G>C (p.Glu97Gln)
c.775G>C (p.Glu259Gln)
c.298G>C (p.Glu100Gln)
n.1326G>C
n.2043G>C
9g.95479077C>TCA16612867PTCH1c.940G>A (p.Glu314Lys)
c.1135G>A (p.Glu379Lys)
c.685G>A (p.Glu229Lys)
c.1138G>A (p.Glu380Lys)
c.289G>A (p.Glu97Lys)
c.775G>A (p.Glu259Lys)
c.298G>A (p.Glu100Lys)
n.1326G>A
n.2043G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.95479078G>ACA332438PTCH1c.939C>T (p.Tyr313=)
c.1134C>T (p.Tyr378=)
c.684C>T (p.Tyr228=)
c.1137C>T (p.Tyr379=)
c.288C>T (p.Tyr96=)
c.774C>T (p.Tyr258=)
c.297C>T (p.Tyr99=)
n.1325C>T
n.2042C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
9g.95479078G>CCA374119382PTCH1c.939C>G (p.Tyr313Ter)
c.1134C>G (p.Tyr378Ter)
c.684C>G (p.Tyr228Ter)
c.1137C>G (p.Tyr379Ter)
c.288C>G (p.Tyr96Ter)
c.774C>G (p.Tyr258Ter)
c.297C>G (p.Tyr99Ter)
n.1325C>G
n.2042C>G
9g.95479078G=CA1865649627PTCH1c.939C= (p.Tyr313=)
c.1134C= (p.Tyr378=)
c.684C= (p.Tyr228=)
c.1137C= (p.Tyr379=)
c.288C= (p.Tyr96=)
c.774C= (p.Tyr258=)
c.297C= (p.Tyr99=)
n.1325C=
n.2042C=
9g.95479078G>TCA374119383PTCH1c.939C>A (p.Tyr313Ter)
c.1134C>A (p.Tyr378Ter)
c.684C>A (p.Tyr228Ter)
c.1137C>A (p.Tyr379Ter)
c.288C>A (p.Tyr96Ter)
c.774C>A (p.Tyr258Ter)
c.297C>A (p.Tyr99Ter)
n.1325C>A
n.2042C>A
9g.95479078_95479079delCA2838032994PTCH1c.938_939del (p.Tyr313Ter)
c.1133_1134del (p.Tyr378Ter)
c.683_684del (p.Tyr228Ter)
c.1136_1137del (p.Tyr379Ter)
c.287_288del (p.Tyr96Ter)
c.773_774del (p.Tyr258Ter)
c.296_297del (p.Tyr99Ter)
n.1324_1325del
n.2041_2042del
9g.95479078_95479079delinsTCCA2695210934PTCH1c.938_939delinsGA (p.Tyr313Ter)
c.1133_1134delinsGA (p.Tyr378Ter)
c.683_684delinsGA (p.Tyr228Ter)
c.1136_1137delinsGA (p.Tyr379Ter)
c.287_288delinsGA (p.Tyr96Ter)
c.773_774delinsGA (p.Tyr258Ter)
c.296_297delinsGA (p.Tyr99Ter)
n.1324_1325delinsGA
n.2041_2042delinsGA
9g.95479079T>ACA374119386PTCH1c.938A>T (p.Tyr313Phe)
c.1133A>T (p.Tyr378Phe)
c.683A>T (p.Tyr228Phe)
c.1136A>T (p.Tyr379Phe)
c.287A>T (p.Tyr96Phe)
c.773A>T (p.Tyr258Phe)
c.296A>T (p.Tyr99Phe)
n.1324A>T
n.2041A>T
9g.95479079T>CCA374119384PTCH1c.938A>G (p.Tyr313Cys)
c.1133A>G (p.Tyr378Cys)
c.683A>G (p.Tyr228Cys)
c.1136A>G (p.Tyr379Cys)
c.287A>G (p.Tyr96Cys)
c.773A>G (p.Tyr258Cys)
c.296A>G (p.Tyr99Cys)
n.1324A>G
n.2041A>G
 ClinVar dbSNP gnomAD v4
9g.95479079T>GCA374119385PTCH1c.938A>C (p.Tyr313Ser)
c.1133A>C (p.Tyr378Ser)
c.683A>C (p.Tyr228Ser)
c.1136A>C (p.Tyr379Ser)
c.287A>C (p.Tyr96Ser)
c.773A>C (p.Tyr258Ser)
c.296A>C (p.Tyr99Ser)
n.1324A>C
n.2041A>C
9g.95479079T=CA1865649643PTCH1c.938A= (p.Tyr313=)
c.1133A= (p.Tyr378=)
c.683A= (p.Tyr228=)
c.1136A= (p.Tyr379=)
c.287A= (p.Tyr96=)
c.773A= (p.Tyr258=)
c.296A= (p.Tyr99=)
n.1324A=
n.2041A=
9g.95479080A=CA1865649658PTCH1c.937T= (p.Tyr313=)
c.1132T= (p.Tyr378=)
c.682T= (p.Tyr228=)
c.1135T= (p.Tyr379=)
c.286T= (p.Tyr96=)
c.772T= (p.Tyr258=)
c.295T= (p.Tyr99=)
n.1323T=
n.2040T=
9g.95479080A>CCA374119387PTCH1c.937T>G (p.Tyr313Asp)
c.1132T>G (p.Tyr378Asp)
c.682T>G (p.Tyr228Asp)
c.1135T>G (p.Tyr379Asp)
c.286T>G (p.Tyr96Asp)
c.772T>G (p.Tyr258Asp)
c.295T>G (p.Tyr99Asp)
n.1323T>G
n.2040T>G
9g.95479080A>GCA374119388PTCH1c.937T>C (p.Tyr313His)
c.1132T>C (p.Tyr378His)
c.682T>C (p.Tyr228His)
c.1135T>C (p.Tyr379His)
c.286T>C (p.Tyr96His)
c.772T>C (p.Tyr258His)
c.295T>C (p.Tyr99His)
n.1323T>C
n.2040T>C
 ClinVar dbSNP
9g.95479080A>TCA374119389PTCH1c.937T>A (p.Tyr313Asn)
c.1132T>A (p.Tyr378Asn)
c.682T>A (p.Tyr228Asn)
c.1135T>A (p.Tyr379Asn)
c.286T>A (p.Tyr96Asn)
c.772T>A (p.Tyr258Asn)
c.295T>A (p.Tyr99Asn)
n.1323T>A
n.2040T>A
9g.95479080dupCA658797234PTCH1c.937dup (p.Tyr313LeufsTer?)
c.1132dup (p.Tyr378LeufsTer?)
c.682dup (p.Tyr228LeufsTer?)
c.1135dup (p.Tyr379LeufsTer?)
c.286dup (p.Tyr96LeufsTer?)
c.772dup (p.Tyr258LeufsTer?)
c.295dup (p.Tyr99LeufsTer?)
n.1323dup
n.2040dup
 ClinVar dbSNP
9g.95479081C>ACA466122597PTCH1c.936G>T (p.Gly312=)
c.1131G>T (p.Gly377=)
c.681G>T (p.Gly227=)
c.1134G>T (p.Gly378=)
c.285G>T (p.Gly95=)
c.771G>T (p.Gly257=)
c.294G>T (p.Gly98=)
n.1322G>T
n.2039G>T
9g.95479081C>GCA466122600PTCH1c.936G>C (p.Gly312=)
c.1131G>C (p.Gly377=)
c.681G>C (p.Gly227=)
c.1134G>C (p.Gly378=)
c.285G>C (p.Gly95=)
c.771G>C (p.Gly257=)
c.294G>C (p.Gly98=)
n.1322G>C
n.2039G>C
 dbSNP
9g.95479081C>TCA466122601PTCH1c.936G>A (p.Gly312=)
c.1131G>A (p.Gly377=)
c.681G>A (p.Gly227=)
c.1134G>A (p.Gly378=)
c.285G>A (p.Gly95=)
c.771G>A (p.Gly257=)
c.294G>A (p.Gly98=)
n.1322G>A
n.2039G>A
 dbSNP
9g.95479084dupCA2695210935PTCH1c.936dup (p.Tyr313ValfsTer?)
c.1131dup (p.Tyr378ValfsTer?)
c.681dup (p.Tyr228ValfsTer?)
c.1134dup (p.Tyr379ValfsTer?)
c.285dup (p.Tyr96ValfsTer?)
c.771dup (p.Tyr258ValfsTer?)
c.294dup (p.Tyr99ValfsTer?)
n.1322dup
n.2039dup
9g.95479082C>ACA374119390PTCH1c.935G>T (p.Gly312Val)
c.1130G>T (p.Gly377Val)
c.680G>T (p.Gly227Val)
c.1133G>T (p.Gly378Val)
c.284G>T (p.Gly95Val)
c.770G>T (p.Gly257Val)
c.293G>T (p.Gly98Val)
n.1321G>T
n.2038G>T
9g.95479082C=CA1865649665PTCH1c.935G= (p.Gly312=)
c.1130G= (p.Gly377=)
c.680G= (p.Gly227=)
c.1133G= (p.Gly378=)
c.284G= (p.Gly95=)
c.770G= (p.Gly257=)
c.293G= (p.Gly98=)
n.1321G=
n.2038G=
9g.95479082C>GCA374119391PTCH1c.935G>C (p.Gly312Ala)
c.1130G>C (p.Gly377Ala)
c.680G>C (p.Gly227Ala)
c.1133G>C (p.Gly378Ala)
c.284G>C (p.Gly95Ala)
c.770G>C (p.Gly257Ala)
c.293G>C (p.Gly98Ala)
n.1321G>C
n.2038G>C
9g.95479082C>TCA374119392PTCH1c.935G>A (p.Gly312Glu)
c.1130G>A (p.Gly377Glu)
c.680G>A (p.Gly227Glu)
c.1133G>A (p.Gly378Glu)
c.284G>A (p.Gly95Glu)
c.770G>A (p.Gly257Glu)
c.293G>A (p.Gly98Glu)
n.1321G>A
n.2038G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.95479083C>ACA374119393PTCH1c.934G>T (p.Gly312Trp)
c.1129G>T (p.Gly377Trp)
c.679G>T (p.Gly227Trp)
c.1132G>T (p.Gly378Trp)
c.283G>T (p.Gly95Trp)
c.769G>T (p.Gly257Trp)
c.292G>T (p.Gly98Trp)
n.1320G>T
n.2037G>T
9g.95479083C>GCA374119394PTCH1c.934G>C (p.Gly312Arg)
c.1129G>C (p.Gly377Arg)
c.679G>C (p.Gly227Arg)
c.1132G>C (p.Gly378Arg)
c.283G>C (p.Gly95Arg)
c.769G>C (p.Gly257Arg)
c.292G>C (p.Gly98Arg)
n.1320G>C
n.2037G>C
9g.95479083C>TCA374119395PTCH1c.934G>A (p.Gly312Arg)
c.1129G>A (p.Gly377Arg)
c.679G>A (p.Gly227Arg)
c.1132G>A (p.Gly378Arg)
c.283G>A (p.Gly95Arg)
c.769G>A (p.Gly257Arg)
c.292G>A (p.Gly98Arg)
n.1320G>A
n.2037G>A
 ClinVar
9g.95479084C>ACA374119396PTCH1c.933G>T (p.Lys311Asn)
c.1128G>T (p.Lys376Asn)
c.678G>T (p.Lys226Asn)
c.1131G>T (p.Lys377Asn)
c.282G>T (p.Lys94Asn)
c.768G>T (p.Lys256Asn)
c.291G>T (p.Lys97Asn)
n.1319G>T
n.2036G>T
 ClinVar
9g.95479084C>GCA374119397PTCH1c.933G>C (p.Lys311Asn)
c.1128G>C (p.Lys376Asn)
c.678G>C (p.Lys226Asn)
c.1131G>C (p.Lys377Asn)
c.282G>C (p.Lys94Asn)
c.768G>C (p.Lys256Asn)
c.291G>C (p.Lys97Asn)
n.1319G>C
n.2036G>C
 ClinVar
9g.95479084C>TCA466122622PTCH1c.933G>A (p.Lys311=)
c.1128G>A (p.Lys376=)
c.678G>A (p.Lys226=)
c.1131G>A (p.Lys377=)
c.282G>A (p.Lys94=)
c.768G>A (p.Lys256=)
c.291G>A (p.Lys97=)
n.1319G>A
n.2036G>A
9g.95479085T>ACA374119400PTCH1c.932A>T (p.Lys311Met)
c.1127A>T (p.Lys376Met)
c.677A>T (p.Lys226Met)
c.1130A>T (p.Lys377Met)
c.281A>T (p.Lys94Met)
c.767A>T (p.Lys256Met)
c.290A>T (p.Lys97Met)
n.1318A>T
n.2035A>T
9g.95479085T>CCA374119399PTCH1c.932A>G (p.Lys311Arg)
c.1127A>G (p.Lys376Arg)
c.677A>G (p.Lys226Arg)
c.1130A>G (p.Lys377Arg)
c.281A>G (p.Lys94Arg)
c.767A>G (p.Lys256Arg)
c.290A>G (p.Lys97Arg)
n.1318A>G
n.2035A>G
 dbSNP gnomAD v4
9g.95479085T>GCA374119398PTCH1c.932A>C (p.Lys311Thr)
c.1127A>C (p.Lys376Thr)
c.677A>C (p.Lys226Thr)
c.1130A>C (p.Lys377Thr)
c.281A>C (p.Lys94Thr)
c.767A>C (p.Lys256Thr)
c.290A>C (p.Lys97Thr)
n.1318A>C
n.2035A>C
9g.95479086T>ACA374119403PTCH1c.931A>T (p.Lys311Ter)
c.1126A>T (p.Lys376Ter)
c.676A>T (p.Lys226Ter)
c.1129A>T (p.Lys377Ter)
c.280A>T (p.Lys94Ter)
c.766A>T (p.Lys256Ter)
c.289A>T (p.Lys97Ter)
n.1317A>T
n.2034A>T
9g.95479086T>CCA374119401PTCH1c.931A>G (p.Lys311Glu)
c.1126A>G (p.Lys376Glu)
c.676A>G (p.Lys226Glu)
c.1129A>G (p.Lys377Glu)
c.280A>G (p.Lys94Glu)
c.766A>G (p.Lys256Glu)
c.289A>G (p.Lys97Glu)
n.1317A>G
n.2034A>G
 ClinVar dbSNP gnomAD v4
9g.95479086T>GCA374119402PTCH1c.931A>C (p.Lys311Gln)
c.1126A>C (p.Lys376Gln)
c.676A>C (p.Lys226Gln)
c.1129A>C (p.Lys377Gln)
c.280A>C (p.Lys94Gln)
c.766A>C (p.Lys256Gln)
c.289A>C (p.Lys97Gln)
n.1317A>C
n.2034A>C
9g.95479086T=CA1865649670PTCH1c.931A= (p.Lys311=)
c.1126A= (p.Lys376=)
c.676A= (p.Lys226=)
c.1129A= (p.Lys377=)
c.280A= (p.Lys94=)
c.766A= (p.Lys256=)
c.289A= (p.Lys97=)
n.1317A=
n.2034A=
9g.95479086_95479087delinsTGCA1865649671PTCH1c.930_931delinsCA (p.Phe310=)
c.1125_1126delinsCA (p.Phe375=)
c.675_676delinsCA (p.Phe225=)
c.1128_1129delinsCA (p.Phe376=)
c.279_280delinsCA (p.Phe93=)
c.765_766delinsCA (p.Phe255=)
c.288_289delinsCA (p.Phe96=)
n.1316_1317delinsCA
n.2033_2034delinsCA
9g.95479087delCA915947070PTCH1c.930del (p.Phe310LeufsTer?)
c.1125del (p.Phe375LeufsTer?)
c.675del (p.Phe225LeufsTer?)
c.1128del (p.Phe376LeufsTer?)
c.279del (p.Phe93LeufsTer?)
c.765del (p.Phe255LeufsTer?)
c.288del (p.Phe96LeufsTer?)
n.1316del
n.2033del
 ClinVar dbSNP
9g.95479087G>ACA466122644PTCH1c.930C>T (p.Phe310=)
c.1125C>T (p.Phe375=)
c.675C>T (p.Phe225=)
c.1128C>T (p.Phe376=)
c.279C>T (p.Phe93=)
c.765C>T (p.Phe255=)
c.288C>T (p.Phe96=)
n.1316C>T
n.2033C>T
9g.95479087G>CCA337678PTCH1c.930C>G (p.Phe310Leu)
c.1125C>G (p.Phe375Leu)
c.675C>G (p.Phe225Leu)
c.1128C>G (p.Phe376Leu)
c.279C>G (p.Phe93Leu)
c.765C>G (p.Phe255Leu)
c.288C>G (p.Phe96Leu)
n.1316C>G
n.2033C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.95479087G=CA1865649686PTCH1c.930C= (p.Phe310=)
c.1125C= (p.Phe375=)
c.675C= (p.Phe225=)
c.1128C= (p.Phe376=)
c.279C= (p.Phe93=)
c.765C= (p.Phe255=)
c.288C= (p.Phe96=)
n.1316C=
n.2033C=
9g.95479087G>TCA374119404PTCH1c.930C>A (p.Phe310Leu)
c.1125C>A (p.Phe375Leu)
c.675C>A (p.Phe225Leu)
c.1128C>A (p.Phe376Leu)
c.279C>A (p.Phe93Leu)
c.765C>A (p.Phe255Leu)
c.288C>A (p.Phe96Leu)
n.1316C>A
n.2033C>A
9g.95479088A>CCA374119405PTCH1c.929T>G (p.Phe310Cys)
c.1124T>G (p.Phe375Cys)
c.674T>G (p.Phe225Cys)
c.1127T>G (p.Phe376Cys)
c.278T>G (p.Phe93Cys)
c.764T>G (p.Phe255Cys)
c.287T>G (p.Phe96Cys)
n.1315T>G
n.2032T>G
9g.95479088A>GCA374119406PTCH1c.929T>C (p.Phe310Ser)
c.1124T>C (p.Phe375Ser)
c.674T>C (p.Phe225Ser)
c.1127T>C (p.Phe376Ser)
c.278T>C (p.Phe93Ser)
c.764T>C (p.Phe255Ser)
c.287T>C (p.Phe96Ser)
n.1315T>C
n.2032T>C
9g.95479088A>TCA374119407PTCH1c.929T>A (p.Phe310Tyr)
c.1124T>A (p.Phe375Tyr)
c.674T>A (p.Phe225Tyr)
c.1127T>A (p.Phe376Tyr)
c.278T>A (p.Phe93Tyr)
c.764T>A (p.Phe255Tyr)
c.287T>A (p.Phe96Tyr)
n.1315T>A
n.2032T>A
9g.95479089delCA2580080867PTCH1c.929del (p.Phe310SerfsTer?)
c.1124del (p.Phe375SerfsTer?)
c.674del (p.Phe225SerfsTer?)
c.1127del (p.Phe376SerfsTer?)
c.278del (p.Phe93SerfsTer?)
c.764del (p.Phe255SerfsTer?)
c.287del (p.Phe96SerfsTer?)
n.1315del
n.2032del
 ClinVar
9g.95479089A>CCA374119408PTCH1c.928T>G (p.Phe310Val)
c.1123T>G (p.Phe375Val)
c.673T>G (p.Phe225Val)
c.1126T>G (p.Phe376Val)
c.277T>G (p.Phe93Val)
c.763T>G (p.Phe255Val)
c.286T>G (p.Phe96Val)
n.1314T>G
n.2031T>G
9g.95479089A>GCA374119409PTCH1c.928T>C (p.Phe310Leu)
c.1123T>C (p.Phe375Leu)
c.673T>C (p.Phe225Leu)
c.1126T>C (p.Phe376Leu)
c.277T>C (p.Phe93Leu)
c.763T>C (p.Phe255Leu)
c.286T>C (p.Phe96Leu)
n.1314T>C
n.2031T>C
 ClinVar
9g.95479089A>TCA374119410PTCH1c.928T>A (p.Phe310Ile)
c.1123T>A (p.Phe375Ile)
c.673T>A (p.Phe225Ile)
c.1126T>A (p.Phe376Ile)
c.277T>A (p.Phe93Ile)
c.763T>A (p.Phe255Ile)
c.286T>A (p.Phe96Ile)
n.1314T>A
n.2031T>A
9g.95479090G>ACA466122691PTCH1c.927C>T (p.His309=)
c.1122C>T (p.His374=)
c.672C>T (p.His224=)
c.1125C>T (p.His375=)
c.276C>T (p.His92=)
c.762C>T (p.His254=)
c.285C>T (p.His95=)
n.1313C>T
n.2030C>T
 dbSNP
9g.95479090G>CCA374119411PTCH1c.927C>G (p.His309Gln)
c.1122C>G (p.His374Gln)
c.672C>G (p.His224Gln)
c.1125C>G (p.His375Gln)
c.276C>G (p.His92Gln)
c.762C>G (p.His254Gln)
c.285C>G (p.His95Gln)
n.1313C>G
n.2030C>G
9g.95479090G>TCA374119412PTCH1c.927C>A (p.His309Gln)
c.1122C>A (p.His374Gln)
c.672C>A (p.His224Gln)
c.1125C>A (p.His375Gln)
c.276C>A (p.His92Gln)
c.762C>A (p.His254Gln)
c.285C>A (p.His95Gln)
n.1313C>A
n.2030C>A
9g.95479091T>ACA374119414PTCH1c.926A>T (p.His309Leu)
c.1121A>T (p.His374Leu)
c.671A>T (p.His224Leu)
c.1124A>T (p.His375Leu)
c.275A>T (p.His92Leu)
c.761A>T (p.His254Leu)
c.284A>T (p.His95Leu)
n.1312A>T
n.2029A>T
 ClinVar
9g.95479091T>CCA374119415PTCH1c.926A>G (p.His309Arg)
c.1121A>G (p.His374Arg)
c.671A>G (p.His224Arg)
c.1124A>G (p.His375Arg)
c.275A>G (p.His92Arg)
c.761A>G (p.His254Arg)
c.284A>G (p.His95Arg)
n.1312A>G
n.2029A>G
 dbSNP
9g.95479091T>GCA374119413PTCH1c.926A>C (p.His309Pro)
c.1121A>C (p.His374Pro)
c.671A>C (p.His224Pro)
c.1124A>C (p.His375Pro)
c.275A>C (p.His92Pro)
c.761A>C (p.His254Pro)
c.284A>C (p.His95Pro)
n.1312A>C
n.2029A>C
9g.95479091T=CA1865649696PTCH1c.926A= (p.His309=)
c.1121A= (p.His374=)
c.671A= (p.His224=)
c.1124A= (p.His375=)
c.275A= (p.His92=)
c.761A= (p.His254=)
c.284A= (p.His95=)
n.1312A=
n.2029A=
9g.95479092G>ACA5138755PTCH1c.925C>T (p.His309Tyr)
c.1120C>T (p.His374Tyr)
c.670C>T (p.His224Tyr)
c.1123C>T (p.His375Tyr)
c.274C>T (p.His92Tyr)
c.760C>T (p.His254Tyr)
c.283C>T (p.His95Tyr)
n.1311C>T
n.2028C>T
 dbSNP ExAC gnomAD v3 gnomAD v4
9g.95479092G>CCA374119416PTCH1c.925C>G (p.His309Asp)
c.1120C>G (p.His374Asp)
c.670C>G (p.His224Asp)
c.1123C>G (p.His375Asp)
c.274C>G (p.His92Asp)
c.760C>G (p.His254Asp)
c.283C>G (p.His95Asp)
n.1311C>G
n.2028C>G
9g.95479092G=CA1865649704PTCH1c.925C= (p.His309=)
c.1120C= (p.His374=)
c.670C= (p.His224=)
c.1123C= (p.His375=)
c.274C= (p.His92=)
c.760C= (p.His254=)
c.283C= (p.His95=)
n.1311C=
n.2028C=
9g.95479092G>TCA374119417PTCH1c.925C>A (p.His309Asn)
c.1120C>A (p.His374Asn)
c.670C>A (p.His224Asn)
c.1123C>A (p.His375Asn)
c.274C>A (p.His92Asn)
c.760C>A (p.His254Asn)
c.283C>A (p.His95Asn)
n.1311C>A
n.2028C>A
9g.95479093C>ACA374119418PTCH1c.924G>T (p.Glu308Asp)
c.1119G>T (p.Glu373Asp)
c.669G>T (p.Glu223Asp)
c.1122G>T (p.Glu374Asp)
c.273G>T (p.Glu91Asp)
c.759G>T (p.Glu253Asp)
c.282G>T (p.Glu94Asp)
n.1310G>T
n.2027G>T
 ClinVar
9g.95479093C>GCA374119419PTCH1c.924G>C (p.Glu308Asp)
c.1119G>C (p.Glu373Asp)
c.669G>C (p.Glu223Asp)
c.1122G>C (p.Glu374Asp)
c.273G>C (p.Glu91Asp)
c.759G>C (p.Glu253Asp)
c.282G>C (p.Glu94Asp)
n.1310G>C
n.2027G>C
9g.95479093C>TCA466122722PTCH1c.924G>A (p.Glu308=)
c.1119G>A (p.Glu373=)
c.669G>A (p.Glu223=)
c.1122G>A (p.Glu374=)
c.273G>A (p.Glu91=)
c.759G>A (p.Glu253=)
c.282G>A (p.Glu94=)
n.1310G>A
n.2027G>A
9g.95479094T>ACA374119422PTCH1c.923A>T (p.Glu308Val)
c.1118A>T (p.Glu373Val)
c.668A>T (p.Glu223Val)
c.1121A>T (p.Glu374Val)
c.272A>T (p.Glu91Val)
c.758A>T (p.Glu253Val)
c.281A>T (p.Glu94Val)
n.1309A>T
n.2026A>T
9g.95479094T>CCA374119420PTCH1c.923A>G (p.Glu308Gly)
c.1118A>G (p.Glu373Gly)
c.668A>G (p.Glu223Gly)
c.1121A>G (p.Glu374Gly)
c.272A>G (p.Glu91Gly)
c.758A>G (p.Glu253Gly)
c.281A>G (p.Glu94Gly)
n.1309A>G
n.2026A>G
9g.95479094T>GCA374119421PTCH1c.923A>C (p.Glu308Ala)
c.1118A>C (p.Glu373Ala)
c.668A>C (p.Glu223Ala)
c.1121A>C (p.Glu374Ala)
c.272A>C (p.Glu91Ala)
c.758A>C (p.Glu253Ala)
c.281A>C (p.Glu94Ala)
n.1309A>C
n.2026A>C
9g.95479095C>ACA374119423PTCH1c.922G>T (p.Glu308Ter)
c.1117G>T (p.Glu373Ter)
c.667G>T (p.Glu223Ter)
c.1120G>T (p.Glu374Ter)
c.271G>T (p.Glu91Ter)
c.757G>T (p.Glu253Ter)
c.280G>T (p.Glu94Ter)
n.1308G>T
n.2025G>T
 ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC
9g.95479095C=CA1865649714PTCH1c.922G= (p.Glu308=)
c.1117G= (p.Glu373=)
c.667G= (p.Glu223=)
c.1120G= (p.Glu374=)
c.271G= (p.Glu91=)
c.757G= (p.Glu253=)
c.280G= (p.Glu94=)
n.1308G=
n.2025G=
9g.95479095C>GCA374119424PTCH1c.922G>C (p.Glu308Gln)
c.1117G>C (p.Glu373Gln)
c.667G>C (p.Glu223Gln)
c.1120G>C (p.Glu374Gln)
c.271G>C (p.Glu91Gln)
c.757G>C (p.Glu253Gln)
c.280G>C (p.Glu94Gln)
n.1308G>C
n.2025G>C
 ClinVar
9g.95479095C>TCA5138756PTCH1c.922G>A (p.Glu308Lys)
c.1117G>A (p.Glu373Lys)
c.667G>A (p.Glu223Lys)
c.1120G>A (p.Glu374Lys)
c.271G>A (p.Glu91Lys)
c.757G>A (p.Glu253Lys)
c.280G>A (p.Glu94Lys)
n.1308G>A
n.2025G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
9g.95479095_95479096delinsCGCA1865649717PTCH1c.921_922delinsCG (p.Tyr307=)
c.1116_1117delinsCG (p.Tyr372=)
c.666_667delinsCG (p.Tyr222=)
c.1119_1120delinsCG (p.Tyr373=)
c.270_271delinsCG (p.Tyr90=)
c.756_757delinsCG (p.Tyr252=)
c.279_280delinsCG (p.Tyr93=)
n.1307_1308delinsCG
n.2024_2025delinsCG
9g.95479096delCA645369455PTCH1c.921del (p.Tyr307Ter)
c.1116del (p.Tyr372Ter)
c.666del (p.Tyr222Ter)
c.1119del (p.Tyr373Ter)
c.270del (p.Tyr90Ter)
c.756del (p.Tyr252Ter)
c.279del (p.Tyr93Ter)
n.1307del
n.2024del
 ClinVar dbSNP
9g.95479096G>ACA349274PTCH1c.921C>T (p.Tyr307=)
c.1116C>T (p.Tyr372=)
c.666C>T (p.Tyr222=)
c.1119C>T (p.Tyr373=)
c.270C>T (p.Tyr90=)
c.756C>T (p.Tyr252=)
c.279C>T (p.Tyr93=)
n.1307C>T
n.2024C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95479096G>CCA374119425PTCH1c.921C>G (p.Tyr307Ter)
c.1116C>G (p.Tyr372Ter)
c.666C>G (p.Tyr222Ter)
c.1119C>G (p.Tyr373Ter)
c.270C>G (p.Tyr90Ter)
c.756C>G (p.Tyr252Ter)
c.279C>G (p.Tyr93Ter)
n.1307C>G
n.2024C>G
 ClinVar dbSNP
9g.95479096G=CA1865649725PTCH1c.921C= (p.Tyr307=)
c.1116C= (p.Tyr372=)
c.666C= (p.Tyr222=)
c.1119C= (p.Tyr373=)
c.270C= (p.Tyr90=)
c.756C= (p.Tyr252=)
c.279C= (p.Tyr93=)
n.1307C=
n.2024C=
9g.95479096G>TCA374119426PTCH1c.921C>A (p.Tyr307Ter)
c.1116C>A (p.Tyr372Ter)
c.666C>A (p.Tyr222Ter)
c.1119C>A (p.Tyr373Ter)
c.270C>A (p.Tyr90Ter)
c.756C>A (p.Tyr252Ter)
c.279C>A (p.Tyr93Ter)
n.1307C>A
n.2024C>A
9g.95479097T>ACA196594985PTCH1c.920A>T (p.Tyr307Phe)
c.1115A>T (p.Tyr372Phe)
c.665A>T (p.Tyr222Phe)
c.1118A>T (p.Tyr373Phe)
c.269A>T (p.Tyr90Phe)
c.755A>T (p.Tyr252Phe)
c.278A>T (p.Tyr93Phe)
n.1306A>T
n.2023A>T
 dbSNP
9g.95479097T>CCA374119428PTCH1c.920A>G (p.Tyr307Cys)
c.1115A>G (p.Tyr372Cys)
c.665A>G (p.Tyr222Cys)
c.1118A>G (p.Tyr373Cys)
c.269A>G (p.Tyr90Cys)
c.755A>G (p.Tyr252Cys)
c.278A>G (p.Tyr93Cys)
n.1306A>G
n.2023A>G
 ClinVar
9g.95479097T>GCA374119427PTCH1c.920A>C (p.Tyr307Ser)
c.1115A>C (p.Tyr372Ser)
c.665A>C (p.Tyr222Ser)
c.1118A>C (p.Tyr373Ser)
c.269A>C (p.Tyr90Ser)
c.755A>C (p.Tyr252Ser)
c.278A>C (p.Tyr93Ser)
n.1306A>C
n.2023A>C
9g.95479097T=CA1865649735PTCH1c.920A= (p.Tyr307=)
c.1115A= (p.Tyr372=)
c.665A= (p.Tyr222=)
c.1118A= (p.Tyr373=)
c.269A= (p.Tyr90=)
c.755A= (p.Tyr252=)
c.278A= (p.Tyr93=)
n.1306A=
n.2023A=
9g.95479098A>CCA374119429PTCH1c.919T>G (p.Tyr307Asp)
c.1114T>G (p.Tyr372Asp)
c.664T>G (p.Tyr222Asp)
c.1117T>G (p.Tyr373Asp)
c.268T>G (p.Tyr90Asp)
c.754T>G (p.Tyr252Asp)
c.277T>G (p.Tyr93Asp)
n.1305T>G
n.2022T>G
9g.95479098A>GCA374119430PTCH1c.919T>C (p.Tyr307His)
c.1114T>C (p.Tyr372His)
c.664T>C (p.Tyr222His)
c.1117T>C (p.Tyr373His)
c.268T>C (p.Tyr90His)
c.754T>C (p.Tyr252His)
c.277T>C (p.Tyr93His)
n.1305T>C
n.2022T>C
9g.95479098A>TCA374119431PTCH1c.919T>A (p.Tyr307Asn)
c.1114T>A (p.Tyr372Asn)
c.664T>A (p.Tyr222Asn)
c.1117T>A (p.Tyr373Asn)
c.268T>A (p.Tyr90Asn)
c.754T>A (p.Tyr252Asn)
c.277T>A (p.Tyr93Asn)
n.1305T>A
n.2022T>A
9g.95479099C>ACA374119432PTCH1c.918G>T (p.Met306Ile)
c.1113G>T (p.Met371Ile)
c.663G>T (p.Met221Ile)
c.1116G>T (p.Met372Ile)
c.267G>T (p.Met89Ile)
c.753G>T (p.Met251Ile)
c.276G>T (p.Met92Ile)
n.1304G>T
n.2021G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.95479099C=CA1865649741PTCH1c.918G= (p.Met306=)
c.1113G= (p.Met371=)
c.663G= (p.Met221=)
c.1116G= (p.Met372=)
c.267G= (p.Met89=)
c.753G= (p.Met251=)
c.276G= (p.Met92=)
n.1304G=
n.2021G=
9g.95479099C>GCA374119433PTCH1c.918G>C (p.Met306Ile)
c.1113G>C (p.Met371Ile)
c.663G>C (p.Met221Ile)
c.1116G>C (p.Met372Ile)
c.267G>C (p.Met89Ile)
c.753G>C (p.Met251Ile)
c.276G>C (p.Met92Ile)
n.1304G>C
n.2021G>C
 dbSNP
9g.95479099C>TCA374119434PTCH1c.918G>A (p.Met306Ile)
c.1113G>A (p.Met371Ile)
c.663G>A (p.Met221Ile)
c.1116G>A (p.Met372Ile)
c.267G>A (p.Met89Ile)
c.753G>A (p.Met251Ile)
c.276G>A (p.Met92Ile)
n.1304G>A
n.2021G>A
 ClinVar gnomAD v4
9g.95479100A>CCA374119437PTCH1c.917T>G (p.Met306Arg)
c.1112T>G (p.Met371Arg)
c.662T>G (p.Met221Arg)
c.1115T>G (p.Met372Arg)
c.266T>G (p.Met89Arg)
c.752T>G (p.Met251Arg)
c.275T>G (p.Met92Arg)
n.1303T>G
n.2020T>G
9g.95479100A>GCA374119435PTCH1c.917T>C (p.Met306Thr)
c.1112T>C (p.Met371Thr)
c.662T>C (p.Met221Thr)
c.1115T>C (p.Met372Thr)
c.266T>C (p.Met89Thr)
c.752T>C (p.Met251Thr)
c.275T>C (p.Met92Thr)
n.1303T>C
n.2020T>C
9g.95479100A>TCA374119436PTCH1c.917T>A (p.Met306Lys)
c.1112T>A (p.Met371Lys)
c.662T>A (p.Met221Lys)
c.1115T>A (p.Met372Lys)
c.266T>A (p.Met89Lys)
c.752T>A (p.Met251Lys)
c.275T>A (p.Met92Lys)
n.1303T>A
n.2020T>A
9g.95479101T>ACA374119438PTCH1c.916A>T (p.Met306Leu)
c.1111A>T (p.Met371Leu)
c.661A>T (p.Met221Leu)
c.1114A>T (p.Met372Leu)
c.265A>T (p.Met89Leu)
c.751A>T (p.Met251Leu)
c.274A>T (p.Met92Leu)
n.1302A>T
n.2019A>T
9g.95479101T>CCA374119439PTCH1c.916A>G (p.Met306Val)
c.1111A>G (p.Met371Val)
c.661A>G (p.Met221Val)
c.1114A>G (p.Met372Val)
c.265A>G (p.Met89Val)
c.751A>G (p.Met251Val)
c.274A>G (p.Met92Val)
n.1302A>G
n.2019A>G
 ClinVar
9g.95479101T>GCA374119440PTCH1c.916A>C (p.Met306Leu)
c.1111A>C (p.Met371Leu)
c.661A>C (p.Met221Leu)
c.1114A>C (p.Met372Leu)
c.265A>C (p.Met89Leu)
c.751A>C (p.Met251Leu)
c.274A>C (p.Met92Leu)
n.1302A>C
n.2019A>C
9g.95479103delCA2695210936PTCH1c.916del (p.Met306CysfsTer?)
c.1111del (p.Met371CysfsTer?)
c.661del (p.Met221CysfsTer?)
c.1114del (p.Met372CysfsTer?)
c.265del (p.Met89CysfsTer?)
c.751del (p.Met251CysfsTer?)
c.274del (p.Met92CysfsTer?)
n.1302del
n.2019del
9g.95479102_95479103delCA2695210937PTCH1c.915_916del (p.Gln305HisfsTer?)
c.1110_1111del (p.Gln370HisfsTer?)
c.660_661del (p.Gln220HisfsTer?)
c.1113_1114del (p.Gln371HisfsTer?)
c.264_265del (p.Gln88HisfsTer?)
c.750_751del (p.Gln250HisfsTer?)
c.273_274del (p.Gln91HisfsTer?)
n.1301_1302del
n.2018_2019del
9g.95479102T>ACA374119441PTCH1c.915A>T (p.Gln305His)
c.1110A>T (p.Gln370His)
c.660A>T (p.Gln220His)
c.1113A>T (p.Gln371His)
c.264A>T (p.Gln88His)
c.750A>T (p.Gln250His)
c.273A>T (p.Gln91His)
n.1301A>T
n.2018A>T
9g.95479102T>CCA466122758PTCH1c.915A>G (p.Gln305=)
c.1110A>G (p.Gln370=)
c.660A>G (p.Gln220=)
c.1113A>G (p.Gln371=)
c.264A>G (p.Gln88=)
c.750A>G (p.Gln250=)
c.273A>G (p.Gln91=)
n.1301A>G
n.2018A>G
9g.95479102T>GCA374119442PTCH1c.915A>C (p.Gln305His)
c.1110A>C (p.Gln370His)
c.660A>C (p.Gln220His)
c.1113A>C (p.Gln371His)
c.264A>C (p.Gln88His)
c.750A>C (p.Gln250His)
c.273A>C (p.Gln91His)
n.1301A>C
n.2018A>C
9g.95479103T>ACA374119445PTCH1c.914A>T (p.Gln305Leu)
c.1109A>T (p.Gln370Leu)
c.659A>T (p.Gln220Leu)
c.1112A>T (p.Gln371Leu)
c.263A>T (p.Gln88Leu)
c.749A>T (p.Gln250Leu)
c.272A>T (p.Gln91Leu)
n.1300A>T
n.2017A>T
9g.95479103T>CCA374119443PTCH1c.914A>G (p.Gln305Arg)
c.1109A>G (p.Gln370Arg)
c.659A>G (p.Gln220Arg)
c.1112A>G (p.Gln371Arg)
c.263A>G (p.Gln88Arg)
c.749A>G (p.Gln250Arg)
c.272A>G (p.Gln91Arg)
n.1300A>G
n.2017A>G
9g.95479103T>GCA374119444PTCH1c.914A>C (p.Gln305Pro)
c.1109A>C (p.Gln370Pro)
c.659A>C (p.Gln220Pro)
c.1112A>C (p.Gln371Pro)
c.263A>C (p.Gln88Pro)
c.749A>C (p.Gln250Pro)
c.272A>C (p.Gln91Pro)
n.1300A>C
n.2017A>C
9g.95479104G>ACA374119446PTCH1c.913C>T (p.Gln305Ter)
c.1108C>T (p.Gln370Ter)
c.658C>T (p.Gln220Ter)
c.1111C>T (p.Gln371Ter)
c.262C>T (p.Gln88Ter)
c.748C>T (p.Gln250Ter)
c.271C>T (p.Gln91Ter)
n.1299C>T
n.2016C>T
9g.95479104G>CCA374119447PTCH1c.913C>G (p.Gln305Glu)
c.1108C>G (p.Gln370Glu)
c.658C>G (p.Gln220Glu)
c.1111C>G (p.Gln371Glu)
c.262C>G (p.Gln88Glu)
c.748C>G (p.Gln250Glu)
c.271C>G (p.Gln91Glu)
n.1299C>G
n.2016C>G
9g.95479104G>TCA374119448PTCH1c.913C>A (p.Gln305Lys)
c.1108C>A (p.Gln370Lys)
c.658C>A (p.Gln220Lys)
c.1111C>A (p.Gln371Lys)
c.262C>A (p.Gln88Lys)
c.748C>A (p.Gln250Lys)
c.271C>A (p.Gln91Lys)
n.1299C>A
n.2016C>A
9g.95479105C>ACA374119449PTCH1c.912G>T (p.Lys304Asn)
c.1107G>T (p.Lys369Asn)
c.657G>T (p.Lys219Asn)
c.1110G>T (p.Lys370Asn)
c.261G>T (p.Lys87Asn)
c.747G>T (p.Lys249Asn)
c.270G>T (p.Lys90Asn)
n.1298G>T
n.2015G>T
9g.95479105C=CA1865649748PTCH1c.912G= (p.Lys304=)
c.1107G= (p.Lys369=)
c.657G= (p.Lys219=)
c.1110G= (p.Lys370=)
c.261G= (p.Lys87=)
c.747G= (p.Lys249=)
c.270G= (p.Lys90=)
n.1298G=
n.2015G=
9g.95479105C>GCA374119450PTCH1c.912G>C (p.Lys304Asn)
c.1107G>C (p.Lys369Asn)
c.657G>C (p.Lys219Asn)
c.1110G>C (p.Lys370Asn)
c.261G>C (p.Lys87Asn)
c.747G>C (p.Lys249Asn)
c.270G>C (p.Lys90Asn)
n.1298G>C
n.2015G>C
9g.95479105C>TCA5138757PTCH1c.912G>A (p.Lys304=)
c.1107G>A (p.Lys369=)
c.657G>A (p.Lys219=)
c.1110G>A (p.Lys370=)
c.261G>A (p.Lys87=)
c.747G>A (p.Lys249=)
c.270G>A (p.Lys90=)
n.1298G>A
n.2015G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95479106T>ACA374119451PTCH1c.911A>T (p.Lys304Met)
c.1106A>T (p.Lys369Met)
c.656A>T (p.Lys219Met)
c.1109A>T (p.Lys370Met)
c.260A>T (p.Lys87Met)
c.746A>T (p.Lys249Met)
c.269A>T (p.Lys90Met)
n.1297A>T
n.2014A>T
 ClinVar dbSNP
9g.95479106T>CCA5138758PTCH1c.911A>G (p.Lys304Arg)
c.1106A>G (p.Lys369Arg)
c.656A>G (p.Lys219Arg)
c.1109A>G (p.Lys370Arg)
c.260A>G (p.Lys87Arg)
c.746A>G (p.Lys249Arg)
c.269A>G (p.Lys90Arg)
n.1297A>G
n.2014A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.95479106T>GCA374119452PTCH1c.911A>C (p.Lys304Thr)
c.1106A>C (p.Lys369Thr)
c.656A>C (p.Lys219Thr)
c.1109A>C (p.Lys370Thr)
c.260A>C (p.Lys87Thr)
c.746A>C (p.Lys249Thr)
c.269A>C (p.Lys90Thr)
n.1297A>C
n.2014A>C
9g.95479106T=CA1865649769PTCH1c.911A= (p.Lys304=)
c.1106A= (p.Lys369=)
c.656A= (p.Lys219=)
c.1109A= (p.Lys370=)
c.260A= (p.Lys87=)
c.746A= (p.Lys249=)
c.269A= (p.Lys90=)
n.1297A=
n.2014A=
9g.95479107T>ACA374119453PTCH1c.910A>T (p.Lys304Ter)
c.1105A>T (p.Lys369Ter)
c.655A>T (p.Lys219Ter)
c.1108A>T (p.Lys370Ter)
c.259A>T (p.Lys87Ter)
c.745A>T (p.Lys249Ter)
c.268A>T (p.Lys90Ter)
n.1296A>T
n.2013A>T
9g.95479107T>CCA374119454PTCH1c.910A>G (p.Lys304Glu)
c.1105A>G (p.Lys369Glu)
c.655A>G (p.Lys219Glu)
c.1108A>G (p.Lys370Glu)
c.259A>G (p.Lys87Glu)
c.745A>G (p.Lys249Glu)
c.268A>G (p.Lys90Glu)
n.1296A>G
n.2013A>G
9g.95479107T>GCA374119455PTCH1c.910A>C (p.Lys304Gln)
c.1105A>C (p.Lys369Gln)
c.655A>C (p.Lys219Gln)
c.1108A>C (p.Lys370Gln)
c.259A>C (p.Lys87Gln)
c.745A>C (p.Lys249Gln)
c.268A>C (p.Lys90Gln)
n.1296A>C
n.2013A>C
9g.95479108_95479116dupCA2695210938PTCH1c.902_910dup (p.Pro303_Lys304insMetThrPro)
c.1097_1105dup (p.Pro368_Lys369insMetThrPro)
c.647_655dup (p.Pro218_Lys219insMetThrPro)
c.1100_1108dup (p.Pro369_Lys370insMetThrPro)
c.251_259dup (p.Pro86_Lys87insMetThrPro)
c.737_745dup (p.Pro248_Lys249insMetThrPro)
c.260_268dup (p.Pro89_Lys90insMetThrPro)
n.1288_1296dup
n.2005_2013dup
9g.95479108G>ACA466122789PTCH1c.909C>T (p.Pro303=)
c.1104C>T (p.Pro368=)
c.654C>T (p.Pro218=)
c.1107C>T (p.Pro369=)
c.258C>T (p.Pro86=)
c.744C>T (p.Pro248=)
c.267C>T (p.Pro89=)
n.1295C>T
n.2012C>T
 ClinVar dbSNP
9g.95479108G>CCA466122784PTCH1c.909C>G (p.Pro303=)
c.1104C>G (p.Pro368=)
c.654C>G (p.Pro218=)
c.1107C>G (p.Pro369=)
c.258C>G (p.Pro86=)
c.744C>G (p.Pro248=)
c.267C>G (p.Pro89=)
n.1295C>G
n.2012C>G
9g.95479108G>TCA466122786PTCH1c.909C>A (p.Pro303=)
c.1104C>A (p.Pro368=)
c.654C>A (p.Pro218=)
c.1107C>A (p.Pro369=)
c.258C>A (p.Pro86=)
c.744C>A (p.Pro248=)
c.267C>A (p.Pro89=)
n.1295C>A
n.2012C>A
 COSMIC COSMIC COSMIC COSMIC
9g.95479109G>ACA374119456PTCH1c.908C>T (p.Pro303Leu)
c.1103C>T (p.Pro368Leu)
c.653C>T (p.Pro218Leu)
c.1106C>T (p.Pro369Leu)
c.257C>T (p.Pro86Leu)
c.743C>T (p.Pro248Leu)
c.266C>T (p.Pro89Leu)
n.1294C>T
n.2011C>T
9g.95479109G>CCA374119458PTCH1c.908C>G (p.Pro303Arg)
c.1103C>G (p.Pro368Arg)
c.653C>G (p.Pro218Arg)
c.1106C>G (p.Pro369Arg)
c.257C>G (p.Pro86Arg)
c.743C>G (p.Pro248Arg)
c.266C>G (p.Pro89Arg)
n.1294C>G
n.2011C>G
9g.95479109G>TCA374119457PTCH1c.908C>A (p.Pro303His)
c.1103C>A (p.Pro368His)
c.653C>A (p.Pro218His)
c.1106C>A (p.Pro369His)
c.257C>A (p.Pro86His)
c.743C>A (p.Pro248His)
c.266C>A (p.Pro89His)
n.1294C>A
n.2011C>A
9g.95479110G>ACA374119459PTCH1c.907C>T (p.Pro303Ser)
c.1102C>T (p.Pro368Ser)
c.652C>T (p.Pro218Ser)
c.1105C>T (p.Pro369Ser)
c.256C>T (p.Pro86Ser)
c.742C>T (p.Pro248Ser)
c.265C>T (p.Pro89Ser)
n.1293C>T
n.2010C>T
9g.95479110G>CCA374119460PTCH1c.907C>G (p.Pro303Ala)
c.1102C>G (p.Pro368Ala)
c.652C>G (p.Pro218Ala)
c.1105C>G (p.Pro369Ala)
c.256C>G (p.Pro86Ala)
c.742C>G (p.Pro248Ala)
c.265C>G (p.Pro89Ala)
n.1293C>G
n.2010C>G
9g.95479110G>TCA374119461PTCH1c.907C>A (p.Pro303Thr)
c.1102C>A (p.Pro368Thr)
c.652C>A (p.Pro218Thr)
c.1105C>A (p.Pro369Thr)
c.256C>A (p.Pro86Thr)
c.742C>A (p.Pro248Thr)
c.265C>A (p.Pro89Thr)
n.1293C>A
n.2010C>A
9g.95479111delCA2739264785PTCH1c.906del (p.Lys304SerfsTer?)
c.1101del (p.Lys369SerfsTer?)
c.651del (p.Lys219SerfsTer?)
c.1104del (p.Lys370SerfsTer?)
c.255del (p.Lys87SerfsTer?)
c.741del (p.Lys249SerfsTer?)
c.264del (p.Lys90SerfsTer?)
n.1292del
n.2009del
 ClinVar
9g.95479111A=CA1865649776PTCH1c.906T= (p.Thr302=)
c.1101T= (p.Thr367=)
c.651T= (p.Thr217=)
c.1104T= (p.Thr368=)
c.255T= (p.Thr85=)
c.741T= (p.Thr247=)
c.264T= (p.Thr88=)
n.1292T=
n.2009T=
9g.95479111A>CCA466122801PTCH1c.906T>G (p.Thr302=)
c.1101T>G (p.Thr367=)
c.651T>G (p.Thr217=)
c.1104T>G (p.Thr368=)
c.255T>G (p.Thr85=)
c.741T>G (p.Thr247=)
c.264T>G (p.Thr88=)
n.1292T>G
n.2009T>G
9g.95479111A>GCA466122802PTCH1c.906T>C (p.Thr302=)
c.1101T>C (p.Thr367=)
c.651T>C (p.Thr217=)
c.1104T>C (p.Thr368=)
c.255T>C (p.Thr85=)
c.741T>C (p.Thr247=)
c.264T>C (p.Thr88=)
n.1292T>C
n.2009T>C
 ClinVar dbSNP gnomAD v2
9g.95479111A>TCA466122804PTCH1c.906T>A (p.Thr302=)
c.1101T>A (p.Thr367=)
c.651T>A (p.Thr217=)
c.1104T>A (p.Thr368=)
c.255T>A (p.Thr85=)
c.741T>A (p.Thr247=)
c.264T>A (p.Thr88=)
n.1292T>A
n.2009T>A
9g.95479112G>ACA374119462PTCH1c.905C>T (p.Thr302Ile)
c.1100C>T (p.Thr367Ile)
c.650C>T (p.Thr217Ile)
c.1103C>T (p.Thr368Ile)
c.254C>T (p.Thr85Ile)
c.740C>T (p.Thr247Ile)
c.263C>T (p.Thr88Ile)
n.1291C>T
n.2008C>T
9g.95479112G>CCA374119463PTCH1c.905C>G (p.Thr302Ser)
c.1100C>G (p.Thr367Ser)
c.650C>G (p.Thr217Ser)
c.1103C>G (p.Thr368Ser)
c.254C>G (p.Thr85Ser)
c.740C>G (p.Thr247Ser)
c.263C>G (p.Thr88Ser)
n.1291C>G
n.2008C>G
9g.95479112G>TCA374119464PTCH1c.905C>A (p.Thr302Asn)
c.1100C>A (p.Thr367Asn)
c.650C>A (p.Thr217Asn)
c.1103C>A (p.Thr368Asn)
c.254C>A (p.Thr85Asn)
c.740C>A (p.Thr247Asn)
c.263C>A (p.Thr88Asn)
n.1291C>A
n.2008C>A
9g.95479113T>ACA374119465PTCH1c.904A>T (p.Thr302Ser)
c.1099A>T (p.Thr367Ser)
c.649A>T (p.Thr217Ser)
c.1102A>T (p.Thr368Ser)
c.253A>T (p.Thr85Ser)
c.739A>T (p.Thr247Ser)
c.262A>T (p.Thr88Ser)
n.1290A>T
n.2007A>T
9g.95479113T>CCA374119466PTCH1c.904A>G (p.Thr302Ala)
c.1099A>G (p.Thr367Ala)
c.649A>G (p.Thr217Ala)
c.1102A>G (p.Thr368Ala)
c.253A>G (p.Thr85Ala)
c.739A>G (p.Thr247Ala)
c.262A>G (p.Thr88Ala)
n.1290A>G
n.2007A>G
9g.95479113T>GCA374119467PTCH1c.904A>C (p.Thr302Pro)
c.1099A>C (p.Thr367Pro)
c.649A>C (p.Thr217Pro)
c.1102A>C (p.Thr368Pro)
c.253A>C (p.Thr85Pro)
c.739A>C (p.Thr247Pro)
c.262A>C (p.Thr88Pro)
n.1290A>C
n.2007A>C
9g.95479113dupCA2843301116PTCH1c.904dup (p.Thr302AsnfsTer?)
c.1099dup (p.Thr367AsnfsTer?)
c.649dup (p.Thr217AsnfsTer?)
c.1102dup (p.Thr368AsnfsTer?)
c.253dup (p.Thr85AsnfsTer?)
c.739dup (p.Thr247AsnfsTer?)
c.262dup (p.Thr88AsnfsTer?)
n.1290dup
n.2007dup
9g.95479114C>ACA374119468PTCH1c.903G>T (p.Met301Ile)
c.1098G>T (p.Met366Ile)
c.648G>T (p.Met216Ile)
c.1101G>T (p.Met367Ile)
c.252G>T (p.Met84Ile)
c.738G>T (p.Met246Ile)
c.261G>T (p.Met87Ile)
n.1289G>T
n.2006G>T
9g.95479114C>GCA374119469PTCH1c.903G>C (p.Met301Ile)
c.1098G>C (p.Met366Ile)
c.648G>C (p.Met216Ile)
c.1101G>C (p.Met367Ile)
c.252G>C (p.Met84Ile)
c.738G>C (p.Met246Ile)
c.261G>C (p.Met87Ile)
n.1289G>C
n.2006G>C
9g.95479114C>TCA374119470PTCH1c.903G>A (p.Met301Ile)
c.1098G>A (p.Met366Ile)
c.648G>A (p.Met216Ile)
c.1101G>A (p.Met367Ile)
c.252G>A (p.Met84Ile)
c.738G>A (p.Met246Ile)
c.261G>A (p.Met87Ile)
n.1289G>A
n.2006G>A
9g.95479115A>CCA374119473PTCH1c.902T>G (p.Met301Arg)
c.1097T>G (p.Met366Arg)
c.647T>G (p.Met216Arg)
c.1100T>G (p.Met367Arg)
c.251T>G (p.Met84Arg)
c.737T>G (p.Met246Arg)
c.260T>G (p.Met87Arg)
n.1288T>G
n.2005T>G
9g.95479115A>GCA374119471PTCH1c.902T>C (p.Met301Thr)
c.1097T>C (p.Met366Thr)
c.647T>C (p.Met216Thr)
c.1100T>C (p.Met367Thr)
c.251T>C (p.Met84Thr)
c.737T>C (p.Met246Thr)
c.260T>C (p.Met87Thr)
n.1288T>C
n.2005T>C
 gnomAD v4
9g.95479115A>TCA374119472PTCH1c.902T>A (p.Met301Lys)
c.1097T>A (p.Met366Lys)
c.647T>A (p.Met216Lys)
c.1100T>A (p.Met367Lys)
c.251T>A (p.Met84Lys)
c.737T>A (p.Met246Lys)
c.260T>A (p.Met87Lys)
n.1288T>A
n.2005T>A
9g.95479116T>ACA374119474PTCH1c.901A>T (p.Met301Leu)
c.1096A>T (p.Met366Leu)
c.646A>T (p.Met216Leu)
c.1099A>T (p.Met367Leu)
c.250A>T (p.Met84Leu)
c.736A>T (p.Met246Leu)
c.259A>T (p.Met87Leu)
n.1287A>T
n.2004A>T
9g.95479116T>CCA5138759PTCH1c.901A>G (p.Met301Val)
c.1096A>G (p.Met366Val)
c.646A>G (p.Met216Val)
c.1099A>G (p.Met367Val)
c.250A>G (p.Met84Val)
c.736A>G (p.Met246Val)
c.259A>G (p.Met87Val)
n.1287A>G
n.2004A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.95479116T>GCA374119475PTCH1c.901A>C (p.Met301Leu)
c.1096A>C (p.Met366Leu)
c.646A>C (p.Met216Leu)
c.1099A>C (p.Met367Leu)
c.250A>C (p.Met84Leu)
c.736A>C (p.Met246Leu)
c.259A>C (p.Met87Leu)
n.1287A>C
n.2004A>C
9g.95479116T=CA1865649794PTCH1c.901A= (p.Met301=)
c.1096A= (p.Met366=)
c.646A= (p.Met216=)
c.1099A= (p.Met367=)
c.250A= (p.Met84=)
c.736A= (p.Met246=)
c.259A= (p.Met87=)
n.1287A=
n.2004A=
9g.95479117T>ACA374119476PTCH1c.900A>T (p.Leu300Phe)
c.1095A>T (p.Leu365Phe)
c.645A>T (p.Leu215Phe)
c.1098A>T (p.Leu366Phe)
c.249A>T (p.Leu83Phe)
c.735A>T (p.Leu245Phe)
c.258A>T (p.Leu86Phe)
n.1286A>T
n.2003A>T
9g.95479117T>CCA466122828PTCH1c.900A>G (p.Leu300=)
c.1095A>G (p.Leu365=)
c.645A>G (p.Leu215=)
c.1098A>G (p.Leu366=)
c.249A>G (p.Leu83=)
c.735A>G (p.Leu245=)
c.258A>G (p.Leu86=)
n.1286A>G
n.2003A>G
 ClinVar dbSNP
9g.95479117T>GCA374119477PTCH1c.900A>C (p.Leu300Phe)
c.1095A>C (p.Leu365Phe)
c.645A>C (p.Leu215Phe)
c.1098A>C (p.Leu366Phe)
c.249A>C (p.Leu83Phe)
c.735A>C (p.Leu245Phe)
c.258A>C (p.Leu86Phe)
n.1286A>C
n.2003A>C
9g.95479118A=CA1865649797PTCH1c.899T= (p.Leu300=)
c.1094T= (p.Leu365=)
c.644T= (p.Leu215=)
c.1097T= (p.Leu366=)
c.248T= (p.Leu83=)
c.734T= (p.Leu245=)
c.257T= (p.Leu86=)
n.1285T=
n.2002T=
9g.95479118A>CCA374119478PTCH1c.899T>G (p.Leu300Ter)
c.1094T>G (p.Leu365Ter)
c.644T>G (p.Leu215Ter)
c.1097T>G (p.Leu366Ter)
c.248T>G (p.Leu83Ter)
c.734T>G (p.Leu245Ter)
c.257T>G (p.Leu86Ter)
n.1285T>G
n.2002T>G
 ClinVar dbSNP
9g.95479118A>GCA374119479PTCH1c.899T>C (p.Leu300Ser)
c.1094T>C (p.Leu365Ser)
c.644T>C (p.Leu215Ser)
c.1097T>C (p.Leu366Ser)
c.248T>C (p.Leu83Ser)
c.734T>C (p.Leu245Ser)
c.257T>C (p.Leu86Ser)
n.1285T>C
n.2002T>C
9g.95479118A>TCA374119480PTCH1c.899T>A (p.Leu300Ter)
c.1094T>A (p.Leu365Ter)
c.644T>A (p.Leu215Ter)
c.1097T>A (p.Leu366Ter)
c.248T>A (p.Leu83Ter)
c.734T>A (p.Leu245Ter)
c.257T>A (p.Leu86Ter)
n.1285T>A
n.2002T>A
9g.95479119delCA2580080868PTCH1c.899del (p.Leu300Ter)
c.1094del (p.Leu365Ter)
c.644del (p.Leu215Ter)
c.1097del (p.Leu366Ter)
c.248del (p.Leu83Ter)
c.734del (p.Leu245Ter)
c.257del (p.Leu86Ter)
n.1285del
n.2002del
 ClinVar
9g.95479119A>CCA374119481PTCH1c.898T>G (p.Leu300Val)
c.1093T>G (p.Leu365Val)
c.643T>G (p.Leu215Val)
c.1096T>G (p.Leu366Val)
c.247T>G (p.Leu83Val)
c.733T>G (p.Leu245Val)
c.256T>G (p.Leu86Val)
n.1284T>G
n.2001T>G
9g.95479119A>GCA466122830PTCH1c.898T>C (p.Leu300=)
c.1093T>C (p.Leu365=)
c.643T>C (p.Leu215=)
c.1096T>C (p.Leu366=)
c.247T>C (p.Leu83=)
c.733T>C (p.Leu245=)
c.256T>C (p.Leu86=)
n.1284T>C
n.2001T>C
9g.95479119A>TCA374119482PTCH1c.898T>A (p.Leu300Ile)
c.1093T>A (p.Leu365Ile)
c.643T>A (p.Leu215Ile)
c.1096T>A (p.Leu366Ile)
c.247T>A (p.Leu83Ile)
c.733T>A (p.Leu245Ile)
c.256T>A (p.Leu86Ile)
n.1284T>A
n.2001T>A
9g.95479120C>ACA374119483PTCH1c.897G>T (p.Gln299His)
c.1092G>T (p.Gln364His)
c.642G>T (p.Gln214His)
c.1095G>T (p.Gln365His)
c.246G>T (p.Gln82His)
c.732G>T (p.Gln244His)
c.255G>T (p.Gln85His)
n.1283G>T
n.2000G>T
9g.95479120C>GCA374119484PTCH1c.897G>C (p.Gln299His)
c.1092G>C (p.Gln364His)
c.642G>C (p.Gln214His)
c.1095G>C (p.Gln365His)
c.246G>C (p.Gln82His)
c.732G>C (p.Gln244His)
c.255G>C (p.Gln85His)
n.1283G>C
n.2000G>C
9g.95479120C>TCA466122831PTCH1c.897G>A (p.Gln299=)
c.1092G>A (p.Gln364=)
c.642G>A (p.Gln214=)
c.1095G>A (p.Gln365=)
c.246G>A (p.Gln82=)
c.732G>A (p.Gln244=)
c.255G>A (p.Gln85=)
n.1283G>A
n.2000G>A
 dbSNP
9g.95479121T>ACA374119486PTCH1c.896A>T (p.Gln299Leu)
c.1091A>T (p.Gln364Leu)
c.641A>T (p.Gln214Leu)
c.1094A>T (p.Gln365Leu)
c.245A>T (p.Gln82Leu)
c.731A>T (p.Gln244Leu)
c.254A>T (p.Gln85Leu)
n.1282A>T
n.1999A>T
9g.95479121T>CCA374119487PTCH1c.896A>G (p.Gln299Arg)
c.1091A>G (p.Gln364Arg)
c.641A>G (p.Gln214Arg)
c.1094A>G (p.Gln365Arg)
c.245A>G (p.Gln82Arg)
c.731A>G (p.Gln244Arg)
c.254A>G (p.Gln85Arg)
n.1282A>G
n.1999A>G
9g.95479121T>GCA374119485PTCH1c.896A>C (p.Gln299Pro)
c.1091A>C (p.Gln364Pro)
c.641A>C (p.Gln214Pro)
c.1094A>C (p.Gln365Pro)
c.245A>C (p.Gln82Pro)
c.731A>C (p.Gln244Pro)
c.254A>C (p.Gln85Pro)
n.1282A>C
n.1999A>C
9g.95479122G>ACA270768PTCH1c.895C>T (p.Gln299Ter)
c.1090C>T (p.Gln364Ter)
c.640C>T (p.Gln214Ter)
c.1093C>T (p.Gln365Ter)
c.244C>T (p.Gln82Ter)
c.730C>T (p.Gln244Ter)
c.253C>T (p.Gln85Ter)
n.1281C>T
n.1998C>T
 ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC
9g.95479122G>CCA5138760PTCH1c.895C>G (p.Gln299Glu)
c.1090C>G (p.Gln364Glu)
c.640C>G (p.Gln214Glu)
c.1093C>G (p.Gln365Glu)
c.244C>G (p.Gln82Glu)
c.730C>G (p.Gln244Glu)
c.253C>G (p.Gln85Glu)
n.1281C>G
n.1998C>G
 dbSNP ExAC gnomAD v3
9g.95479122G=CA1865649800PTCH1c.895C= (p.Gln299=)
c.1090C= (p.Gln364=)
c.640C= (p.Gln214=)
c.1093C= (p.Gln365=)
c.244C= (p.Gln82=)
c.730C= (p.Gln244=)
c.253C= (p.Gln85=)
n.1281C=
n.1998C=
9g.95479122G>TCA374119488PTCH1c.895C>A (p.Gln299Lys)
c.1090C>A (p.Gln364Lys)
c.640C>A (p.Gln214Lys)
c.1093C>A (p.Gln365Lys)
c.244C>A (p.Gln82Lys)
c.730C>A (p.Gln244Lys)
c.253C>A (p.Gln85Lys)
n.1281C>A
n.1998C>A
 gnomAD v4
9g.95479123G>ACA466122832PTCH1c.894C>T (p.Phe298=)
c.1089C>T (p.Phe363=)
c.639C>T (p.Phe213=)
c.1092C>T (p.Phe364=)
c.243C>T (p.Phe81=)
c.729C>T (p.Phe243=)
c.252C>T (p.Phe84=)
n.1280C>T
n.1997C>T
 gnomAD v4
9g.95479123G>CCA374119489PTCH1c.894C>G (p.Phe298Leu)
c.1089C>G (p.Phe363Leu)
c.639C>G (p.Phe213Leu)
c.1092C>G (p.Phe364Leu)
c.243C>G (p.Phe81Leu)
c.729C>G (p.Phe243Leu)
c.252C>G (p.Phe84Leu)
n.1280C>G
n.1997C>G
 ClinVar dbSNP
9g.95479123G>TCA374119490PTCH1c.894C>A (p.Phe298Leu)
c.1089C>A (p.Phe363Leu)
c.639C>A (p.Phe213Leu)
c.1092C>A (p.Phe364Leu)
c.243C>A (p.Phe81Leu)
c.729C>A (p.Phe243Leu)
c.252C>A (p.Phe84Leu)
n.1280C>A
n.1997C>A
9g.95479124A>CCA374119491PTCH1c.893T>G (p.Phe298Cys)
c.1088T>G (p.Phe363Cys)
c.638T>G (p.Phe213Cys)
c.1091T>G (p.Phe364Cys)
c.242T>G (p.Phe81Cys)
c.728T>G (p.Phe243Cys)
c.251T>G (p.Phe84Cys)
n.1279T>G
n.1996T>G
9g.95479124A>GCA374119493PTCH1c.893T>C (p.Phe298Ser)
c.1088T>C (p.Phe363Ser)
c.638T>C (p.Phe213Ser)
c.1091T>C (p.Phe364Ser)
c.242T>C (p.Phe81Ser)
c.728T>C (p.Phe243Ser)
c.251T>C (p.Phe84Ser)
n.1279T>C
n.1996T>C
9g.95479124A>TCA374119492PTCH1c.893T>A (p.Phe298Tyr)
c.1088T>A (p.Phe363Tyr)
c.638T>A (p.Phe213Tyr)
c.1091T>A (p.Phe364Tyr)
c.242T>A (p.Phe81Tyr)
c.728T>A (p.Phe243Tyr)
c.251T>A (p.Phe84Tyr)
n.1279T>A
n.1996T>A
9g.95479125A>CCA374119494PTCH1c.892T>G (p.Phe298Val)
c.1087T>G (p.Phe363Val)
c.637T>G (p.Phe213Val)
c.1090T>G (p.Phe364Val)
c.241T>G (p.Phe81Val)
c.727T>G (p.Phe243Val)
c.250T>G (p.Phe84Val)
n.1278T>G
n.1995T>G
9g.95479125A>GCA374119495PTCH1c.892T>C (p.Phe298Leu)
c.1087T>C (p.Phe363Leu)
c.637T>C (p.Phe213Leu)
c.1090T>C (p.Phe364Leu)
c.241T>C (p.Phe81Leu)
c.727T>C (p.Phe243Leu)
c.250T>C (p.Phe84Leu)
n.1278T>C
n.1995T>C
9g.95479125A>TCA374119496PTCH1c.892T>A (p.Phe298Ile)
c.1087T>A (p.Phe363Ile)
c.637T>A (p.Phe213Ile)
c.1090T>A (p.Phe364Ile)
c.241T>A (p.Phe81Ile)
c.727T>A (p.Phe243Ile)
c.250T>A (p.Phe84Ile)
n.1278T>A
n.1995T>A
9g.95479126C>ACA374119497PTCH1c.891G>T (p.Met297Ile)
c.1086G>T (p.Met362Ile)
c.636G>T (p.Met212Ile)
c.1089G>T (p.Met363Ile)
c.240G>T (p.Met80Ile)
c.726G>T (p.Met242Ile)
c.249G>T (p.Met83Ile)
n.1277G>T
n.1994G>T
 gnomAD v4
9g.95479126C=CA1865649806PTCH1c.891G= (p.Met297=)
c.1086G= (p.Met362=)
c.636G= (p.Met212=)
c.1089G= (p.Met363=)
c.240G= (p.Met80=)
c.726G= (p.Met242=)
c.249G= (p.Met83=)
n.1277G=
n.1994G=
9g.95479126C>GCA374119498PTCH1c.891G>C (p.Met297Ile)
c.1086G>C (p.Met362Ile)
c.636G>C (p.Met212Ile)
c.1089G>C (p.Met363Ile)
c.240G>C (p.Met80Ile)
c.726G>C (p.Met242Ile)
c.249G>C (p.Met83Ile)
n.1277G>C
n.1994G>C
9g.95479126C>TCA374119499PTCH1c.891G>A (p.Met297Ile)
c.1086G>A (p.Met362Ile)
c.636G>A (p.Met212Ile)
c.1089G>A (p.Met363Ile)
c.240G>A (p.Met80Ile)
c.726G>A (p.Met242Ile)
c.249G>A (p.Met83Ile)
n.1277G>A
n.1994G>A
 ClinVar dbSNP gnomAD v4
9g.95479127A>CCA374119500PTCH1c.890T>G (p.Met297Arg)
c.1085T>G (p.Met362Arg)
c.635T>G (p.Met212Arg)
c.1088T>G (p.Met363Arg)
c.239T>G (p.Met80Arg)
c.725T>G (p.Met242Arg)
c.248T>G (p.Met83Arg)
n.1276T>G
n.1993T>G
9g.95479127A>GCA374119501PTCH1c.890T>C (p.Met297Thr)
c.1085T>C (p.Met362Thr)
c.635T>C (p.Met212Thr)
c.1088T>C (p.Met363Thr)
c.239T>C (p.Met80Thr)
c.725T>C (p.Met242Thr)
c.248T>C (p.Met83Thr)
n.1276T>C
n.1993T>C
 ClinVar gnomAD v4
9g.95479127A>TCA374119502PTCH1c.890T>A (p.Met297Lys)
c.1085T>A (p.Met362Lys)
c.635T>A (p.Met212Lys)
c.1088T>A (p.Met363Lys)
c.239T>A (p.Met80Lys)
c.725T>A (p.Met242Lys)
c.248T>A (p.Met83Lys)
n.1276T>A
n.1993T>A
9g.95479128T>ACA374119503PTCH1c.889A>T (p.Met297Leu)
c.1084A>T (p.Met362Leu)
c.634A>T (p.Met212Leu)
c.1087A>T (p.Met363Leu)
c.238A>T (p.Met80Leu)
c.724A>T (p.Met242Leu)
c.247A>T (p.Met83Leu)
n.1275A>T
n.1992A>T
9g.95479128T>CCA374119504PTCH1c.889A>G (p.Met297Val)
c.1084A>G (p.Met362Val)
c.634A>G (p.Met212Val)
c.1087A>G (p.Met363Val)
c.238A>G (p.Met80Val)
c.724A>G (p.Met242Val)
c.247A>G (p.Met83Val)
n.1275A>G
n.1992A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.95479128T>GCA374119505PTCH1c.889A>C (p.Met297Leu)
c.1084A>C (p.Met362Leu)
c.634A>C (p.Met212Leu)
c.1087A>C (p.Met363Leu)
c.238A>C (p.Met80Leu)
c.724A>C (p.Met242Leu)
c.247A>C (p.Met83Leu)
n.1275A>C
n.1992A>C
 ClinVar
9g.95479128T=CA1865649816PTCH1c.889A= (p.Met297=)
c.1084A= (p.Met362=)
c.634A= (p.Met212=)
c.1087A= (p.Met363=)
c.238A= (p.Met80=)
c.724A= (p.Met242=)
c.247A= (p.Met83=)
n.1275A=
n.1992A=
9g.95479129G>ACA5138761PTCH1c.888C>T (p.Thr296=)
c.1083C>T (p.Thr361=)
c.633C>T (p.Thr211=)
c.1086C>T (p.Thr362=)
c.237C>T (p.Thr79=)
c.723C>T (p.Thr241=)
c.246C>T (p.Thr82=)
n.1274C>T
n.1991C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95479129G>CCA466122834PTCH1c.888C>G (p.Thr296=)
c.1083C>G (p.Thr361=)
c.633C>G (p.Thr211=)
c.1086C>G (p.Thr362=)
c.237C>G (p.Thr79=)
c.723C>G (p.Thr241=)
c.246C>G (p.Thr82=)
n.1274C>G
n.1991C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.95479129G=CA1865649832PTCH1c.888C= (p.Thr296=)
c.1083C= (p.Thr361=)
c.633C= (p.Thr211=)
c.1086C= (p.Thr362=)
c.237C= (p.Thr79=)
c.723C= (p.Thr241=)
c.246C= (p.Thr82=)
n.1274C=
n.1991C=
9g.95479129G>TCA466122835PTCH1c.888C>A (p.Thr296=)
c.1083C>A (p.Thr361=)
c.633C>A (p.Thr211=)
c.1086C>A (p.Thr362=)
c.237C>A (p.Thr79=)
c.723C>A (p.Thr241=)
c.246C>A (p.Thr82=)
n.1274C>A
n.1991C>A
9g.95479130dupCA16618910PTCH1c.888dup (p.Met297HisfsTer?)
c.1083dup (p.Met362HisfsTer?)
c.633dup (p.Met212HisfsTer?)
c.1086dup (p.Met363HisfsTer?)
c.237dup (p.Met80HisfsTer?)
c.723dup (p.Met242HisfsTer?)
c.246dup (p.Met83HisfsTer?)
n.1274dup
n.1991dup
 ClinVar dbSNP
9g.95479130G>ACA374119508PTCH1c.887C>T (p.Thr296Ile)
c.1082C>T (p.Thr361Ile)
c.632C>T (p.Thr211Ile)
c.1085C>T (p.Thr362Ile)
c.236C>T (p.Thr79Ile)
c.722C>T (p.Thr241Ile)
c.245C>T (p.Thr82Ile)
n.1273C>T
n.1990C>T
 COSMIC
9g.95479130G>CCA374119506PTCH1c.887C>G (p.Thr296Ser)
c.1082C>G (p.Thr361Ser)
c.632C>G (p.Thr211Ser)
c.1085C>G (p.Thr362Ser)
c.236C>G (p.Thr79Ser)
c.722C>G (p.Thr241Ser)
c.245C>G (p.Thr82Ser)
n.1273C>G
n.1990C>G
 ClinVar dbSNP
9g.95479130G>TCA374119507PTCH1c.887C>A (p.Thr296Asn)
c.1082C>A (p.Thr361Asn)
c.632C>A (p.Thr211Asn)
c.1085C>A (p.Thr362Asn)
c.236C>A (p.Thr79Asn)
c.722C>A (p.Thr241Asn)
c.245C>A (p.Thr82Asn)
n.1273C>A
n.1990C>A
 COSMIC COSMIC COSMIC COSMIC
9g.95479131T>ACA374119509PTCH1c.886A>T (p.Thr296Ser)
c.1081A>T (p.Thr361Ser)
c.631A>T (p.Thr211Ser)
c.1084A>T (p.Thr362Ser)
c.235A>T (p.Thr79Ser)
c.721A>T (p.Thr241Ser)
c.244A>T (p.Thr82Ser)
n.1272A>T
n.1989A>T
9g.95479131T>CCA374119510PTCH1c.886A>G (p.Thr296Ala)
c.1081A>G (p.Thr361Ala)
c.631A>G (p.Thr211Ala)
c.1084A>G (p.Thr362Ala)
c.235A>G (p.Thr79Ala)
c.721A>G (p.Thr241Ala)
c.244A>G (p.Thr82Ala)
n.1272A>G
n.1989A>G
9g.95479131T>GCA374119511PTCH1c.886A>C (p.Thr296Pro)
c.1081A>C (p.Thr361Pro)
c.631A>C (p.Thr211Pro)
c.1084A>C (p.Thr362Pro)
c.235A>C (p.Thr79Pro)
c.721A>C (p.Thr241Pro)
c.244A>C (p.Thr82Pro)
n.1272A>C
n.1989A>C
9g.95479132C>ACA374119512PTCH1c.885G>T (p.Gln295His)
c.1080G>T (p.Gln360His)
c.630G>T (p.Gln210His)
c.1083G>T (p.Gln361His)
c.234G>T (p.Gln78His)
c.720G>T (p.Gln240His)
c.243G>T (p.Gln81His)
n.1271G>T
n.1988G>T
9g.95479132C=CA1865649841PTCH1c.885G= (p.Gln295=)
c.1080G= (p.Gln360=)
c.630G= (p.Gln210=)
c.1083G= (p.Gln361=)
c.234G= (p.Gln78=)
c.720G= (p.Gln240=)
c.243G= (p.Gln81=)
n.1271G=
n.1988G=
9g.95479132C>GCA374119513PTCH1c.885G>C (p.Gln295His)
c.1080G>C (p.Gln360His)
c.630G>C (p.Gln210His)
c.1083G>C (p.Gln361His)
c.234G>C (p.Gln78His)
c.720G>C (p.Gln240His)
c.243G>C (p.Gln81His)
n.1271G>C
n.1988G>C
9g.95479132C>TCA466122836PTCH1c.885G>A (p.Gln295=)
c.1080G>A (p.Gln360=)
c.630G>A (p.Gln210=)
c.1083G>A (p.Gln361=)
c.234G>A (p.Gln78=)
c.720G>A (p.Gln240=)
c.243G>A (p.Gln81=)
n.1271G>A
n.1988G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.95479133T>ACA374119514PTCH1c.884A>T (p.Gln295Leu)
c.1079A>T (p.Gln360Leu)
c.629A>T (p.Gln210Leu)
c.1082A>T (p.Gln361Leu)
c.233A>T (p.Gln78Leu)
c.719A>T (p.Gln240Leu)
c.242A>T (p.Gln81Leu)
n.1270A>T
n.1987A>T
9g.95479133T>CCA374119515PTCH1c.884A>G (p.Gln295Arg)
c.1079A>G (p.Gln360Arg)
c.629A>G (p.Gln210Arg)
c.1082A>G (p.Gln361Arg)
c.233A>G (p.Gln78Arg)
c.719A>G (p.Gln240Arg)
c.242A>G (p.Gln81Arg)
n.1270A>G
n.1987A>G
9g.95479133T>GCA374119516PTCH1c.884A>C (p.Gln295Pro)
c.1079A>C (p.Gln360Pro)
c.629A>C (p.Gln210Pro)
c.1082A>C (p.Gln361Pro)
c.233A>C (p.Gln78Pro)
c.719A>C (p.Gln240Pro)
c.242A>C (p.Gln81Pro)
n.1270A>C
n.1987A>C
 COSMIC
9g.95479134G>ACA254337PTCH1c.883C>T (p.Gln295Ter)
c.1078C>T (p.Gln360Ter)
c.628C>T (p.Gln210Ter)
c.1081C>T (p.Gln361Ter)
c.232C>T (p.Gln78Ter)
c.718C>T (p.Gln240Ter)
c.241C>T (p.Gln81Ter)
n.1269C>T
n.1986C>T
 ClinVar dbSNP COSMIC
9g.95479134G>CCA374119517PTCH1c.883C>G (p.Gln295Glu)
c.1078C>G (p.Gln360Glu)
c.628C>G (p.Gln210Glu)
c.1081C>G (p.Gln361Glu)
c.232C>G (p.Gln78Glu)
c.718C>G (p.Gln240Glu)
c.241C>G (p.Gln81Glu)
n.1269C>G
n.1986C>G
9g.95479134G=CA1865649851PTCH1c.883C= (p.Gln295=)
c.1078C= (p.Gln360=)
c.628C= (p.Gln210=)
c.1081C= (p.Gln361=)
c.232C= (p.Gln78=)
c.718C= (p.Gln240=)
c.241C= (p.Gln81=)
n.1269C=
n.1986C=
9g.95479134G>TCA374119518PTCH1c.883C>A (p.Gln295Lys)
c.1078C>A (p.Gln360Lys)
c.628C>A (p.Gln210Lys)
c.1081C>A (p.Gln361Lys)
c.232C>A (p.Gln78Lys)
c.718C>A (p.Gln240Lys)
c.241C>A (p.Gln81Lys)
n.1269C>A
n.1986C>A
9g.95479135C>ACA466122837PTCH1c.882G>T (p.Leu294=)
c.1077G>T (p.Leu359=)
c.627G>T (p.Leu209=)
c.1080G>T (p.Leu360=)
c.231G>T (p.Leu77=)
c.717G>T (p.Leu239=)
c.240G>T (p.Leu80=)
n.1268G>T
n.1985G>T
 dbSNP gnomAD v4
9g.95479135C=CA1865649860PTCH1c.882G= (p.Leu294=)
c.1077G= (p.Leu359=)
c.627G= (p.Leu209=)
c.1080G= (p.Leu360=)
c.231G= (p.Leu77=)
c.717G= (p.Leu239=)
c.240G= (p.Leu80=)
n.1268G=
n.1985G=
9g.95479135C>GCA466122838PTCH1c.882G>C (p.Leu294=)
c.1077G>C (p.Leu359=)
c.627G>C (p.Leu209=)
c.1080G>C (p.Leu360=)
c.231G>C (p.Leu77=)
c.717G>C (p.Leu239=)
c.240G>C (p.Leu80=)
n.1268G>C
n.1985G>C
9g.95479135C>TCA5138762PTCH1c.882G>A (p.Leu294=)
c.1077G>A (p.Leu359=)
c.627G>A (p.Leu209=)
c.1080G>A (p.Leu360=)
c.231G>A (p.Leu77=)
c.717G>A (p.Leu239=)
c.240G>A (p.Leu80=)
n.1268G>A
n.1985G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95479136A>CCA374119519PTCH1c.881T>G (p.Leu294Arg)
c.1076T>G (p.Leu359Arg)
c.626T>G (p.Leu209Arg)
c.1079T>G (p.Leu360Arg)
c.230T>G (p.Leu77Arg)
c.716T>G (p.Leu239Arg)
c.239T>G (p.Leu80Arg)
n.1267T>G
n.1984T>G
9g.95479136A>GCA374119521PTCH1c.881T>C (p.Leu294Pro)
c.1076T>C (p.Leu359Pro)
c.626T>C (p.Leu209Pro)
c.1079T>C (p.Leu360Pro)
c.230T>C (p.Leu77Pro)
c.716T>C (p.Leu239Pro)
c.239T>C (p.Leu80Pro)
n.1267T>C
n.1984T>C
 ClinVar dbSNP
9g.95479136A>TCA374119520PTCH1c.881T>A (p.Leu294Gln)
c.1076T>A (p.Leu359Gln)
c.626T>A (p.Leu209Gln)
c.1079T>A (p.Leu360Gln)
c.230T>A (p.Leu77Gln)
c.716T>A (p.Leu239Gln)
c.239T>A (p.Leu80Gln)
n.1267T>A
n.1984T>A
9g.95479136_95479139dupCA2695210939PTCH1c.878_881dup (p.Gln295ProfsTer?)
c.1073_1076dup (p.Gln360ProfsTer?)
c.623_626dup (p.Gln210ProfsTer?)
c.1076_1079dup (p.Gln361ProfsTer?)
c.227_230dup (p.Gln78ProfsTer?)
c.713_716dup (p.Gln240ProfsTer?)
c.236_239dup (p.Gln81ProfsTer?)
n.1264_1267dup
n.1981_1984dup
9g.95479137G>ACA466122839PTCH1c.880C>T (p.Leu294=)
c.1075C>T (p.Leu359=)
c.625C>T (p.Leu209=)
c.1078C>T (p.Leu360=)
c.229C>T (p.Leu77=)
c.715C>T (p.Leu239=)
c.238C>T (p.Leu80=)
n.1266C>T
n.1983C>T
 ClinVar dbSNP
9g.95479137G>CCA374119522PTCH1c.880C>G (p.Leu294Val)
c.1075C>G (p.Leu359Val)
c.625C>G (p.Leu209Val)
c.1078C>G (p.Leu360Val)
c.229C>G (p.Leu77Val)
c.715C>G (p.Leu239Val)
c.238C>G (p.Leu80Val)
n.1266C>G
n.1983C>G
 gnomAD v4
9g.95479137G>TCA374119523PTCH1c.880C>A (p.Leu294Met)
c.1075C>A (p.Leu359Met)
c.625C>A (p.Leu209Met)
c.1078C>A (p.Leu360Met)
c.229C>A (p.Leu77Met)
c.715C>A (p.Leu239Met)
c.238C>A (p.Leu80Met)
n.1266C>A
n.1983C>A
9g.95479138G>ACA466122840PTCH1c.879C>T (p.Ala293=)
c.1074C>T (p.Ala358=)
c.624C>T (p.Ala208=)
c.1077C>T (p.Ala359=)
c.228C>T (p.Ala76=)
c.714C>T (p.Ala238=)
c.237C>T (p.Ala79=)
n.1265C>T
n.1982C>T
9g.95479138G>CCA466122841PTCH1c.879C>G (p.Ala293=)
c.1074C>G (p.Ala358=)
c.624C>G (p.Ala208=)
c.1077C>G (p.Ala359=)
c.228C>G (p.Ala76=)
c.714C>G (p.Ala238=)
c.237C>G (p.Ala79=)
n.1265C>G
n.1982C>G
 ClinVar
9g.95479138G>TCA466122842PTCH1c.879C>A (p.Ala293=)
c.1074C>A (p.Ala358=)
c.624C>A (p.Ala208=)
c.1077C>A (p.Ala359=)
c.228C>A (p.Ala76=)
c.714C>A (p.Ala238=)
c.237C>A (p.Ala79=)
n.1265C>A
n.1982C>A

Number of alleles fetched