Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.95453502_95453517delinsCCCGCCAGCATCAGCACA1865583689PTCH1c.3212_3227delinsTGCTGATGCTGGCGGG (p.Val1071=)
c.3407_3422delinsTGCTGATGCTGGCGGG (p.Val1136=)
c.*1718_*1733delinsTGCTGATGCTGGCGGG (n.*1718_*1733delinsTGCTGATGCTGGCGGG)
c.2957_2972delinsTGCTGATGCTGGCGGG (p.Val986=)
n.741_756delinsTGCTGATGCTGGCGGG
c.3410_3425delinsTGCTGATGCTGGCGGG (p.Val1137=)
c.3179_3194delinsTGCTGATGCTGGCGGG (n.3179_3194delinsTGCTGATGCTGGCGGG)
c.3254_3269delinsTGCTGATGCTGGCGGG (p.Val1085=)
c.2570_2585delinsTGCTGATGCTGGCGGG (p.Val857=)
n.3432_3447delinsTGCTGATGCTGGCGGG
n.4149_4164delinsTGCTGATGCTGGCGGG
9g.95453504_95453518delCA645369447PTCH1c.3212_3226del (p.Val1071_Ala1075del)
c.3407_3421del (p.Val1136_Ala1140del)
c.*1718_*1732del (n.*1718_*1732del)
c.2957_2971del (p.Val986_Ala990del)
n.741_755del
c.3410_3424del (p.Val1137_Ala1141del)
c.3179_3193del (n.3179_3193del)
c.3254_3268del (p.Val1085_Ala1089del)
c.2570_2584del (p.Val857_Ala861del)
n.3432_3446del
n.4149_4163del
 ClinVar dbSNP
9g.95453512T>ACA374111721PTCH1c.3217A>T (p.Met1073Leu)
c.3412A>T (p.Met1138Leu)
c.*1723A>T (n.*1723A>T)
c.2962A>T (p.Met988Leu)
n.746A>T
c.3415A>T (p.Met1139Leu)
c.3184A>T (n.3184A>T)
c.3259A>T (p.Met1087Leu)
c.2575A>T (p.Met859Leu)
n.3437A>T
n.4154A>T
 gnomAD v4
9g.95453512T>CCA374111722PTCH1c.3217A>G (p.Met1073Val)
c.3412A>G (p.Met1138Val)
c.*1723A>G (n.*1723A>G)
c.2962A>G (p.Met988Val)
n.746A>G
c.3415A>G (p.Met1139Val)
c.3184A>G (n.3184A>G)
c.3259A>G (p.Met1087Val)
c.2575A>G (p.Met859Val)
n.3437A>G
n.4154A>G
9g.95453512T>GCA374111720PTCH1c.3217A>C (p.Met1073Leu)
c.3412A>C (p.Met1138Leu)
c.*1723A>C (n.*1723A>C)
c.2962A>C (p.Met988Leu)
n.746A>C
c.3415A>C (p.Met1139Leu)
c.3184A>C (n.3184A>C)
c.3259A>C (p.Met1087Leu)
c.2575A>C (p.Met859Leu)
n.3437A>C
n.4154A>C
 ClinVar
9g.95453513C>ACA466107639PTCH1c.3216G>T (p.Leu1072=)
c.3411G>T (p.Leu1137=)
c.*1722G>T (n.*1722G>T)
c.2961G>T (p.Leu987=)
n.745G>T
c.3414G>T (p.Leu1138=)
c.3183G>T (n.3183G>T)
c.3258G>T (p.Leu1086=)
c.2574G>T (p.Leu858=)
n.3436G>T
n.4153G>T
9g.95453513C=CA1865583736PTCH1c.3216G= (p.Leu1072=)
c.3411G= (p.Leu1137=)
c.*1722G= (n.*1722G=)
c.2961G= (p.Leu987=)
n.745G=
c.3414G= (p.Leu1138=)
c.3183G= (n.3183G=)
c.3258G= (p.Leu1086=)
c.2574G= (p.Leu858=)
n.3436G=
n.4153G=
9g.95453513C>GCA466107642PTCH1c.3216G>C (p.Leu1072=)
c.3411G>C (p.Leu1137=)
c.*1722G>C (n.*1722G>C)
c.2961G>C (p.Leu987=)
n.745G>C
c.3414G>C (p.Leu1138=)
c.3183G>C (n.3183G>C)
c.3258G>C (p.Leu1086=)
c.2574G>C (p.Leu858=)
n.3436G>C
n.4153G>C
 dbSNP gnomAD v2
9g.95453513C>TCA466107644PTCH1c.3216G>A (p.Leu1072=)
c.3411G>A (p.Leu1137=)
c.*1722G>A (n.*1722G>A)
c.2961G>A (p.Leu987=)
n.745G>A
c.3414G>A (p.Leu1138=)
c.3183G>A (n.3183G>A)
c.3258G>A (p.Leu1086=)
c.2574G>A (p.Leu858=)
n.3436G>A
n.4153G>A
9g.95453514A>CCA374111723PTCH1c.3215T>G (p.Leu1072Arg)
c.3410T>G (p.Leu1137Arg)
c.*1721T>G (n.*1721T>G)
c.2960T>G (p.Leu987Arg)
n.744T>G
c.3413T>G (p.Leu1138Arg)
c.3182T>G (n.3182T>G)
c.3257T>G (p.Leu1086Arg)
c.2573T>G (p.Leu858Arg)
n.3435T>G
n.4152T>G
9g.95453514A>GCA374111724PTCH1c.3215T>C (p.Leu1072Pro)
c.3410T>C (p.Leu1137Pro)
c.*1721T>C (n.*1721T>C)
c.2960T>C (p.Leu987Pro)
n.744T>C
c.3413T>C (p.Leu1138Pro)
c.3182T>C (n.3182T>C)
c.3257T>C (p.Leu1086Pro)
c.2573T>C (p.Leu858Pro)
n.3435T>C
n.4152T>C
 ClinVar
9g.95453514A>TCA374111725PTCH1c.3215T>A (p.Leu1072Gln)
c.3410T>A (p.Leu1137Gln)
c.*1721T>A (n.*1721T>A)
c.2960T>A (p.Leu987Gln)
n.744T>A
c.3413T>A (p.Leu1138Gln)
c.3182T>A (n.3182T>A)
c.3257T>A (p.Leu1086Gln)
c.2573T>A (p.Leu858Gln)
n.3435T>A
n.4152T>A
9g.95453515G>ACA466107649PTCH1c.3214C>T (p.Leu1072=)
c.3409C>T (p.Leu1137=)
c.*1720C>T (n.*1720C>T)
c.2959C>T (p.Leu987=)
n.743C>T
c.3412C>T (p.Leu1138=)
c.3181C>T (n.3181C>T)
c.3256C>T (p.Leu1086=)
c.2572C>T (p.Leu858=)
n.3434C>T
n.4151C>T
 ClinVar dbSNP
9g.95453515G>CCA374111726PTCH1c.3214C>G (p.Leu1072Val)
c.3409C>G (p.Leu1137Val)
c.*1720C>G (n.*1720C>G)
c.2959C>G (p.Leu987Val)
n.743C>G
c.3412C>G (p.Leu1138Val)
c.3181C>G (n.3181C>G)
c.3256C>G (p.Leu1086Val)
c.2572C>G (p.Leu858Val)
n.3434C>G
n.4151C>G
 ClinVar dbSNP
9g.95453515G=CA1865583740PTCH1c.3214C= (p.Leu1072=)
c.3409C= (p.Leu1137=)
c.*1720C= (n.*1720C=)
c.2959C= (p.Leu987=)
n.743C=
c.3412C= (p.Leu1138=)
c.3181C= (n.3181C=)
c.3256C= (p.Leu1086=)
c.2572C= (p.Leu858=)
n.3434C=
n.4151C=
9g.95453515G>TCA374111727PTCH1c.3214C>A (p.Leu1072Met)
c.3409C>A (p.Leu1137Met)
c.*1720C>A (n.*1720C>A)
c.2959C>A (p.Leu987Met)
n.743C>A
c.3412C>A (p.Leu1138Met)
c.3181C>A (n.3181C>A)
c.3256C>A (p.Leu1086Met)
c.2572C>A (p.Leu858Met)
n.3434C>A
n.4151C>A
9g.95453516C>ACA466107655PTCH1c.3213G>T (p.Val1071=)
c.3408G>T (p.Val1136=)
c.*1719G>T (n.*1719G>T)
c.2958G>T (p.Val986=)
n.742G>T
c.3411G>T (p.Val1137=)
c.3180G>T (n.3180G>T)
c.3255G>T (p.Val1085=)
c.2571G>T (p.Val857=)
n.3433G>T
n.4150G>T
9g.95453516C>GCA466107656PTCH1c.3213G>C (p.Val1071=)
c.3408G>C (p.Val1136=)
c.*1719G>C (n.*1719G>C)
c.2958G>C (p.Val986=)
n.742G>C
c.3411G>C (p.Val1137=)
c.3180G>C (n.3180G>C)
c.3255G>C (p.Val1085=)
c.2571G>C (p.Val857=)
n.3433G>C
n.4150G>C
9g.95453516C>TCA466107657PTCH1c.3213G>A (p.Val1071=)
c.3408G>A (p.Val1136=)
c.*1719G>A (n.*1719G>A)
c.2958G>A (p.Val986=)
n.742G>A
c.3411G>A (p.Val1137=)
c.3180G>A (n.3180G>A)
c.3255G>A (p.Val1085=)
c.2571G>A (p.Val857=)
n.3433G>A
n.4150G>A
 dbSNP
9g.95453517A>CCA374111728PTCH1c.3212T>G (p.Val1071Gly)
c.3407T>G (p.Val1136Gly)
c.*1718T>G (n.*1718T>G)
c.2957T>G (p.Val986Gly)
n.741T>G
c.3410T>G (p.Val1137Gly)
c.3179T>G (n.3179T>G)
c.3254T>G (p.Val1085Gly)
c.2570T>G (p.Val857Gly)
n.3432T>G
n.4149T>G
9g.95453517A>GCA374111729PTCH1c.3212T>C (p.Val1071Ala)
c.3407T>C (p.Val1136Ala)
c.*1718T>C (n.*1718T>C)
c.2957T>C (p.Val986Ala)
n.741T>C
c.3410T>C (p.Val1137Ala)
c.3179T>C (n.3179T>C)
c.3254T>C (p.Val1085Ala)
c.2570T>C (p.Val857Ala)
n.3432T>C
n.4149T>C
9g.95453517A>TCA374111730PTCH1c.3212T>A (p.Val1071Glu)
c.3407T>A (p.Val1136Glu)
c.*1718T>A (n.*1718T>A)
c.2957T>A (p.Val986Glu)
n.741T>A
c.3410T>A (p.Val1137Glu)
c.3179T>A (n.3179T>A)
c.3254T>A (p.Val1085Glu)
c.2570T>A (p.Val857Glu)
n.3432T>A
n.4149T>A
9g.95453518C>ACA374111731PTCH1c.3211G>T (p.Val1071Leu)
c.3406G>T (p.Val1136Leu)
c.*1717G>T (n.*1717G>T)
c.2956G>T (p.Val986Leu)
n.740G>T
c.3409G>T (p.Val1137Leu)
c.3178G>T (n.3178G>T)
c.3253G>T (p.Val1085Leu)
c.2569G>T (p.Val857Leu)
n.3431G>T
n.4148G>T
9g.95453518C>GCA374111732PTCH1c.3211G>C (p.Val1071Leu)
c.3406G>C (p.Val1136Leu)
c.*1717G>C (n.*1717G>C)
c.2956G>C (p.Val986Leu)
n.740G>C
c.3409G>C (p.Val1137Leu)
c.3178G>C (n.3178G>C)
c.3253G>C (p.Val1085Leu)
c.2569G>C (p.Val857Leu)
n.3431G>C
n.4148G>C
9g.95453518C>TCA374111733PTCH1c.3211G>A (p.Val1071Met)
c.3406G>A (p.Val1136Met)
c.*1717G>A (n.*1717G>A)
c.2956G>A (p.Val986Met)
n.740G>A
c.3409G>A (p.Val1137Met)
c.3178G>A (n.3178G>A)
c.3253G>A (p.Val1085Met)
c.2569G>A (p.Val857Met)
n.3431G>A
n.4148G>A
 dbSNP gnomAD v4
9g.95453519T>ACA466107671PTCH1c.3210A>T (p.Gly1070=)
c.3405A>T (p.Gly1135=)
c.*1716A>T (n.*1716A>T)
c.2955A>T (p.Gly985=)
n.739A>T
c.3408A>T (p.Gly1136=)
c.3177A>T (n.3177A>T)
c.3252A>T (p.Gly1084=)
c.2568A>T (p.Gly856=)
n.3430A>T
n.4147A>T
9g.95453519T>CCA5138158PTCH1c.3210A>G (p.Gly1070=)
c.3405A>G (p.Gly1135=)
c.*1716A>G (n.*1716A>G)
c.2955A>G (p.Gly985=)
n.739A>G
c.3408A>G (p.Gly1136=)
c.3177A>G (n.3177A>G)
c.3252A>G (p.Gly1084=)
c.2568A>G (p.Gly856=)
n.3430A>G
n.4147A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.95453519T>GCA466107667PTCH1c.3210A>C (p.Gly1070=)
c.3405A>C (p.Gly1135=)
c.*1716A>C (n.*1716A>C)
c.2955A>C (p.Gly985=)
n.739A>C
c.3408A>C (p.Gly1136=)
c.3177A>C (n.3177A>C)
c.3252A>C (p.Gly1084=)
c.2568A>C (p.Gly856=)
n.3430A>C
n.4147A>C
 ClinVar
9g.95453519T=CA1865583743PTCH1c.3210A= (p.Gly1070=)
c.3405A= (p.Gly1135=)
c.*1716A= (n.*1716A=)
c.2955A= (p.Gly985=)
n.739A=
c.3408A= (p.Gly1136=)
c.3177A= (n.3177A=)
c.3252A= (p.Gly1084=)
c.2568A= (p.Gly856=)
n.3430A=
n.4147A=
9g.95453520C>ACA374111735PTCH1c.3209G>T (p.Gly1070Val)
c.3404G>T (p.Gly1135Val)
c.*1715G>T (n.*1715G>T)
c.2954G>T (p.Gly985Val)
n.738G>T
c.3407G>T (p.Gly1136Val)
c.3176G>T (n.3176G>T)
c.3251G>T (p.Gly1084Val)
c.2567G>T (p.Gly856Val)
n.3429G>T
n.4146G>T
 dbSNP
9g.95453520C>GCA374111736PTCH1c.3209G>C (p.Gly1070Ala)
c.3404G>C (p.Gly1135Ala)
c.*1715G>C (n.*1715G>C)
c.2954G>C (p.Gly985Ala)
n.738G>C
c.3407G>C (p.Gly1136Ala)
c.3176G>C (n.3176G>C)
c.3251G>C (p.Gly1084Ala)
c.2567G>C (p.Gly856Ala)
n.3429G>C
n.4146G>C
9g.95453520C>TCA374111734PTCH1c.3209G>A (p.Gly1070Glu)
c.3404G>A (p.Gly1135Glu)
c.*1715G>A (n.*1715G>A)
c.2954G>A (p.Gly985Glu)
n.738G>A
c.3407G>A (p.Gly1136Glu)
c.3176G>A (n.3176G>A)
c.3251G>A (p.Gly1084Glu)
c.2567G>A (p.Gly856Glu)
n.3429G>A
n.4146G>A
 dbSNP
9g.95453521C>ACA374111737PTCH1c.3208G>T (p.Gly1070Ter)
c.3403G>T (p.Gly1135Ter)
c.*1714G>T (n.*1714G>T)
c.2953G>T (p.Gly985Ter)
n.737G>T
c.3406G>T (p.Gly1136Ter)
c.3175G>T (n.3175G>T)
c.3250G>T (p.Gly1084Ter)
c.2566G>T (p.Gly856Ter)
n.3428G>T
n.4145G>T
9g.95453521C=CA1865583751PTCH1c.3208G= (p.Gly1070=)
c.3403G= (p.Gly1135=)
c.*1714G= (n.*1714G=)
c.2953G= (p.Gly985=)
n.737G=
c.3406G= (p.Gly1136=)
c.3175G= (n.3175G=)
c.3250G= (p.Gly1084=)
c.2566G= (p.Gly856=)
n.3428G=
n.4145G=
9g.95453521C>GCA374111738PTCH1c.3208G>C (p.Gly1070Arg)
c.3403G>C (p.Gly1135Arg)
c.*1714G>C (n.*1714G>C)
c.2953G>C (p.Gly985Arg)
n.737G>C
c.3406G>C (p.Gly1136Arg)
c.3175G>C (n.3175G>C)
c.3250G>C (p.Gly1084Arg)
c.2566G>C (p.Gly856Arg)
n.3428G>C
n.4145G>C
 ClinVar dbSNP
9g.95453521C>TCA374111739PTCH1c.3208G>A (p.Gly1070Arg)
c.3403G>A (p.Gly1135Arg)
c.*1714G>A (n.*1714G>A)
c.2953G>A (p.Gly985Arg)
n.737G>A
c.3406G>A (p.Gly1136Arg)
c.3175G>A (n.3175G>A)
c.3250G>A (p.Gly1084Arg)
c.2566G>A (p.Gly856Arg)
n.3428G>A
n.4145G>A
 ClinVar dbSNP
9g.95453522C>ACA466107681PTCH1c.3207G>T (p.Leu1069=)
c.3402G>T (p.Leu1134=)
c.*1713G>T (n.*1713G>T)
c.2952G>T (p.Leu984=)
n.736G>T
c.3405G>T (p.Leu1135=)
c.3174G>T (n.3174G>T)
c.3249G>T (p.Leu1083=)
c.2565G>T (p.Leu855=)
n.3427G>T
n.4144G>T
 dbSNP
9g.95453522C>GCA466107683PTCH1c.3207G>C (p.Leu1069=)
c.3402G>C (p.Leu1134=)
c.*1713G>C (n.*1713G>C)
c.2952G>C (p.Leu984=)
n.736G>C
c.3405G>C (p.Leu1135=)
c.3174G>C (n.3174G>C)
c.3249G>C (p.Leu1083=)
c.2565G>C (p.Leu855=)
n.3427G>C
n.4144G>C
9g.95453522C>TCA466107686PTCH1c.3207G>A (p.Leu1069=)
c.3402G>A (p.Leu1134=)
c.*1713G>A (n.*1713G>A)
c.2952G>A (p.Leu984=)
n.736G>A
c.3405G>A (p.Leu1135=)
c.3174G>A (n.3174G>A)
c.3249G>A (p.Leu1083=)
c.2565G>A (p.Leu855=)
n.3427G>A
n.4144G>A
 ClinVar dbSNP
9g.95453525_95453527delCA2695210756PTCH1c.3205_3207del (p.Leu1069del)
c.3400_3402del (p.Leu1134del)
c.*1711_*1713del (n.*1711_*1713del)
c.2950_2952del (p.Leu984del)
n.734_736del
c.3403_3405del (p.Leu1135del)
c.3172_3174del (n.3172_3174del)
c.3247_3249del (p.Leu1083del)
c.2563_2565del (p.Leu855del)
n.3425_3427del
n.4142_4144del
9g.95453523A=CA1865583759PTCH1c.3206T= (p.Leu1069=)
c.3401T= (p.Leu1134=)
c.*1712T= (n.*1712T=)
c.2951T= (p.Leu984=)
n.735T=
c.3404T= (p.Leu1135=)
c.3173T= (n.3173T=)
c.3248T= (p.Leu1083=)
c.2564T= (p.Leu855=)
n.3426T=
n.4143T=
9g.95453523A>CCA374111740PTCH1c.3206T>G (p.Leu1069Arg)
c.3401T>G (p.Leu1134Arg)
c.*1712T>G (n.*1712T>G)
c.2951T>G (p.Leu984Arg)
n.735T>G
c.3404T>G (p.Leu1135Arg)
c.3173T>G (n.3173T>G)
c.3248T>G (p.Leu1083Arg)
c.2564T>G (p.Leu855Arg)
n.3426T>G
n.4143T>G
9g.95453523A>GCA374111741PTCH1c.3206T>C (p.Leu1069Pro)
c.3401T>C (p.Leu1134Pro)
c.*1712T>C (n.*1712T>C)
c.2951T>C (p.Leu984Pro)
n.735T>C
c.3404T>C (p.Leu1135Pro)
c.3173T>C (n.3173T>C)
c.3248T>C (p.Leu1083Pro)
c.2564T>C (p.Leu855Pro)
n.3426T>C
n.4143T>C
 ClinVar dbSNP
9g.95453523A>TCA374111742PTCH1c.3206T>A (p.Leu1069Gln)
c.3401T>A (p.Leu1134Gln)
c.*1712T>A (n.*1712T>A)
c.2951T>A (p.Leu984Gln)
n.735T>A
c.3404T>A (p.Leu1135Gln)
c.3173T>A (n.3173T>A)
c.3248T>A (p.Leu1083Gln)
c.2564T>A (p.Leu855Gln)
n.3426T>A
n.4143T>A
9g.95453524G>ACA466107695PTCH1c.3205C>T (p.Leu1069=)
c.3400C>T (p.Leu1134=)
c.*1711C>T (n.*1711C>T)
c.2950C>T (p.Leu984=)
n.734C>T
c.3403C>T (p.Leu1135=)
c.3172C>T (n.3172C>T)
c.3247C>T (p.Leu1083=)
c.2563C>T (p.Leu855=)
n.3425C>T
n.4142C>T
 dbSNP gnomAD v4
9g.95453524G>CCA374111743PTCH1c.3205C>G (p.Leu1069Val)
c.3400C>G (p.Leu1134Val)
c.*1711C>G (n.*1711C>G)
c.2950C>G (p.Leu984Val)
n.734C>G
c.3403C>G (p.Leu1135Val)
c.3172C>G (n.3172C>G)
c.3247C>G (p.Leu1083Val)
c.2563C>G (p.Leu855Val)
n.3425C>G
n.4142C>G
 dbSNP
9g.95453524G>TCA374111744PTCH1c.3205C>A (p.Leu1069Met)
c.3400C>A (p.Leu1134Met)
c.*1711C>A (n.*1711C>A)
c.2950C>A (p.Leu984Met)
n.734C>A
c.3403C>A (p.Leu1135Met)
c.3172C>A (n.3172C>A)
c.3247C>A (p.Leu1083Met)
c.2563C>A (p.Leu855Met)
n.3425C>A
n.4142C>A
9g.95453525C>ACA466107696PTCH1c.3204G>T (p.Leu1068=)
c.3399G>T (p.Leu1133=)
c.*1710G>T (n.*1710G>T)
c.2949G>T (p.Leu983=)
n.733G>T
c.3402G>T (p.Leu1134=)
c.3171G>T (n.3171G>T)
c.3246G>T (p.Leu1082=)
c.2562G>T (p.Leu854=)
n.3424G>T
n.4141G>T
 ClinVar gnomAD v4
9g.95453525C>GCA466107698PTCH1c.3204G>C (p.Leu1068=)
c.3399G>C (p.Leu1133=)
c.*1710G>C (n.*1710G>C)
c.2949G>C (p.Leu983=)
n.733G>C
c.3402G>C (p.Leu1134=)
c.3171G>C (n.3171G>C)
c.3246G>C (p.Leu1082=)
c.2562G>C (p.Leu854=)
n.3424G>C
n.4141G>C
9g.95453525C>TCA466107700PTCH1c.3204G>A (p.Leu1068=)
c.3399G>A (p.Leu1133=)
c.*1710G>A (n.*1710G>A)
c.2949G>A (p.Leu983=)
n.733G>A
c.3402G>A (p.Leu1134=)
c.3171G>A (n.3171G>A)
c.3246G>A (p.Leu1082=)
c.2562G>A (p.Leu854=)
n.3424G>A
n.4141G>A
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
9g.95453526A>CCA374111745PTCH1c.3203T>G (p.Leu1068Arg)
c.3398T>G (p.Leu1133Arg)
c.*1709T>G (n.*1709T>G)
c.2948T>G (p.Leu983Arg)
n.732T>G
c.3401T>G (p.Leu1134Arg)
c.3170T>G (n.3170T>G)
c.3245T>G (p.Leu1082Arg)
c.2561T>G (p.Leu854Arg)
n.3423T>G
n.4140T>G
9g.95453526A>GCA374111746PTCH1c.3203T>C (p.Leu1068Pro)
c.3398T>C (p.Leu1133Pro)
c.*1709T>C (n.*1709T>C)
c.2948T>C (p.Leu983Pro)
n.732T>C
c.3401T>C (p.Leu1134Pro)
c.3170T>C (n.3170T>C)
c.3245T>C (p.Leu1082Pro)
c.2561T>C (p.Leu854Pro)
n.3423T>C
n.4140T>C
9g.95453526A>TCA374111747PTCH1c.3203T>A (p.Leu1068Gln)
c.3398T>A (p.Leu1133Gln)
c.*1709T>A (n.*1709T>A)
c.2948T>A (p.Leu983Gln)
n.732T>A
c.3401T>A (p.Leu1134Gln)
c.3170T>A (n.3170T>A)
c.3245T>A (p.Leu1082Gln)
c.2561T>A (p.Leu854Gln)
n.3423T>A
n.4140T>A
 COSMIC COSMIC COSMIC COSMIC
9g.95453527G>ACA466107721PTCH1c.3202C>T (p.Leu1068=)
c.3397C>T (p.Leu1133=)
c.*1708C>T (n.*1708C>T)
c.2947C>T (p.Leu983=)
n.731C>T
c.3400C>T (p.Leu1134=)
c.3169C>T (n.3169C>T)
c.3244C>T (p.Leu1082=)
c.2560C>T (p.Leu854=)
n.3422C>T
n.4139C>T
9g.95453527G>CCA374111748PTCH1c.3202C>G (p.Leu1068Val)
c.3397C>G (p.Leu1133Val)
c.*1708C>G (n.*1708C>G)
c.2947C>G (p.Leu983Val)
n.731C>G
c.3400C>G (p.Leu1134Val)
c.3169C>G (n.3169C>G)
c.3244C>G (p.Leu1082Val)
c.2560C>G (p.Leu854Val)
n.3422C>G
n.4139C>G
 ClinVar dbSNP gnomAD v4
9g.95453527G=CA1865583772PTCH1c.3202C= (p.Leu1068=)
c.3397C= (p.Leu1133=)
c.*1708C= (n.*1708C=)
c.2947C= (p.Leu983=)
n.731C=
c.3400C= (p.Leu1134=)
c.3169C= (n.3169C=)
c.3244C= (p.Leu1082=)
c.2560C= (p.Leu854=)
n.3422C=
n.4139C=
9g.95453527G>TCA374111749PTCH1c.3202C>A (p.Leu1068Met)
c.3397C>A (p.Leu1133Met)
c.*1708C>A (n.*1708C>A)
c.2947C>A (p.Leu983Met)
n.731C>A
c.3400C>A (p.Leu1134Met)
c.3169C>A (n.3169C>A)
c.3244C>A (p.Leu1082Met)
c.2560C>A (p.Leu854Met)
n.3422C>A
n.4139C>A
9g.95453527_95453529delCA2580081157PTCH1c.3200_3202del (p.Thr1067_Leu1068delinsMet)
c.3395_3397del (p.Thr1132_Leu1133delinsMet)
c.*1706_*1708del (n.*1706_*1708del)
c.2945_2947del (p.Thr982_Leu983delinsMet)
n.729_731del
c.3398_3400del (p.Thr1133_Leu1134delinsMet)
c.3167_3169del (n.3167_3169del)
c.3242_3244del (p.Thr1081_Leu1082delinsMet)
c.2558_2560del (p.Thr853_Leu854delinsMet)
n.3420_3422del
n.4137_4139del
 ClinVar
9g.95453528A>CCA466107722PTCH1c.3201T>G (p.Thr1067=)
c.3396T>G (p.Thr1132=)
c.*1707T>G (n.*1707T>G)
c.2946T>G (p.Thr982=)
n.730T>G
c.3399T>G (p.Thr1133=)
c.3168T>G (n.3168T>G)
c.3243T>G (p.Thr1081=)
c.2559T>G (p.Thr853=)
n.3421T>G
n.4138T>G
9g.95453528A>GCA466107724PTCH1c.3201T>C (p.Thr1067=)
c.3396T>C (p.Thr1132=)
c.*1707T>C (n.*1707T>C)
c.2946T>C (p.Thr982=)
n.730T>C
c.3399T>C (p.Thr1133=)
c.3168T>C (n.3168T>C)
c.3243T>C (p.Thr1081=)
c.2559T>C (p.Thr853=)
n.3421T>C
n.4138T>C
9g.95453528A>TCA466107726PTCH1c.3201T>A (p.Thr1067=)
c.3396T>A (p.Thr1132=)
c.*1707T>A (n.*1707T>A)
c.2946T>A (p.Thr982=)
n.730T>A
c.3399T>A (p.Thr1133=)
c.3168T>A (n.3168T>A)
c.3243T>A (p.Thr1081=)
c.2559T>A (p.Thr853=)
n.3421T>A
n.4138T>A
9g.95453529G>ACA374111750PTCH1c.3200C>T (p.Thr1067Ile)
c.3395C>T (p.Thr1132Ile)
c.*1706C>T (n.*1706C>T)
c.2945C>T (p.Thr982Ile)
n.729C>T
c.3398C>T (p.Thr1133Ile)
c.3167C>T (n.3167C>T)
c.3242C>T (p.Thr1081Ile)
c.2558C>T (p.Thr853Ile)
n.3420C>T
n.4137C>T
9g.95453529G>CCA374111752PTCH1c.3200C>G (p.Thr1067Ser)
c.3395C>G (p.Thr1132Ser)
c.*1706C>G (n.*1706C>G)
c.2945C>G (p.Thr982Ser)
n.729C>G
c.3398C>G (p.Thr1133Ser)
c.3167C>G (n.3167C>G)
c.3242C>G (p.Thr1081Ser)
c.2558C>G (p.Thr853Ser)
n.3420C>G
n.4137C>G
9g.95453529G>TCA374111751PTCH1c.3200C>A (p.Thr1067Asn)
c.3395C>A (p.Thr1132Asn)
c.*1706C>A (n.*1706C>A)
c.2945C>A (p.Thr982Asn)
n.729C>A
c.3398C>A (p.Thr1133Asn)
c.3167C>A (n.3167C>A)
c.3242C>A (p.Thr1081Asn)
c.2558C>A (p.Thr853Asn)
n.3420C>A
n.4137C>A
9g.95453530T>ACA374111753PTCH1c.3199A>T (p.Thr1067Ser)
c.3394A>T (p.Thr1132Ser)
c.*1705A>T (n.*1705A>T)
c.2944A>T (p.Thr982Ser)
n.728A>T
c.3397A>T (p.Thr1133Ser)
c.3166A>T (n.3166A>T)
c.3241A>T (p.Thr1081Ser)
c.2557A>T (p.Thr853Ser)
n.3419A>T
n.4136A>T
9g.95453530T>CCA374111755PTCH1c.3199A>G (p.Thr1067Ala)
c.3394A>G (p.Thr1132Ala)
c.*1705A>G (n.*1705A>G)
c.2944A>G (p.Thr982Ala)
n.728A>G
c.3397A>G (p.Thr1133Ala)
c.3166A>G (n.3166A>G)
c.3241A>G (p.Thr1081Ala)
c.2557A>G (p.Thr853Ala)
n.3419A>G
n.4136A>G
 ClinVar dbSNP
9g.95453530T>GCA374111754PTCH1c.3199A>C (p.Thr1067Pro)
c.3394A>C (p.Thr1132Pro)
c.*1705A>C (n.*1705A>C)
c.2944A>C (p.Thr982Pro)
n.728A>C
c.3397A>C (p.Thr1133Pro)
c.3166A>C (n.3166A>C)
c.3241A>C (p.Thr1081Pro)
c.2557A>C (p.Thr853Pro)
n.3419A>C
n.4136A>C
 ClinVar
9g.95453530T=CA1865583773PTCH1c.3199A= (p.Thr1067=)
c.3394A= (p.Thr1132=)
c.*1705A= (n.*1705A=)
c.2944A= (p.Thr982=)
n.728A=
c.3397A= (p.Thr1133=)
c.3166A= (n.3166A=)
c.3241A= (p.Thr1081=)
c.2557A= (p.Thr853=)
n.3419A=
n.4136A=
9g.95453531G>ACA466107736PTCH1c.3198C>T (p.Ser1066=)
c.3393C>T (p.Ser1131=)
c.*1704C>T (n.*1704C>T)
c.2943C>T (p.Ser981=)
n.727C>T
c.3396C>T (p.Ser1132=)
c.3165C>T (n.3165C>T)
c.3240C>T (p.Ser1080=)
c.2556C>T (p.Ser852=)
n.3418C>T
n.4135C>T
 dbSNP gnomAD v2 gnomAD v4
9g.95453531G>CCA466107738PTCH1c.3198C>G (p.Ser1066=)
c.3393C>G (p.Ser1131=)
c.*1704C>G (n.*1704C>G)
c.2943C>G (p.Ser981=)
n.727C>G
c.3396C>G (p.Ser1132=)
c.3165C>G (n.3165C>G)
c.3240C>G (p.Ser1080=)
c.2556C>G (p.Ser852=)
n.3418C>G
n.4135C>G
9g.95453531G=CA1865583778PTCH1c.3198C= (p.Ser1066=)
c.3393C= (p.Ser1131=)
c.*1704C= (n.*1704C=)
c.2943C= (p.Ser981=)
n.727C=
c.3396C= (p.Ser1132=)
c.3165C= (n.3165C=)
c.3240C= (p.Ser1080=)
c.2556C= (p.Ser852=)
n.3418C=
n.4135C=
9g.95453531G>TCA466107740PTCH1c.3198C>A (p.Ser1066=)
c.3393C>A (p.Ser1131=)
c.*1704C>A (n.*1704C>A)
c.2943C>A (p.Ser981=)
n.727C>A
c.3396C>A (p.Ser1132=)
c.3165C>A (n.3165C>A)
c.3240C>A (p.Ser1080=)
c.2556C>A (p.Ser852=)
n.3418C>A
n.4135C>A
9g.95453532G>ACA374111756PTCH1c.3197C>T (p.Ser1066Phe)
c.3392C>T (p.Ser1131Phe)
c.*1703C>T (n.*1703C>T)
c.2942C>T (p.Ser981Phe)
n.726C>T
c.3395C>T (p.Ser1132Phe)
c.3164C>T (n.3164C>T)
c.3239C>T (p.Ser1080Phe)
c.2555C>T (p.Ser852Phe)
n.3417C>T
n.4134C>T
 ClinVar dbSNP gnomAD v4
9g.95453532G>CCA374111758PTCH1c.3197C>G (p.Ser1066Cys)
c.3392C>G (p.Ser1131Cys)
c.*1703C>G (n.*1703C>G)
c.2942C>G (p.Ser981Cys)
n.726C>G
c.3395C>G (p.Ser1132Cys)
c.3164C>G (n.3164C>G)
c.3239C>G (p.Ser1080Cys)
c.2555C>G (p.Ser852Cys)
n.3417C>G
n.4134C>G
 gnomAD v4
9g.95453532G=CA1865583786PTCH1c.3197C= (p.Ser1066=)
c.3392C= (p.Ser1131=)
c.*1703C= (n.*1703C=)
c.2942C= (p.Ser981=)
n.726C=
c.3395C= (p.Ser1132=)
c.3164C= (n.3164C=)
c.3239C= (p.Ser1080=)
c.2555C= (p.Ser852=)
n.3417C=
n.4134C=
9g.95453532G>TCA374111757PTCH1c.3197C>A (p.Ser1066Tyr)
c.3392C>A (p.Ser1131Tyr)
c.*1703C>A (n.*1703C>A)
c.2942C>A (p.Ser981Tyr)
n.726C>A
c.3395C>A (p.Ser1132Tyr)
c.3164C>A (n.3164C>A)
c.3239C>A (p.Ser1080Tyr)
c.2555C>A (p.Ser852Tyr)
n.3417C>A
n.4134C>A
9g.95453533A=CA1865583792PTCH1c.3196T= (p.Ser1066=)
c.3391T= (p.Ser1131=)
c.*1702T= (n.*1702T=)
c.2941T= (p.Ser981=)
n.725T=
c.3394T= (p.Ser1132=)
c.3163T= (n.3163T=)
c.3238T= (p.Ser1080=)
c.2554T= (p.Ser852=)
n.3416T=
n.4133T=
9g.95453533A>CCA374111759PTCH1c.3196T>G (p.Ser1066Ala)
c.3391T>G (p.Ser1131Ala)
c.*1702T>G (n.*1702T>G)
c.2941T>G (p.Ser981Ala)
n.725T>G
c.3394T>G (p.Ser1132Ala)
c.3163T>G (n.3163T>G)
c.3238T>G (p.Ser1080Ala)
c.2554T>G (p.Ser852Ala)
n.3416T>G
n.4133T>G
9g.95453533A>GCA10582674PTCH1c.3196T>C (p.Ser1066Pro)
c.3391T>C (p.Ser1131Pro)
c.*1702T>C (n.*1702T>C)
c.2941T>C (p.Ser981Pro)
n.725T>C
c.3394T>C (p.Ser1132Pro)
c.3163T>C (n.3163T>C)
c.3238T>C (p.Ser1080Pro)
c.2554T>C (p.Ser852Pro)
n.3416T>C
n.4133T>C
 ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC
9g.95453533A>TCA374111760PTCH1c.3196T>A (p.Ser1066Thr)
c.3391T>A (p.Ser1131Thr)
c.*1702T>A (n.*1702T>A)
c.2941T>A (p.Ser981Thr)
n.725T>A
c.3394T>A (p.Ser1132Thr)
c.3163T>A (n.3163T>A)
c.3238T>A (p.Ser1080Thr)
c.2554T>A (p.Ser852Thr)
n.3416T>A
n.4133T>A
 ClinVar dbSNP
9g.95453534C>ACA466107754PTCH1c.3195G>T (p.Val1065=)
c.3390G>T (p.Val1130=)
c.*1701G>T (n.*1701G>T)
c.2940G>T (p.Val980=)
n.724G>T
c.3393G>T (p.Val1131=)
c.3162G>T (n.3162G>T)
c.3237G>T (p.Val1079=)
c.2553G>T (p.Val851=)
n.3415G>T
n.4132G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.95453534C=CA1865583809PTCH1c.3195G= (p.Val1065=)
c.3390G= (p.Val1130=)
c.*1701G= (n.*1701G=)
c.2940G= (p.Val980=)
n.724G=
c.3393G= (p.Val1131=)
c.3162G= (n.3162G=)
c.3237G= (p.Val1079=)
c.2553G= (p.Val851=)
n.3415G=
n.4132G=
9g.95453534C>GCA466107758PTCH1c.3195G>C (p.Val1065=)
c.3390G>C (p.Val1130=)
c.*1701G>C (n.*1701G>C)
c.2940G>C (p.Val980=)
n.724G>C
c.3393G>C (p.Val1131=)
c.3162G>C (n.3162G>C)
c.3237G>C (p.Val1079=)
c.2553G>C (p.Val851=)
n.3415G>C
n.4132G>C
9g.95453534C>TCA466107759PTCH1c.3195G>A (p.Val1065=)
c.3390G>A (p.Val1130=)
c.*1701G>A (n.*1701G>A)
c.2940G>A (p.Val980=)
n.724G>A
c.3393G>A (p.Val1131=)
c.3162G>A (n.3162G>A)
c.3237G>A (p.Val1079=)
c.2553G>A (p.Val851=)
n.3415G>A
n.4132G>A
 ClinVar dbSNP gnomAD v4
9g.95453535A=CA1865583812PTCH1c.3194T= (p.Val1065=)
c.3389T= (p.Val1130=)
c.*1700T= (n.*1700T=)
c.2939T= (p.Val980=)
n.723T=
c.3392T= (p.Val1131=)
c.3161T= (n.3161T=)
c.3236T= (p.Val1079=)
c.2552T= (p.Val851=)
n.3414T=
n.4131T=
9g.95453535A>CCA374111761PTCH1c.3194T>G (p.Val1065Gly)
c.3389T>G (p.Val1130Gly)
c.*1700T>G (n.*1700T>G)
c.2939T>G (p.Val980Gly)
n.723T>G
c.3392T>G (p.Val1131Gly)
c.3161T>G (n.3161T>G)
c.3236T>G (p.Val1079Gly)
c.2552T>G (p.Val851Gly)
n.3414T>G
n.4131T>G
9g.95453535A>GCA374111763PTCH1c.3194T>C (p.Val1065Ala)
c.3389T>C (p.Val1130Ala)
c.*1700T>C (n.*1700T>C)
c.2939T>C (p.Val980Ala)
n.723T>C
c.3392T>C (p.Val1131Ala)
c.3161T>C (n.3161T>C)
c.3236T>C (p.Val1079Ala)
c.2552T>C (p.Val851Ala)
n.3414T>C
n.4131T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.95453535A>TCA374111762PTCH1c.3194T>A (p.Val1065Glu)
c.3389T>A (p.Val1130Glu)
c.*1700T>A (n.*1700T>A)
c.2939T>A (p.Val980Glu)
n.723T>A
c.3392T>A (p.Val1131Glu)
c.3161T>A (n.3161T>A)
c.3236T>A (p.Val1079Glu)
c.2552T>A (p.Val851Glu)
n.3414T>A
n.4131T>A
9g.95453536C>ACA374111764PTCH1c.3193G>T (p.Val1065Leu)
c.3388G>T (p.Val1130Leu)
c.*1699G>T (n.*1699G>T)
c.2938G>T (p.Val980Leu)
n.722G>T
c.3391G>T (p.Val1131Leu)
c.3160G>T (n.3160G>T)
c.3235G>T (p.Val1079Leu)
c.2551G>T (p.Val851Leu)
n.3413G>T
n.4130G>T
 ClinVar
9g.95453536C=CA1865583822PTCH1c.3193G= (p.Val1065=)
c.3388G= (p.Val1130=)
c.*1699G= (n.*1699G=)
c.2938G= (p.Val980=)
n.722G=
c.3391G= (p.Val1131=)
c.3160G= (n.3160G=)
c.3235G= (p.Val1079=)
c.2551G= (p.Val851=)
n.3413G=
n.4130G=
9g.95453536C>GCA374111765PTCH1c.3193G>C (p.Val1065Leu)
c.3388G>C (p.Val1130Leu)
c.*1699G>C (n.*1699G>C)
c.2938G>C (p.Val980Leu)
n.722G>C
c.3391G>C (p.Val1131Leu)
c.3160G>C (n.3160G>C)
c.3235G>C (p.Val1079Leu)
c.2551G>C (p.Val851Leu)
n.3413G>C
n.4130G>C
 dbSNP
9g.95453536C>TCA5138159PTCH1c.3193G>A (p.Val1065Met)
c.3388G>A (p.Val1130Met)
c.*1699G>A (n.*1699G>A)
c.2938G>A (p.Val980Met)
n.722G>A
c.3391G>A (p.Val1131Met)
c.3160G>A (n.3160G>A)
c.3235G>A (p.Val1079Met)
c.2551G>A (p.Val851Met)
n.3413G>A
n.4130G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
9g.95453537G>ACA5138160PTCH1c.3192C>T (p.Ala1064=)
c.3387C>T (p.Ala1129=)
c.*1698C>T (n.*1698C>T)
c.2937C>T (p.Ala979=)
n.721C>T
c.3390C>T (p.Ala1130=)
c.3159C>T (n.3159C>T)
c.3234C>T (p.Ala1078=)
c.2550C>T (p.Ala850=)
n.3412C>T
n.4129C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95453537G>CCA466107775PTCH1c.3192C>G (p.Ala1064=)
c.3387C>G (p.Ala1129=)
c.*1698C>G (n.*1698C>G)
c.2937C>G (p.Ala979=)
n.721C>G
c.3390C>G (p.Ala1130=)
c.3159C>G (n.3159C>G)
c.3234C>G (p.Ala1078=)
c.2550C>G (p.Ala850=)
n.3412C>G
n.4129C>G
9g.95453537G=CA1865583832PTCH1c.3192C= (p.Ala1064=)
c.3387C= (p.Ala1129=)
c.*1698C= (n.*1698C=)
c.2937C= (p.Ala979=)
n.721C=
c.3390C= (p.Ala1130=)
c.3159C= (n.3159C=)
c.3234C= (p.Ala1078=)
c.2550C= (p.Ala850=)
n.3412C=
n.4129C=
9g.95453537G>TCA466107777PTCH1c.3192C>A (p.Ala1064=)
c.3387C>A (p.Ala1129=)
c.*1698C>A (n.*1698C>A)
c.2937C>A (p.Ala979=)
n.721C>A
c.3390C>A (p.Ala1130=)
c.3159C>A (n.3159C>A)
c.3234C>A (p.Ala1078=)
c.2550C>A (p.Ala850=)
n.3412C>A
n.4129C>A
9g.95453538G>ACA374111768PTCH1c.3191C>T (p.Ala1064Val)
c.3386C>T (p.Ala1129Val)
c.*1697C>T (n.*1697C>T)
c.2936C>T (p.Ala979Val)
n.720C>T
c.3389C>T (p.Ala1130Val)
c.3158C>T (n.3158C>T)
c.3233C>T (p.Ala1078Val)
c.2549C>T (p.Ala850Val)
n.3411C>T
n.4128C>T
 ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC
9g.95453538G>CCA374111766PTCH1c.3191C>G (p.Ala1064Gly)
c.3386C>G (p.Ala1129Gly)
c.*1697C>G (n.*1697C>G)
c.2936C>G (p.Ala979Gly)
n.720C>G
c.3389C>G (p.Ala1130Gly)
c.3158C>G (n.3158C>G)
c.3233C>G (p.Ala1078Gly)
c.2549C>G (p.Ala850Gly)
n.3411C>G
n.4128C>G
9g.95453538G=CA1865583849PTCH1c.3191C= (p.Ala1064=)
c.3386C= (p.Ala1129=)
c.*1697C= (n.*1697C=)
c.2936C= (p.Ala979=)
n.720C=
c.3389C= (p.Ala1130=)
c.3158C= (n.3158C=)
c.3233C= (p.Ala1078=)
c.2549C= (p.Ala850=)
n.3411C=
n.4128C=
9g.95453538G>TCA374111767PTCH1c.3191C>A (p.Ala1064Asp)
c.3386C>A (p.Ala1129Asp)
c.*1697C>A (n.*1697C>A)
c.2936C>A (p.Ala979Asp)
n.720C>A
c.3389C>A (p.Ala1130Asp)
c.3158C>A (n.3158C>A)
c.3233C>A (p.Ala1078Asp)
c.2549C>A (p.Ala850Asp)
n.3411C>A
n.4128C>A
9g.95453539C>ACA374111769PTCH1c.3190G>T (p.Ala1064Ser)
c.3385G>T (p.Ala1129Ser)
c.*1696G>T (n.*1696G>T)
c.2935G>T (p.Ala979Ser)
n.719G>T
c.3388G>T (p.Ala1130Ser)
c.3157G>T (n.3157G>T)
c.3232G>T (p.Ala1078Ser)
c.2548G>T (p.Ala850Ser)
n.3410G>T
n.4127G>T
 dbSNP gnomAD v2 gnomAD v4
9g.95453539C=CA1865583867PTCH1c.3190G= (p.Ala1064=)
c.3385G= (p.Ala1129=)
c.*1696G= (n.*1696G=)
c.2935G= (p.Ala979=)
n.719G=
c.3388G= (p.Ala1130=)
c.3157G= (n.3157G=)
c.3232G= (p.Ala1078=)
c.2548G= (p.Ala850=)
n.3410G=
n.4127G=
9g.95453539C>GCA374111770PTCH1c.3190G>C (p.Ala1064Pro)
c.3385G>C (p.Ala1129Pro)
c.*1696G>C (n.*1696G>C)
c.2935G>C (p.Ala979Pro)
n.719G>C
c.3388G>C (p.Ala1130Pro)
c.3157G>C (n.3157G>C)
c.3232G>C (p.Ala1078Pro)
c.2548G>C (p.Ala850Pro)
n.3410G>C
n.4127G>C
9g.95453539C>TCA336551PTCH1c.3190G>A (p.Ala1064Thr)
c.3385G>A (p.Ala1129Thr)
c.*1696G>A (n.*1696G>A)
c.2935G>A (p.Ala979Thr)
n.719G>A
c.3388G>A (p.Ala1130Thr)
c.3157G>A (n.3157G>A)
c.3232G>A (p.Ala1078Thr)
c.2548G>A (p.Ala850Thr)
n.3410G>A
n.4127G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95453540G>ACA205390PTCH1c.3189C>T (p.Gly1063=)
c.3384C>T (p.Gly1128=)
c.*1695C>T (n.*1695C>T)
c.2934C>T (p.Gly978=)
n.718C>T
c.3387C>T (p.Gly1129=)
c.3156C>T (n.3156C>T)
c.3231C>T (p.Gly1077=)
c.2547C>T (p.Gly849=)
n.3409C>T
n.4126C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95453540G>CCA466107790PTCH1c.3189C>G (p.Gly1063=)
c.3384C>G (p.Gly1128=)
c.*1695C>G (n.*1695C>G)
c.2934C>G (p.Gly978=)
n.718C>G
c.3387C>G (p.Gly1129=)
c.3156C>G (n.3156C>G)
c.3231C>G (p.Gly1077=)
c.2547C>G (p.Gly849=)
n.3409C>G
n.4126C>G
9g.95453540G=CA1865583875PTCH1c.3189C= (p.Gly1063=)
c.3384C= (p.Gly1128=)
c.*1695C= (n.*1695C=)
c.2934C= (p.Gly978=)
n.718C=
c.3387C= (p.Gly1129=)
c.3156C= (n.3156C=)
c.3231C= (p.Gly1077=)
c.2547C= (p.Gly849=)
n.3409C=
n.4126C=
9g.95453540G>TCA466107788PTCH1c.3189C>A (p.Gly1063=)
c.3384C>A (p.Gly1128=)
c.*1695C>A (n.*1695C>A)
c.2934C>A (p.Gly978=)
n.718C>A
c.3387C>A (p.Gly1129=)
c.3156C>A (n.3156C>A)
c.3231C>A (p.Gly1077=)
c.2547C>A (p.Gly849=)
n.3409C>A
n.4126C>A
9g.95453541C>ACA374111773PTCH1c.3188G>T (p.Gly1063Val)
c.3383G>T (p.Gly1128Val)
c.*1694G>T (n.*1694G>T)
c.2933G>T (p.Gly978Val)
n.717G>T
c.3386G>T (p.Gly1129Val)
c.3155G>T (n.3155G>T)
c.3230G>T (p.Gly1077Val)
c.2546G>T (p.Gly849Val)
n.3408G>T
n.4125G>T
9g.95453541C>GCA374111772PTCH1c.3188G>C (p.Gly1063Ala)
c.3383G>C (p.Gly1128Ala)
c.*1694G>C (n.*1694G>C)
c.2933G>C (p.Gly978Ala)
n.717G>C
c.3386G>C (p.Gly1129Ala)
c.3155G>C (n.3155G>C)
c.3230G>C (p.Gly1077Ala)
c.2546G>C (p.Gly849Ala)
n.3408G>C
n.4125G>C
9g.95453541C>TCA374111771PTCH1c.3188G>A (p.Gly1063Asp)
c.3383G>A (p.Gly1128Asp)
c.*1694G>A (n.*1694G>A)
c.2933G>A (p.Gly978Asp)
n.717G>A
c.3386G>A (p.Gly1129Asp)
c.3155G>A (n.3155G>A)
c.3230G>A (p.Gly1077Asp)
c.2546G>A (p.Gly849Asp)
n.3408G>A
n.4125G>A
 dbSNP COSMIC
9g.95453542C>ACA374111774PTCH1c.3187G>T (p.Gly1063Cys)
c.3382G>T (p.Gly1128Cys)
c.*1693G>T (n.*1693G>T)
c.2932G>T (p.Gly978Cys)
n.716G>T
c.3385G>T (p.Gly1129Cys)
c.3154G>T (n.3154G>T)
c.3229G>T (p.Gly1077Cys)
c.2545G>T (p.Gly849Cys)
n.3407G>T
n.4124G>T
9g.95453542C=CA1865583894PTCH1c.3187G= (p.Gly1063=)
c.3382G= (p.Gly1128=)
c.*1693G= (n.*1693G=)
c.2932G= (p.Gly978=)
n.716G=
c.3385G= (p.Gly1129=)
c.3154G= (n.3154G=)
c.3229G= (p.Gly1077=)
c.2545G= (p.Gly849=)
n.3407G=
n.4124G=
9g.95453542C>GCA374111775PTCH1c.3187G>C (p.Gly1063Arg)
c.3382G>C (p.Gly1128Arg)
c.*1693G>C (n.*1693G>C)
c.2932G>C (p.Gly978Arg)
n.716G>C
c.3385G>C (p.Gly1129Arg)
c.3154G>C (n.3154G>C)
c.3229G>C (p.Gly1077Arg)
c.2545G>C (p.Gly849Arg)
n.3407G>C
n.4124G>C
 ClinVar dbSNP
9g.95453542C>TCA374111776PTCH1c.3187G>A (p.Gly1063Ser)
c.3382G>A (p.Gly1128Ser)
c.*1693G>A (n.*1693G>A)
c.2932G>A (p.Gly978Ser)
n.716G>A
c.3385G>A (p.Gly1129Ser)
c.3154G>A (n.3154G>A)
c.3229G>A (p.Gly1077Ser)
c.2545G>A (p.Gly849Ser)
n.3407G>A
n.4124G>A
9g.95453542_95453543delinsCACA1865583896PTCH1c.3186_3187delinsTG (p.Asp1062=)
c.3381_3382delinsTG (p.Asp1127=)
c.*1692_*1693delinsTG (n.*1692_*1693delinsTG)
c.2931_2932delinsTG (p.Asp977=)
n.715_716delinsTG
c.3384_3385delinsTG (p.Asp1128=)
c.3153_3154delinsTG (n.3153_3154delinsTG)
c.3228_3229delinsTG (p.Asp1076=)
c.2544_2545delinsTG (p.Asp848=)
n.3406_3407delinsTG
n.4123_4124delinsTG
9g.95453543delCA1139661040PTCH1c.3186del (p.Asp1062GlufsTer11)
c.3381del (p.Asp1127GlufsTer11)
c.*1692del (n.*1692del)
c.2931del (p.Asp977GlufsTer11)
n.715del
c.3384del (p.Asp1128GlufsTer11)
c.3153del (n.3153del)
c.3228del (p.Asp1076GlufsTer11)
c.2544del (p.Asp848GlufsTer11)
n.3406del
n.4123del
 ClinVar dbSNP
9g.95453543A=CA1865583919PTCH1c.3186T= (p.Asp1062=)
c.3381T= (p.Asp1127=)
c.*1692T= (n.*1692T=)
c.2931T= (p.Asp977=)
n.715T=
c.3384T= (p.Asp1128=)
c.3153T= (n.3153T=)
c.3228T= (p.Asp1076=)
c.2544T= (p.Asp848=)
n.3406T=
n.4123T=
9g.95453543A>CCA374111777PTCH1c.3186T>G (p.Asp1062Glu)
c.3381T>G (p.Asp1127Glu)
c.*1692T>G (n.*1692T>G)
c.2931T>G (p.Asp977Glu)
n.715T>G
c.3384T>G (p.Asp1128Glu)
c.3153T>G (n.3153T>G)
c.3228T>G (p.Asp1076Glu)
c.2544T>G (p.Asp848Glu)
n.3406T>G
n.4123T>G
9g.95453543A>GCA5138161PTCH1c.3186T>C (p.Asp1062=)
c.3381T>C (p.Asp1127=)
c.*1692T>C (n.*1692T>C)
c.2931T>C (p.Asp977=)
n.715T>C
c.3384T>C (p.Asp1128=)
c.3153T>C (n.3153T>C)
c.3228T>C (p.Asp1076=)
c.2544T>C (p.Asp848=)
n.3406T>C
n.4123T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.95453543A>TCA374111778PTCH1c.3186T>A (p.Asp1062Glu)
c.3381T>A (p.Asp1127Glu)
c.*1692T>A (n.*1692T>A)
c.2931T>A (p.Asp977Glu)
n.715T>A
c.3384T>A (p.Asp1128Glu)
c.3153T>A (n.3153T>A)
c.3228T>A (p.Asp1076Glu)
c.2544T>A (p.Asp848Glu)
n.3406T>A
n.4123T>A
9g.95453544T>ACA374111779PTCH1c.3185A>T (p.Asp1062Val)
c.3380A>T (p.Asp1127Val)
c.*1691A>T (n.*1691A>T)
c.2930A>T (p.Asp977Val)
n.714A>T
c.3383A>T (p.Asp1128Val)
c.3152A>T (n.3152A>T)
c.3227A>T (p.Asp1076Val)
c.2543A>T (p.Asp848Val)
n.3405A>T
n.4122A>T
9g.95453544T>CCA374111781PTCH1c.3185A>G (p.Asp1062Gly)
c.3380A>G (p.Asp1127Gly)
c.*1691A>G (n.*1691A>G)
c.2930A>G (p.Asp977Gly)
n.714A>G
c.3383A>G (p.Asp1128Gly)
c.3152A>G (n.3152A>G)
c.3227A>G (p.Asp1076Gly)
c.2543A>G (p.Asp848Gly)
n.3405A>G
n.4122A>G
9g.95453544T>GCA374111780PTCH1c.3185A>C (p.Asp1062Ala)
c.3380A>C (p.Asp1127Ala)
c.*1691A>C (n.*1691A>C)
c.2930A>C (p.Asp977Ala)
n.714A>C
c.3383A>C (p.Asp1128Ala)
c.3152A>C (n.3152A>C)
c.3227A>C (p.Asp1076Ala)
c.2543A>C (p.Asp848Ala)
n.3405A>C
n.4122A>C
9g.95453545C>ACA374111782PTCH1c.3184G>T (p.Asp1062Tyr)
c.3379G>T (p.Asp1127Tyr)
c.*1690G>T (n.*1690G>T)
c.2929G>T (p.Asp977Tyr)
n.713G>T
c.3382G>T (p.Asp1128Tyr)
c.3151G>T (n.3151G>T)
c.3226G>T (p.Asp1076Tyr)
c.2542G>T (p.Asp848Tyr)
n.3404G>T
n.4121G>T
9g.95453545C>GCA374111783PTCH1c.3184G>C (p.Asp1062His)
c.3379G>C (p.Asp1127His)
c.*1690G>C (n.*1690G>C)
c.2929G>C (p.Asp977His)
n.713G>C
c.3382G>C (p.Asp1128His)
c.3151G>C (n.3151G>C)
c.3226G>C (p.Asp1076His)
c.2542G>C (p.Asp848His)
n.3404G>C
n.4121G>C
9g.95453545C>TCA374111784PTCH1c.3184G>A (p.Asp1062Asn)
c.3379G>A (p.Asp1127Asn)
c.*1690G>A (n.*1690G>A)
c.2929G>A (p.Asp977Asn)
n.713G>A
c.3382G>A (p.Asp1128Asn)
c.3151G>A (n.3151G>A)
c.3226G>A (p.Asp1076Asn)
c.2542G>A (p.Asp848Asn)
n.3404G>A
n.4121G>A
9g.95453546C>ACA466107826PTCH1c.3183G>T (p.Leu1061=)
c.3378G>T (p.Leu1126=)
c.*1689G>T (n.*1689G>T)
c.2928G>T (p.Leu976=)
n.712G>T
c.3381G>T (p.Leu1127=)
c.3150G>T (n.3150G>T)
c.3225G>T (p.Leu1075=)
c.2541G>T (p.Leu847=)
n.3403G>T
n.4120G>T
9g.95453546C>GCA466107834PTCH1c.3183G>C (p.Leu1061=)
c.3378G>C (p.Leu1126=)
c.*1689G>C (n.*1689G>C)
c.2928G>C (p.Leu976=)
n.712G>C
c.3381G>C (p.Leu1127=)
c.3150G>C (n.3150G>C)
c.3225G>C (p.Leu1075=)
c.2541G>C (p.Leu847=)
n.3403G>C
n.4120G>C
9g.95453546C>TCA466107828PTCH1c.3183G>A (p.Leu1061=)
c.3378G>A (p.Leu1126=)
c.*1689G>A (n.*1689G>A)
c.2928G>A (p.Leu976=)
n.712G>A
c.3381G>A (p.Leu1127=)
c.3150G>A (n.3150G>A)
c.3225G>A (p.Leu1075=)
c.2541G>A (p.Leu847=)
n.3403G>A
n.4120G>A
9g.95453547A>CCA374111785PTCH1c.3182T>G (p.Leu1061Arg)
c.3377T>G (p.Leu1126Arg)
c.*1688T>G (n.*1688T>G)
c.2927T>G (p.Leu976Arg)
n.711T>G
c.3380T>G (p.Leu1127Arg)
c.3149T>G (n.3149T>G)
c.3224T>G (p.Leu1075Arg)
c.2540T>G (p.Leu847Arg)
n.3402T>G
n.4119T>G
9g.95453547A>GCA374111786PTCH1c.3182T>C (p.Leu1061Pro)
c.3377T>C (p.Leu1126Pro)
c.*1688T>C (n.*1688T>C)
c.2927T>C (p.Leu976Pro)
n.711T>C
c.3380T>C (p.Leu1127Pro)
c.3149T>C (n.3149T>C)
c.3224T>C (p.Leu1075Pro)
c.2540T>C (p.Leu847Pro)
n.3402T>C
n.4119T>C
9g.95453547A>TCA374111787PTCH1c.3182T>A (p.Leu1061Gln)
c.3377T>A (p.Leu1126Gln)
c.*1688T>A (n.*1688T>A)
c.2927T>A (p.Leu976Gln)
n.711T>A
c.3380T>A (p.Leu1127Gln)
c.3149T>A (n.3149T>A)
c.3224T>A (p.Leu1075Gln)
c.2540T>A (p.Leu847Gln)
n.3402T>A
n.4119T>A
9g.95453548G>ACA196571065PTCH1c.3181C>T (p.Leu1061=)
c.3376C>T (p.Leu1126=)
c.*1687C>T (n.*1687C>T)
c.2926C>T (p.Leu976=)
n.710C>T
c.3379C>T (p.Leu1127=)
c.3148C>T (n.3148C>T)
c.3223C>T (p.Leu1075=)
c.2539C>T (p.Leu847=)
n.3401C>T
n.4118C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.95453548G>CCA374111788PTCH1c.3181C>G (p.Leu1061Val)
c.3376C>G (p.Leu1126Val)
c.*1687C>G (n.*1687C>G)
c.2926C>G (p.Leu976Val)
n.710C>G
c.3379C>G (p.Leu1127Val)
c.3148C>G (n.3148C>G)
c.3223C>G (p.Leu1075Val)
c.2539C>G (p.Leu847Val)
n.3401C>G
n.4118C>G
 ClinVar dbSNP
9g.95453548G=CA1865583928PTCH1c.3181C= (p.Leu1061=)
c.3376C= (p.Leu1126=)
c.*1687C= (n.*1687C=)
c.2926C= (p.Leu976=)
n.710C=
c.3379C= (p.Leu1127=)
c.3148C= (n.3148C=)
c.3223C= (p.Leu1075=)
c.2539C= (p.Leu847=)
n.3401C=
n.4118C=
9g.95453548G>TCA374111789PTCH1c.3181C>A (p.Leu1061Met)
c.3376C>A (p.Leu1126Met)
c.*1687C>A (n.*1687C>A)
c.2926C>A (p.Leu976Met)
n.710C>A
c.3379C>A (p.Leu1127Met)
c.3148C>A (n.3148C>A)
c.3223C>A (p.Leu1075Met)
c.2539C>A (p.Leu847Met)
n.3401C>A
n.4118C>A
9g.95453548_95453549delinsAACA645546662PTCH1c.3180_3181delinsTT (p.Val1060=)
c.3375_3376delinsTT (p.Val1125=)
c.*1686_*1687delinsTT (n.*1686_*1687delinsTT)
c.2925_2926delinsTT (p.Val975=)
n.709_710delinsTT
c.3378_3379delinsTT (p.Val1126=)
c.3147_3148delinsTT (n.3147_3148delinsTT)
c.3222_3223delinsTT (p.Val1074=)
c.2538_2539delinsTT (p.Val846=)
n.3400_3401delinsTT
n.4117_4118delinsTT
 COSMIC
9g.95453549G>ACA466107847PTCH1c.3180C>T (p.Val1060=)
c.3375C>T (p.Val1125=)
c.*1686C>T (n.*1686C>T)
c.2925C>T (p.Val975=)
n.709C>T
c.3378C>T (p.Val1126=)
c.3147C>T (n.3147C>T)
c.3222C>T (p.Val1074=)
c.2538C>T (p.Val846=)
n.3400C>T
n.4117C>T
 ClinVar
9g.95453549G>CCA466107849PTCH1c.3180C>G (p.Val1060=)
c.3375C>G (p.Val1125=)
c.*1686C>G (n.*1686C>G)
c.2925C>G (p.Val975=)
n.709C>G
c.3378C>G (p.Val1126=)
c.3147C>G (n.3147C>G)
c.3222C>G (p.Val1074=)
c.2538C>G (p.Val846=)
n.3400C>G
n.4117C>G
 ClinVar gnomAD v4
9g.95453549G>TCA466107851PTCH1c.3180C>A (p.Val1060=)
c.3375C>A (p.Val1125=)
c.*1686C>A (n.*1686C>A)
c.2925C>A (p.Val975=)
n.709C>A
c.3378C>A (p.Val1126=)
c.3147C>A (n.3147C>A)
c.3222C>A (p.Val1074=)
c.2538C>A (p.Val846=)
n.3400C>A
n.4117C>A
9g.95453550A>CCA374111790PTCH1c.3179T>G (p.Val1060Gly)
c.3374T>G (p.Val1125Gly)
c.*1685T>G (n.*1685T>G)
c.2924T>G (p.Val975Gly)
n.708T>G
c.3377T>G (p.Val1126Gly)
c.3146T>G (n.3146T>G)
c.3221T>G (p.Val1074Gly)
c.2537T>G (p.Val846Gly)
n.3399T>G
n.4116T>G
9g.95453550A>GCA374111791PTCH1c.3179T>C (p.Val1060Ala)
c.3374T>C (p.Val1125Ala)
c.*1685T>C (n.*1685T>C)
c.2924T>C (p.Val975Ala)
n.708T>C
c.3377T>C (p.Val1126Ala)
c.3146T>C (n.3146T>C)
c.3221T>C (p.Val1074Ala)
c.2537T>C (p.Val846Ala)
n.3399T>C
n.4116T>C
9g.95453550A>TCA374111792PTCH1c.3179T>A (p.Val1060Asp)
c.3374T>A (p.Val1125Asp)
c.*1685T>A (n.*1685T>A)
c.2924T>A (p.Val975Asp)
n.708T>A
c.3377T>A (p.Val1126Asp)
c.3146T>A (n.3146T>A)
c.3221T>A (p.Val1074Asp)
c.2537T>A (p.Val846Asp)
n.3399T>A
n.4116T>A
 dbSNP
9g.95453551C>ACA374111793PTCH1c.3178G>T (p.Val1060Phe)
c.3373G>T (p.Val1125Phe)
c.*1684G>T (n.*1684G>T)
c.2923G>T (p.Val975Phe)
n.707G>T
c.3376G>T (p.Val1126Phe)
c.3145G>T (n.3145G>T)
c.3220G>T (p.Val1074Phe)
c.2536G>T (p.Val846Phe)
n.3398G>T
n.4115G>T
 ClinVar dbSNP
9g.95453551C=CA1865583941PTCH1c.3178G= (p.Val1060=)
c.3373G= (p.Val1125=)
c.*1684G= (n.*1684G=)
c.2923G= (p.Val975=)
n.707G=
c.3376G= (p.Val1126=)
c.3145G= (n.3145G=)
c.3220G= (p.Val1074=)
c.2536G= (p.Val846=)
n.3398G=
n.4115G=
9g.95453551C>GCA374111794PTCH1c.3178G>C (p.Val1060Leu)
c.3373G>C (p.Val1125Leu)
c.*1684G>C (n.*1684G>C)
c.2923G>C (p.Val975Leu)
n.707G>C
c.3376G>C (p.Val1126Leu)
c.3145G>C (n.3145G>C)
c.3220G>C (p.Val1074Leu)
c.2536G>C (p.Val846Leu)
n.3398G>C
n.4115G>C
9g.95453551C>TCA161694PTCH1c.3178G>A (p.Val1060Ile)
c.3373G>A (p.Val1125Ile)
c.*1684G>A (n.*1684G>A)
c.2923G>A (p.Val975Ile)
n.707G>A
c.3376G>A (p.Val1126Ile)
c.3145G>A (n.3145G>A)
c.3220G>A (p.Val1074Ile)
c.2536G>A (p.Val846Ile)
n.3398G>A
n.4115G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95453552G>ACA5138162PTCH1c.3177C>T (p.Pro1059=)
c.3372C>T (p.Pro1124=)
c.*1683C>T (n.*1683C>T)
c.2922C>T (p.Pro974=)
n.706C>T
c.3375C>T (p.Pro1125=)
c.3144C>T (n.3144C>T)
c.3219C>T (p.Pro1073=)
c.2535C>T (p.Pro845=)
n.3397C>T
n.4114C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
9g.95453552G>CCA466107868PTCH1c.3177C>G (p.Pro1059=)
c.3372C>G (p.Pro1124=)
c.*1683C>G (n.*1683C>G)
c.2922C>G (p.Pro974=)
n.706C>G
c.3375C>G (p.Pro1125=)
c.3144C>G (n.3144C>G)
c.3219C>G (p.Pro1073=)
c.2535C>G (p.Pro845=)
n.3397C>G
n.4114C>G
 dbSNP gnomAD v2 gnomAD v4
9g.95453552G=CA1865583949PTCH1c.3177C= (p.Pro1059=)
c.3372C= (p.Pro1124=)
c.*1683C= (n.*1683C=)
c.2922C= (p.Pro974=)
n.706C=
c.3375C= (p.Pro1125=)
c.3144C= (n.3144C=)
c.3219C= (p.Pro1073=)
c.2535C= (p.Pro845=)
n.3397C=
n.4114C=
9g.95453552G>TCA466107870PTCH1c.3177C>A (p.Pro1059=)
c.3372C>A (p.Pro1124=)
c.*1683C>A (n.*1683C>A)
c.2922C>A (p.Pro974=)
n.706C>A
c.3375C>A (p.Pro1125=)
c.3144C>A (n.3144C>A)
c.3219C>A (p.Pro1073=)
c.2535C>A (p.Pro845=)
n.3397C>A
n.4114C>A
 ClinVar dbSNP gnomAD v4
9g.95453554delCA2695210757PTCH1c.3177del (p.Val1060SerfsTer13)
c.3372del (p.Val1125SerfsTer13)
c.*1683del (n.*1683del)
c.2922del (p.Val975SerfsTer13)
n.706del
c.3375del (p.Val1126SerfsTer13)
c.3144del (n.3144del)
c.3219del (p.Val1074SerfsTer13)
c.2535del (p.Val846SerfsTer13)
n.3397del
n.4114del
9g.95453553G>ACA374111795PTCH1c.3176C>T (p.Pro1059Leu)
c.3371C>T (p.Pro1124Leu)
c.*1682C>T (n.*1682C>T)
c.2921C>T (p.Pro974Leu)
n.705C>T
c.3374C>T (p.Pro1125Leu)
c.3143C>T (n.3143C>T)
c.3218C>T (p.Pro1073Leu)
c.2534C>T (p.Pro845Leu)
n.3396C>T
n.4113C>T
 dbSNP gnomAD v2 gnomAD v4
9g.95453553G>CCA374111796PTCH1c.3176C>G (p.Pro1059Arg)
c.3371C>G (p.Pro1124Arg)
c.*1682C>G (n.*1682C>G)
c.2921C>G (p.Pro974Arg)
n.705C>G
c.3374C>G (p.Pro1125Arg)
c.3143C>G (n.3143C>G)
c.3218C>G (p.Pro1073Arg)
c.2534C>G (p.Pro845Arg)
n.3396C>G
n.4113C>G
9g.95453553G=CA1865583962PTCH1c.3176C= (p.Pro1059=)
c.3371C= (p.Pro1124=)
c.*1682C= (n.*1682C=)
c.2921C= (p.Pro974=)
n.705C=
c.3374C= (p.Pro1125=)
c.3143C= (n.3143C=)
c.3218C= (p.Pro1073=)
c.2534C= (p.Pro845=)
n.3396C=
n.4113C=
9g.95453553G>TCA374111797PTCH1c.3176C>A (p.Pro1059His)
c.3371C>A (p.Pro1124His)
c.*1682C>A (n.*1682C>A)
c.2921C>A (p.Pro974His)
n.705C>A
c.3374C>A (p.Pro1125His)
c.3143C>A (n.3143C>A)
c.3218C>A (p.Pro1073His)
c.2534C>A (p.Pro845His)
n.3396C>A
n.4113C>A
9g.95453554G>ACA374111798PTCH1c.3175C>T (p.Pro1059Ser)
c.3370C>T (p.Pro1124Ser)
c.*1681C>T (n.*1681C>T)
c.2920C>T (p.Pro974Ser)
n.704C>T
c.3373C>T (p.Pro1125Ser)
c.3142C>T (n.3142C>T)
c.3217C>T (p.Pro1073Ser)
c.2533C>T (p.Pro845Ser)
n.3395C>T
n.4112C>T
 ClinVar dbSNP
9g.95453554G>CCA374111799PTCH1c.3175C>G (p.Pro1059Ala)
c.3370C>G (p.Pro1124Ala)
c.*1681C>G (n.*1681C>G)
c.2920C>G (p.Pro974Ala)
n.704C>G
c.3373C>G (p.Pro1125Ala)
c.3142C>G (n.3142C>G)
c.3217C>G (p.Pro1073Ala)
c.2533C>G (p.Pro845Ala)
n.3395C>G
n.4112C>G
 ClinVar dbSNP gnomAD v4
9g.95453554G>TCA374111800PTCH1c.3175C>A (p.Pro1059Thr)
c.3370C>A (p.Pro1124Thr)
c.*1681C>A (n.*1681C>A)
c.2920C>A (p.Pro974Thr)
n.704C>A
c.3373C>A (p.Pro1125Thr)
c.3142C>A (n.3142C>A)
c.3217C>A (p.Pro1073Thr)
c.2533C>A (p.Pro845Thr)
n.3395C>A
n.4112C>A
9g.95453558_95453567delCA2695210758PTCH1c.3166_3175del (p.Met1056ProfsTer14)
c.3361_3370del (p.Met1121ProfsTer14)
c.*1672_*1681del (n.*1672_*1681del)
c.2911_2920del (p.Met971ProfsTer14)
n.695_704del
c.3364_3373del (p.Met1122ProfsTer14)
c.3133_3142del (n.3133_3142del)
c.3208_3217del (p.Met1070ProfsTer14)
c.2524_2533del (p.Met842ProfsTer14)
n.3386_3395del
n.4103_4112del
9g.95453555delCA2580081160PTCH1c.3174del (p.Val1060SerfsTer13)
c.3369del (p.Val1125SerfsTer13)
c.*1680del (n.*1680del)
c.2919del (p.Val975SerfsTer13)
n.703del
c.3372del (p.Val1126SerfsTer13)
c.3141del (n.3141del)
c.3216del (p.Val1074SerfsTer13)
c.2532del (p.Val846SerfsTer13)
n.3394del
n.4111del
 ClinVar
9g.95453555T>ACA349550PTCH1c.3174A>T (p.Ala1058=)
c.3369A>T (p.Ala1123=)
c.*1680A>T (n.*1680A>T)
c.2919A>T (p.Ala973=)
n.703A>T
c.3372A>T (p.Ala1124=)
c.3141A>T (n.3141A>T)
c.3216A>T (p.Ala1072=)
c.2532A>T (p.Ala844=)
n.3394A>T
n.4111A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95453555T>CCA466107885PTCH1c.3174A>G (p.Ala1058=)
c.3369A>G (p.Ala1123=)
c.*1680A>G (n.*1680A>G)
c.2919A>G (p.Ala973=)
n.703A>G
c.3372A>G (p.Ala1124=)
c.3141A>G (n.3141A>G)
c.3216A>G (p.Ala1072=)
c.2532A>G (p.Ala844=)
n.3394A>G
n.4111A>G
9g.95453555T>GCA466107888PTCH1c.3174A>C (p.Ala1058=)
c.3369A>C (p.Ala1123=)
c.*1680A>C (n.*1680A>C)
c.2919A>C (p.Ala973=)
n.703A>C
c.3372A>C (p.Ala1124=)
c.3141A>C (n.3141A>C)
c.3216A>C (p.Ala1072=)
c.2532A>C (p.Ala844=)
n.3394A>C
n.4111A>C
9g.95453555T=CA1865583967PTCH1c.3174A= (p.Ala1058=)
c.3369A= (p.Ala1123=)
c.*1680A= (n.*1680A=)
c.2919A= (p.Ala973=)
n.703A=
c.3372A= (p.Ala1124=)
c.3141A= (n.3141A=)
c.3216A= (p.Ala1072=)
c.2532A= (p.Ala844=)
n.3394A=
n.4111A=
9g.95453556delCA2695210759PTCH1c.3173del (p.Ala1058AspfsTer15)
c.3368del (p.Ala1123AspfsTer15)
c.*1679del (n.*1679del)
c.2918del (p.Ala973AspfsTer15)
n.702del
c.3371del (p.Ala1124AspfsTer15)
c.3140del (n.3140del)
c.3215del (p.Ala1072AspfsTer15)
c.2531del (p.Ala844AspfsTer15)
n.3393del
n.4110del
9g.95453556G>ACA5138163PTCH1c.3173C>T (p.Ala1058Val)
c.3368C>T (p.Ala1123Val)
c.*1679C>T (n.*1679C>T)
c.2918C>T (p.Ala973Val)
n.702C>T
c.3371C>T (p.Ala1124Val)
c.3140C>T (n.3140C>T)
c.3215C>T (p.Ala1072Val)
c.2531C>T (p.Ala844Val)
n.3393C>T
n.4110C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95453556G>CCA374111801PTCH1c.3173C>G (p.Ala1058Gly)
c.3368C>G (p.Ala1123Gly)
c.*1679C>G (n.*1679C>G)
c.2918C>G (p.Ala973Gly)
n.702C>G
c.3371C>G (p.Ala1124Gly)
c.3140C>G (n.3140C>G)
c.3215C>G (p.Ala1072Gly)
c.2531C>G (p.Ala844Gly)
n.3393C>G
n.4110C>G
9g.95453556G=CA1865583969PTCH1c.3173C= (p.Ala1058=)
c.3368C= (p.Ala1123=)
c.*1679C= (n.*1679C=)
c.2918C= (p.Ala973=)
n.702C=
c.3371C= (p.Ala1124=)
c.3140C= (n.3140C=)
c.3215C= (p.Ala1072=)
c.2531C= (p.Ala844=)
n.3393C=
n.4110C=
9g.95453556G>TCA374111802PTCH1c.3173C>A (p.Ala1058Glu)
c.3368C>A (p.Ala1123Glu)
c.*1679C>A (n.*1679C>A)
c.2918C>A (p.Ala973Glu)
n.702C>A
c.3371C>A (p.Ala1124Glu)
c.3140C>A (n.3140C>A)
c.3215C>A (p.Ala1072Glu)
c.2531C>A (p.Ala844Glu)
n.3393C>A
n.4110C>A
9g.95453557C>ACA374111805PTCH1c.3172G>T (p.Ala1058Ser)
c.3367G>T (p.Ala1123Ser)
c.*1678G>T (n.*1678G>T)
c.2917G>T (p.Ala973Ser)
n.701G>T
c.3370G>T (p.Ala1124Ser)
c.3139G>T (n.3139G>T)
c.3214G>T (p.Ala1072Ser)
c.2530G>T (p.Ala844Ser)
n.3392G>T
n.4109G>T
9g.95453557C>GCA374111804PTCH1c.3172G>C (p.Ala1058Pro)
c.3367G>C (p.Ala1123Pro)
c.*1678G>C (n.*1678G>C)
c.2917G>C (p.Ala973Pro)
n.701G>C
c.3370G>C (p.Ala1124Pro)
c.3139G>C (n.3139G>C)
c.3214G>C (p.Ala1072Pro)
c.2530G>C (p.Ala844Pro)
n.3392G>C
n.4109G>C
9g.95453557C>TCA374111803PTCH1c.3172G>A (p.Ala1058Thr)
c.3367G>A (p.Ala1123Thr)
c.*1678G>A (n.*1678G>A)
c.2917G>A (p.Ala973Thr)
n.701G>A
c.3370G>A (p.Ala1124Thr)
c.3139G>A (n.3139G>A)
c.3214G>A (p.Ala1072Thr)
c.2530G>A (p.Ala844Thr)
n.3392G>A
n.4109G>A
 dbSNP
9g.95453558A>CCA374111806PTCH1c.3171T>G (p.Phe1057Leu)
c.3366T>G (p.Phe1122Leu)
c.*1677T>G (n.*1677T>G)
c.2916T>G (p.Phe972Leu)
n.700T>G
c.3369T>G (p.Phe1123Leu)
c.3138T>G (n.3138T>G)
c.3213T>G (p.Phe1071Leu)
c.2529T>G (p.Phe843Leu)
n.3391T>G
n.4108T>G
9g.95453558A>GCA466107904PTCH1c.3171T>C (p.Phe1057=)
c.3366T>C (p.Phe1122=)
c.*1677T>C (n.*1677T>C)
c.2916T>C (p.Phe972=)
n.700T>C
c.3369T>C (p.Phe1123=)
c.3138T>C (n.3138T>C)
c.3213T>C (p.Phe1071=)
c.2529T>C (p.Phe843=)
n.3391T>C
n.4108T>C
 ClinVar dbSNP
9g.95453558A>TCA374111807PTCH1c.3171T>A (p.Phe1057Leu)
c.3366T>A (p.Phe1122Leu)
c.*1677T>A (n.*1677T>A)
c.2916T>A (p.Phe972Leu)
n.700T>A
c.3369T>A (p.Phe1123Leu)
c.3138T>A (n.3138T>A)
c.3213T>A (p.Phe1071Leu)
c.2529T>A (p.Phe843Leu)
n.3391T>A
n.4108T>A
9g.95453559A>CCA374111808PTCH1c.3170T>G (p.Phe1057Cys)
c.3365T>G (p.Phe1122Cys)
c.*1676T>G (n.*1676T>G)
c.2915T>G (p.Phe972Cys)
n.699T>G
c.3368T>G (p.Phe1123Cys)
c.3137T>G (n.3137T>G)
c.3212T>G (p.Phe1071Cys)
c.2528T>G (p.Phe843Cys)
n.3390T>G
n.4107T>G
9g.95453559A>GCA374111809PTCH1c.3170T>C (p.Phe1057Ser)
c.3365T>C (p.Phe1122Ser)
c.*1676T>C (n.*1676T>C)
c.2915T>C (p.Phe972Ser)
n.699T>C
c.3368T>C (p.Phe1123Ser)
c.3137T>C (n.3137T>C)
c.3212T>C (p.Phe1071Ser)
c.2528T>C (p.Phe843Ser)
n.3390T>C
n.4107T>C
9g.95453559A>TCA374111810PTCH1c.3170T>A (p.Phe1057Tyr)
c.3365T>A (p.Phe1122Tyr)
c.*1676T>A (n.*1676T>A)
c.2915T>A (p.Phe972Tyr)
n.699T>A
c.3368T>A (p.Phe1123Tyr)
c.3137T>A (n.3137T>A)
c.3212T>A (p.Phe1071Tyr)
c.2528T>A (p.Phe843Tyr)
n.3390T>A
n.4107T>A
9g.95453560A>CCA374111811PTCH1c.3169T>G (p.Phe1057Val)
c.3364T>G (p.Phe1122Val)
c.*1675T>G (n.*1675T>G)
c.2914T>G (p.Phe972Val)
n.698T>G
c.3367T>G (p.Phe1123Val)
c.3136T>G (n.3136T>G)
c.3211T>G (p.Phe1071Val)
c.2527T>G (p.Phe843Val)
n.3389T>G
n.4106T>G
9g.95453560A>GCA374111812PTCH1c.3169T>C (p.Phe1057Leu)
c.3364T>C (p.Phe1122Leu)
c.*1675T>C (n.*1675T>C)
c.2914T>C (p.Phe972Leu)
n.698T>C
c.3367T>C (p.Phe1123Leu)
c.3136T>C (n.3136T>C)
c.3211T>C (p.Phe1071Leu)
c.2527T>C (p.Phe843Leu)
n.3389T>C
n.4106T>C
9g.95453560A>TCA374111813PTCH1c.3169T>A (p.Phe1057Ile)
c.3364T>A (p.Phe1122Ile)
c.*1675T>A (n.*1675T>A)
c.2914T>A (p.Phe972Ile)
n.698T>A
c.3367T>A (p.Phe1123Ile)
c.3136T>A (n.3136T>A)
c.3211T>A (p.Phe1071Ile)
c.2527T>A (p.Phe843Ile)
n.3389T>A
n.4106T>A
9g.95453561C>ACA374111814PTCH1c.3168G>T (p.Met1056Ile)
c.3363G>T (p.Met1121Ile)
c.*1674G>T (n.*1674G>T)
c.2913G>T (p.Met971Ile)
n.697G>T
c.3366G>T (p.Met1122Ile)
c.3135G>T (n.3135G>T)
c.3210G>T (p.Met1070Ile)
c.2526G>T (p.Met842Ile)
n.3388G>T
n.4105G>T
 dbSNP
9g.95453561C>GCA374111815PTCH1c.3168G>C (p.Met1056Ile)
c.3363G>C (p.Met1121Ile)
c.*1674G>C (n.*1674G>C)
c.2913G>C (p.Met971Ile)
n.697G>C
c.3366G>C (p.Met1122Ile)
c.3135G>C (n.3135G>C)
c.3210G>C (p.Met1070Ile)
c.2526G>C (p.Met842Ile)
n.3388G>C
n.4105G>C
9g.95453561C>TCA374111816PTCH1c.3168G>A (p.Met1056Ile)
c.3363G>A (p.Met1121Ile)
c.*1674G>A (n.*1674G>A)
c.2913G>A (p.Met971Ile)
n.697G>A
c.3366G>A (p.Met1122Ile)
c.3135G>A (n.3135G>A)
c.3210G>A (p.Met1070Ile)
c.2526G>A (p.Met842Ile)
n.3388G>A
n.4105G>A
9g.95453561_95453563delinsCATCA1865583974PTCH1c.3166_3168delinsATG (p.Met1056=)
c.3361_3363delinsATG (p.Met1121=)
c.*1672_*1674delinsATG (n.*1672_*1674delinsATG)
c.2911_2913delinsATG (p.Met971=)
n.695_697delinsATG
c.3364_3366delinsATG (p.Met1122=)
c.3133_3135delinsATG (n.3133_3135delinsATG)
c.3208_3210delinsATG (p.Met1070=)
c.2524_2526delinsATG (p.Met842=)
n.3386_3388delinsATG
n.4103_4105delinsATG
9g.95453562A=CA1865583987PTCH1c.3167T= (p.Met1056=)
c.3362T= (p.Met1121=)
c.*1673T= (n.*1673T=)
c.2912T= (p.Met971=)
n.696T=
c.3365T= (p.Met1122=)
c.3134T= (n.3134T=)
c.3209T= (p.Met1070=)
c.2525T= (p.Met842=)
n.3387T=
n.4104T=
9g.95453562A>CCA374111818PTCH1c.3167T>G (p.Met1056Arg)
c.3362T>G (p.Met1121Arg)
c.*1673T>G (n.*1673T>G)
c.2912T>G (p.Met971Arg)
n.696T>G
c.3365T>G (p.Met1122Arg)
c.3134T>G (n.3134T>G)
c.3209T>G (p.Met1070Arg)
c.2525T>G (p.Met842Arg)
n.3387T>G
n.4104T>G
9g.95453562A>GCA374111817PTCH1c.3167T>C (p.Met1056Thr)
c.3362T>C (p.Met1121Thr)
c.*1673T>C (n.*1673T>C)
c.2912T>C (p.Met971Thr)
n.696T>C
c.3365T>C (p.Met1122Thr)
c.3134T>C (n.3134T>C)
c.3209T>C (p.Met1070Thr)
c.2525T>C (p.Met842Thr)
n.3387T>C
n.4104T>C
 ClinVar gnomAD v4
9g.95453562A>TCA196571104PTCH1c.3167T>A (p.Met1056Lys)
c.3362T>A (p.Met1121Lys)
c.*1673T>A (n.*1673T>A)
c.2912T>A (p.Met971Lys)
n.696T>A
c.3365T>A (p.Met1122Lys)
c.3134T>A (n.3134T>A)
c.3209T>A (p.Met1070Lys)
c.2525T>A (p.Met842Lys)
n.3387T>A
n.4104T>A
 ClinVar dbSNP gnomAD v4
9g.95453562_95453563delCA16612827PTCH1c.3166_3167del (p.Met1056ValfsTer22)
c.3361_3362del (p.Met1121ValfsTer22)
c.*1672_*1673del (n.*1672_*1673del)
c.2911_2912del (p.Met971ValfsTer22)
n.695_696del
c.3364_3365del (p.Met1122ValfsTer22)
c.3133_3134del (n.3133_3134del)
c.3208_3209del (p.Met1070ValfsTer22)
c.2524_2525del (p.Met842ValfsTer22)
n.3386_3387del
n.4103_4104del
 ClinVar dbSNP
9g.95453563T>ACA374111819PTCH1c.3166A>T (p.Met1056Leu)
c.3361A>T (p.Met1121Leu)
c.*1672A>T (n.*1672A>T)
c.2911A>T (p.Met971Leu)
n.695A>T
c.3364A>T (p.Met1122Leu)
c.3133A>T (n.3133A>T)
c.3208A>T (p.Met1070Leu)
c.2524A>T (p.Met842Leu)
n.3386A>T
n.4103A>T
9g.95453563T>CCA374111821PTCH1c.3166A>G (p.Met1056Val)
c.3361A>G (p.Met1121Val)
c.*1672A>G (n.*1672A>G)
c.2911A>G (p.Met971Val)
n.695A>G
c.3364A>G (p.Met1122Val)
c.3133A>G (n.3133A>G)
c.3208A>G (p.Met1070Val)
c.2524A>G (p.Met842Val)
n.3386A>G
n.4103A>G
 ClinVar dbSNP gnomAD v4
9g.95453563T>GCA374111820PTCH1c.3166A>C (p.Met1056Leu)
c.3361A>C (p.Met1121Leu)
c.*1672A>C (n.*1672A>C)
c.2911A>C (p.Met971Leu)
n.695A>C
c.3364A>C (p.Met1122Leu)
c.3133A>C (n.3133A>C)
c.3208A>C (p.Met1070Leu)
c.2524A>C (p.Met842Leu)
n.3386A>C
n.4103A>C
9g.95453563T=CA1865583996PTCH1c.3166A= (p.Met1056=)
c.3361A= (p.Met1121=)
c.*1672A= (n.*1672A=)
c.2911A= (p.Met971=)
n.695A=
c.3364A= (p.Met1122=)
c.3133A= (n.3133A=)
c.3208A= (p.Met1070=)
c.2524A= (p.Met842=)
n.3386A=
n.4103A=
9g.95453563_95453564delinsTGCA1865584002PTCH1c.3165_3166delinsCA (p.His1055=)
c.3360_3361delinsCA (p.His1120=)
c.*1671_*1672delinsCA (n.*1671_*1672delinsCA)
c.2910_2911delinsCA (p.His970=)
n.694_695delinsCA
c.3363_3364delinsCA (p.His1121=)
c.3132_3133delinsCA (n.3132_3133delinsCA)
c.3207_3208delinsCA (p.His1069=)
c.2523_2524delinsCA (p.His841=)
n.3385_3386delinsCA
n.4102_4103delinsCA
9g.95453564delCA1139661041PTCH1c.3165del (p.His1055GlnfsTer18)
c.3360del (p.His1120GlnfsTer18)
c.*1671del (n.*1671del)
c.2910del (p.His970GlnfsTer18)
n.694del
c.3363del (p.His1121GlnfsTer18)
c.3132del (n.3132del)
c.3207del (p.His1069GlnfsTer18)
c.2523del (p.His841GlnfsTer18)
n.3385del
n.4102del
 ClinVar dbSNP
9g.95453564G>ACA466107935PTCH1c.3165C>T (p.His1055=)
c.3360C>T (p.His1120=)
c.*1671C>T (n.*1671C>T)
c.2910C>T (p.His970=)
n.694C>T
c.3363C>T (p.His1121=)
c.3132C>T (n.3132C>T)
c.3207C>T (p.His1069=)
c.2523C>T (p.His841=)
n.3385C>T
n.4102C>T
 ClinVar gnomAD v4
9g.95453564G>CCA374111822PTCH1c.3165C>G (p.His1055Gln)
c.3360C>G (p.His1120Gln)
c.*1671C>G (n.*1671C>G)
c.2910C>G (p.His970Gln)
n.694C>G
c.3363C>G (p.His1121Gln)
c.3132C>G (n.3132C>G)
c.3207C>G (p.His1069Gln)
c.2523C>G (p.His841Gln)
n.3385C>G
n.4102C>G
 dbSNP
9g.95453564G>TCA374111823PTCH1c.3165C>A (p.His1055Gln)
c.3360C>A (p.His1120Gln)
c.*1671C>A (n.*1671C>A)
c.2910C>A (p.His970Gln)
n.694C>A
c.3363C>A (p.His1121Gln)
c.3132C>A (n.3132C>A)
c.3207C>A (p.His1069Gln)
c.2523C>A (p.His841Gln)
n.3385C>A
n.4102C>A
9g.95453565T>ACA374111824PTCH1c.3164A>T (p.His1055Leu)
c.3359A>T (p.His1120Leu)
c.*1670A>T (n.*1670A>T)
c.2909A>T (p.His970Leu)
n.693A>T
c.3362A>T (p.His1121Leu)
c.3131A>T (n.3131A>T)
c.3206A>T (p.His1069Leu)
c.2522A>T (p.His841Leu)
n.3384A>T
n.4101A>T
 ClinVar dbSNP
9g.95453565T>CCA374111825PTCH1c.3164A>G (p.His1055Arg)
c.3359A>G (p.His1120Arg)
c.*1670A>G (n.*1670A>G)
c.2909A>G (p.His970Arg)
n.693A>G
c.3362A>G (p.His1121Arg)
c.3131A>G (n.3131A>G)
c.3206A>G (p.His1069Arg)
c.2522A>G (p.His841Arg)
n.3384A>G
n.4101A>G
 ClinVar dbSNP
9g.95453565T>GCA374111826PTCH1c.3164A>C (p.His1055Pro)
c.3359A>C (p.His1120Pro)
c.*1670A>C (n.*1670A>C)
c.2909A>C (p.His970Pro)
n.693A>C
c.3362A>C (p.His1121Pro)
c.3131A>C (n.3131A>C)
c.3206A>C (p.His1069Pro)
c.2522A>C (p.His841Pro)
n.3384A>C
n.4101A>C
9g.95453565T=CA1865584012PTCH1c.3164A= (p.His1055=)
c.3359A= (p.His1120=)
c.*1670A= (n.*1670A=)
c.2909A= (p.His970=)
n.693A=
c.3362A= (p.His1121=)
c.3131A= (n.3131A=)
c.3206A= (p.His1069=)
c.2522A= (p.His841=)
n.3384A=
n.4101A=
9g.95453566G>ACA374111827PTCH1c.3163C>T (p.His1055Tyr)
c.3358C>T (p.His1120Tyr)
c.*1669C>T (n.*1669C>T)
c.2908C>T (p.His970Tyr)
n.692C>T
c.3361C>T (p.His1121Tyr)
c.3130C>T (n.3130C>T)
c.3205C>T (p.His1069Tyr)
c.2521C>T (p.His841Tyr)
n.3383C>T
n.4100C>T
9g.95453566G>CCA374111828PTCH1c.3163C>G (p.His1055Asp)
c.3358C>G (p.His1120Asp)
c.*1669C>G (n.*1669C>G)
c.2908C>G (p.His970Asp)
n.692C>G
c.3361C>G (p.His1121Asp)
c.3130C>G (n.3130C>G)
c.3205C>G (p.His1069Asp)
c.2521C>G (p.His841Asp)
n.3383C>G
n.4100C>G
9g.95453566G>TCA374111829PTCH1c.3163C>A (p.His1055Asn)
c.3358C>A (p.His1120Asn)
c.*1669C>A (n.*1669C>A)
c.2908C>A (p.His970Asn)
n.692C>A
c.3361C>A (p.His1121Asn)
c.3130C>A (n.3130C>A)
c.3205C>A (p.His1069Asn)
c.2521C>A (p.His841Asn)
n.3383C>A
n.4100C>A
9g.95453567C>ACA374111830PTCH1c.3162G>T (p.Glu1054Asp)
c.3357G>T (p.Glu1119Asp)
c.*1668G>T (n.*1668G>T)
c.2907G>T (p.Glu969Asp)
n.691G>T
c.3360G>T (p.Glu1120Asp)
c.3129G>T (n.3129G>T)
c.3204G>T (p.Glu1068Asp)
c.2520G>T (p.Glu840Asp)
n.3382G>T
n.4099G>T
9g.95453567C=CA1865584022PTCH1c.3162G= (p.Glu1054=)
c.3357G= (p.Glu1119=)
c.*1668G= (n.*1668G=)
c.2907G= (p.Glu969=)
n.691G=
c.3360G= (p.Glu1120=)
c.3129G= (n.3129G=)
c.3204G= (p.Glu1068=)
c.2520G= (p.Glu840=)
n.3382G=
n.4099G=
9g.95453567C>GCA374111831PTCH1c.3162G>C (p.Glu1054Asp)
c.3357G>C (p.Glu1119Asp)
c.*1668G>C (n.*1668G>C)
c.2907G>C (p.Glu969Asp)
n.691G>C
c.3360G>C (p.Glu1120Asp)
c.3129G>C (n.3129G>C)
c.3204G>C (p.Glu1068Asp)
c.2520G>C (p.Glu840Asp)
n.3382G>C
n.4099G>C
9g.95453567C>TCA466107952PTCH1c.3162G>A (p.Glu1054=)
c.3357G>A (p.Glu1119=)
c.*1668G>A (n.*1668G>A)
c.2907G>A (p.Glu969=)
n.691G>A
c.3360G>A (p.Glu1120=)
c.3129G>A (n.3129G>A)
c.3204G>A (p.Glu1068=)
c.2520G>A (p.Glu840=)
n.3382G>A
n.4099G>A
 ClinVar dbSNP gnomAD v4
9g.95453568T>ACA374111834PTCH1c.3161A>T (p.Glu1054Val)
c.3356A>T (p.Glu1119Val)
c.*1667A>T (n.*1667A>T)
c.2906A>T (p.Glu969Val)
n.690A>T
c.3359A>T (p.Glu1120Val)
c.3128A>T (n.3128A>T)
c.3203A>T (p.Glu1068Val)
c.2519A>T (p.Glu840Val)
n.3381A>T
n.4098A>T
9g.95453568T>CCA374111833PTCH1c.3161A>G (p.Glu1054Gly)
c.3356A>G (p.Glu1119Gly)
c.*1667A>G (n.*1667A>G)
c.2906A>G (p.Glu969Gly)
n.690A>G
c.3359A>G (p.Glu1120Gly)
c.3128A>G (n.3128A>G)
c.3203A>G (p.Glu1068Gly)
c.2519A>G (p.Glu840Gly)
n.3381A>G
n.4098A>G
9g.95453568T>GCA374111832PTCH1c.3161A>C (p.Glu1054Ala)
c.3356A>C (p.Glu1119Ala)
c.*1667A>C (n.*1667A>C)
c.2906A>C (p.Glu969Ala)
n.690A>C
c.3359A>C (p.Glu1120Ala)
c.3128A>C (n.3128A>C)
c.3203A>C (p.Glu1068Ala)
c.2519A>C (p.Glu840Ala)
n.3381A>C
n.4098A>C
9g.95453569C>ACA374111835PTCH1c.3160G>T (p.Glu1054Ter)
c.3355G>T (p.Glu1119Ter)
c.*1666G>T (n.*1666G>T)
c.2905G>T (p.Glu969Ter)
n.689G>T
c.3358G>T (p.Glu1120Ter)
c.3127G>T (n.3127G>T)
c.3202G>T (p.Glu1068Ter)
c.2518G>T (p.Glu840Ter)
n.3380G>T
n.4097G>T
9g.95453569C=CA1865584027PTCH1c.3160G= (p.Glu1054=)
c.3355G= (p.Glu1119=)
c.*1666G= (n.*1666G=)
c.2905G= (p.Glu969=)
n.689G=
c.3358G= (p.Glu1120=)
c.3127G= (n.3127G=)
c.3202G= (p.Glu1068=)
c.2518G= (p.Glu840=)
n.3380G=
n.4097G=
9g.95453569C>GCA374111836PTCH1c.3160G>C (p.Glu1054Gln)
c.3355G>C (p.Glu1119Gln)
c.*1666G>C (n.*1666G>C)
c.2905G>C (p.Glu969Gln)
n.689G>C
c.3358G>C (p.Glu1120Gln)
c.3127G>C (n.3127G>C)
c.3202G>C (p.Glu1068Gln)
c.2518G>C (p.Glu840Gln)
n.3380G>C
n.4097G>C
9g.95453569C>TCA374111837PTCH1c.3160G>A (p.Glu1054Lys)
c.3355G>A (p.Glu1119Lys)
c.*1666G>A (n.*1666G>A)
c.2905G>A (p.Glu969Lys)
n.689G>A
c.3358G>A (p.Glu1120Lys)
c.3127G>A (n.3127G>A)
c.3202G>A (p.Glu1068Lys)
c.2518G>A (p.Glu840Lys)
n.3380G>A
n.4097G>A
 ClinVar dbSNP
9g.95453570delCA2740095531PTCH1c.3160del (p.Glu1054SerfsTer19)
c.3355del (p.Glu1119SerfsTer19)
c.*1666del (n.*1666del)
c.2905del (p.Glu969SerfsTer19)
n.689del
c.3358del (p.Glu1120SerfsTer19)
c.3127del (n.3127del)
c.3202del (p.Glu1068SerfsTer19)
c.2518del (p.Glu840SerfsTer19)
n.3380del
n.4097del
 ClinVar
9g.95453570C>ACA466107967PTCH1c.3159G>T (p.Leu1053=)
c.3354G>T (p.Leu1118=)
c.*1665G>T (n.*1665G>T)
c.2904G>T (p.Leu968=)
n.688G>T
c.3357G>T (p.Leu1119=)
c.3126G>T (n.3126G>T)
c.3201G>T (p.Leu1067=)
c.2517G>T (p.Leu839=)
n.3379G>T
n.4096G>T
9g.95453570C=CA1865584036PTCH1c.3159G= (p.Leu1053=)
c.3354G= (p.Leu1118=)
c.*1665G= (n.*1665G=)
c.2904G= (p.Leu968=)
n.688G=
c.3357G= (p.Leu1119=)
c.3126G= (n.3126G=)
c.3201G= (p.Leu1067=)
c.2517G= (p.Leu839=)
n.3379G=
n.4096G=
9g.95453570C>GCA466107969PTCH1c.3159G>C (p.Leu1053=)
c.3354G>C (p.Leu1118=)
c.*1665G>C (n.*1665G>C)
c.2904G>C (p.Leu968=)
n.688G>C
c.3357G>C (p.Leu1119=)
c.3126G>C (n.3126G>C)
c.3201G>C (p.Leu1067=)
c.2517G>C (p.Leu839=)
n.3379G>C
n.4096G>C
9g.95453570C>TCA466107972PTCH1c.3159G>A (p.Leu1053=)
c.3354G>A (p.Leu1118=)
c.*1665G>A (n.*1665G>A)
c.2904G>A (p.Leu968=)
n.688G>A
c.3357G>A (p.Leu1119=)
c.3126G>A (n.3126G>A)
c.3201G>A (p.Leu1067=)
c.2517G>A (p.Leu839=)
n.3379G>A
n.4096G>A
 ClinVar dbSNP
9g.95453571A>CCA374111838PTCH1c.3158T>G (p.Leu1053Arg)
c.3353T>G (p.Leu1118Arg)
c.*1664T>G (n.*1664T>G)
c.2903T>G (p.Leu968Arg)
n.687T>G
c.3356T>G (p.Leu1119Arg)
c.3125T>G (n.3125T>G)
c.3200T>G (p.Leu1067Arg)
c.2516T>G (p.Leu839Arg)
n.3378T>G
n.4095T>G
9g.95453571A>GCA374111839PTCH1c.3158T>C (p.Leu1053Pro)
c.3353T>C (p.Leu1118Pro)
c.*1664T>C (n.*1664T>C)
c.2903T>C (p.Leu968Pro)
n.687T>C
c.3356T>C (p.Leu1119Pro)
c.3125T>C (n.3125T>C)
c.3200T>C (p.Leu1067Pro)
c.2516T>C (p.Leu839Pro)
n.3378T>C
n.4095T>C
9g.95453571A>TCA374111840PTCH1c.3158T>A (p.Leu1053Gln)
c.3353T>A (p.Leu1118Gln)
c.*1664T>A (n.*1664T>A)
c.2903T>A (p.Leu968Gln)
n.687T>A
c.3356T>A (p.Leu1119Gln)
c.3125T>A (n.3125T>A)
c.3200T>A (p.Leu1067Gln)
c.2516T>A (p.Leu839Gln)
n.3378T>A
n.4095T>A
 COSMIC COSMIC COSMIC COSMIC
9g.95453572G>ACA466107981PTCH1c.3157C>T (p.Leu1053=)
c.3352C>T (p.Leu1118=)
c.*1663C>T (n.*1663C>T)
c.2902C>T (p.Leu968=)
n.686C>T
c.3355C>T (p.Leu1119=)
c.3124C>T (n.3124C>T)
c.3199C>T (p.Leu1067=)
c.2515C>T (p.Leu839=)
n.3377C>T
n.4094C>T
 ClinVar
9g.95453572G>CCA374111841PTCH1c.3157C>G (p.Leu1053Val)
c.3352C>G (p.Leu1118Val)
c.*1663C>G (n.*1663C>G)
c.2902C>G (p.Leu968Val)
n.686C>G
c.3355C>G (p.Leu1119Val)
c.3124C>G (n.3124C>G)
c.3199C>G (p.Leu1067Val)
c.2515C>G (p.Leu839Val)
n.3377C>G
n.4094C>G
 ClinVar
9g.95453572G>TCA374111842PTCH1c.3157C>A (p.Leu1053Met)
c.3352C>A (p.Leu1118Met)
c.*1663C>A (n.*1663C>A)
c.2902C>A (p.Leu968Met)
n.686C>A
c.3355C>A (p.Leu1119Met)
c.3124C>A (n.3124C>A)
c.3199C>A (p.Leu1067Met)
c.2515C>A (p.Leu839Met)
n.3377C>A
n.4094C>A
9g.95453573G>ACA466107988PTCH1c.3156C>T (p.Ala1052=)
c.3351C>T (p.Ala1117=)
c.*1662C>T (n.*1662C>T)
c.2901C>T (p.Ala967=)
n.685C>T
c.3354C>T (p.Ala1118=)
c.3123C>T (n.3123C>T)
c.3198C>T (p.Ala1066=)
c.2514C>T (p.Ala838=)
n.3376C>T
n.4093C>T
9g.95453573G>CCA466107990PTCH1c.3156C>G (p.Ala1052=)
c.3351C>G (p.Ala1117=)
c.*1662C>G (n.*1662C>G)
c.2901C>G (p.Ala967=)
n.685C>G
c.3354C>G (p.Ala1118=)
c.3123C>G (n.3123C>G)
c.3198C>G (p.Ala1066=)
c.2514C>G (p.Ala838=)
n.3376C>G
n.4093C>G
 ClinVar dbSNP
9g.95453573G=CA1865584041PTCH1c.3156C= (p.Ala1052=)
c.3351C= (p.Ala1117=)
c.*1662C= (n.*1662C=)
c.2901C= (p.Ala967=)
n.685C=
c.3354C= (p.Ala1118=)
c.3123C= (n.3123C=)
c.3198C= (p.Ala1066=)
c.2514C= (p.Ala838=)
n.3376C=
n.4093C=
9g.95453573G>TCA466107992PTCH1c.3156C>A (p.Ala1052=)
c.3351C>A (p.Ala1117=)
c.*1662C>A (n.*1662C>A)
c.2901C>A (p.Ala967=)
n.685C>A
c.3354C>A (p.Ala1118=)
c.3123C>A (n.3123C>A)
c.3198C>A (p.Ala1066=)
c.2514C>A (p.Ala838=)
n.3376C>A
n.4093C>A
 gnomAD v4
9g.95453574G>ACA374111843PTCH1c.3155C>T (p.Ala1052Val)
c.3350C>T (p.Ala1117Val)
c.*1661C>T (n.*1661C>T)
c.2900C>T (p.Ala967Val)
n.684C>T
c.3353C>T (p.Ala1118Val)
c.3122C>T (n.3122C>T)
c.3197C>T (p.Ala1066Val)
c.2513C>T (p.Ala838Val)
n.3375C>T
n.4092C>T
 dbSNP
9g.95453574G>CCA374111844PTCH1c.3155C>G (p.Ala1052Gly)
c.3350C>G (p.Ala1117Gly)
c.*1661C>G (n.*1661C>G)
c.2900C>G (p.Ala967Gly)
n.684C>G
c.3353C>G (p.Ala1118Gly)
c.3122C>G (n.3122C>G)
c.3197C>G (p.Ala1066Gly)
c.2513C>G (p.Ala838Gly)
n.3375C>G
n.4092C>G
9g.95453574G>TCA374111845PTCH1c.3155C>A (p.Ala1052Asp)
c.3350C>A (p.Ala1117Asp)
c.*1661C>A (n.*1661C>A)
c.2900C>A (p.Ala967Asp)
n.684C>A
c.3353C>A (p.Ala1118Asp)
c.3122C>A (n.3122C>A)
c.3197C>A (p.Ala1066Asp)
c.2513C>A (p.Ala838Asp)
n.3375C>A
n.4092C>A
9g.95453575C>ACA5138164PTCH1c.3154G>T (p.Ala1052Ser)
c.3349G>T (p.Ala1117Ser)
c.*1660G>T (n.*1660G>T)
c.2899G>T (p.Ala967Ser)
n.683G>T
c.3352G>T (p.Ala1118Ser)
c.3121G>T (n.3121G>T)
c.3196G>T (p.Ala1066Ser)
c.2512G>T (p.Ala838Ser)
n.3374G>T
n.4091G>T
 ClinVar dbSNP ExAC gnomAD v2
9g.95453575C=CA1865584051PTCH1c.3154G= (p.Ala1052=)
c.3349G= (p.Ala1117=)
c.*1660G= (n.*1660G=)
c.2899G= (p.Ala967=)
n.683G=
c.3352G= (p.Ala1118=)
c.3121G= (n.3121G=)
c.3196G= (p.Ala1066=)
c.2512G= (p.Ala838=)
n.3374G=
n.4091G=
9g.95453575C>GCA374111847PTCH1c.3154G>C (p.Ala1052Pro)
c.3349G>C (p.Ala1117Pro)
c.*1660G>C (n.*1660G>C)
c.2899G>C (p.Ala967Pro)
n.683G>C
c.3352G>C (p.Ala1118Pro)
c.3121G>C (n.3121G>C)
c.3196G>C (p.Ala1066Pro)
c.2512G>C (p.Ala838Pro)
n.3374G>C
n.4091G>C
 dbSNP
9g.95453575C>TCA374111846PTCH1c.3154G>A (p.Ala1052Thr)
c.3349G>A (p.Ala1117Thr)
c.*1660G>A (n.*1660G>A)
c.2899G>A (p.Ala967Thr)
n.683G>A
c.3352G>A (p.Ala1118Thr)
c.3121G>A (n.3121G>A)
c.3196G>A (p.Ala1066Thr)
c.2512G>A (p.Ala838Thr)
n.3374G>A
n.4091G>A
 dbSNP
9g.95453576A>CCA466108004PTCH1c.3153T>G (p.Leu1051=)
c.3348T>G (p.Leu1116=)
c.*1659T>G (n.*1659T>G)
c.2898T>G (p.Leu966=)
n.682T>G
c.3351T>G (p.Leu1117=)
c.3120T>G (n.3120T>G)
c.3195T>G (p.Leu1065=)
c.2511T>G (p.Leu837=)
n.3373T>G
n.4090T>G
9g.95453576A>GCA466108006PTCH1c.3153T>C (p.Leu1051=)
c.3348T>C (p.Leu1116=)
c.*1659T>C (n.*1659T>C)
c.2898T>C (p.Leu966=)
n.682T>C
c.3351T>C (p.Leu1117=)
c.3120T>C (n.3120T>C)
c.3195T>C (p.Leu1065=)
c.2511T>C (p.Leu837=)
n.3373T>C
n.4090T>C
 ClinVar
9g.95453576A>TCA466108008PTCH1c.3153T>A (p.Leu1051=)
c.3348T>A (p.Leu1116=)
c.*1659T>A (n.*1659T>A)
c.2898T>A (p.Leu966=)
n.682T>A
c.3351T>A (p.Leu1117=)
c.3120T>A (n.3120T>A)
c.3195T>A (p.Leu1065=)
c.2511T>A (p.Leu837=)
n.3373T>A
n.4090T>A
9g.95453577A>CCA374111848PTCH1c.3152T>G (p.Leu1051Arg)
c.3347T>G (p.Leu1116Arg)
c.*1658T>G (n.*1658T>G)
c.2897T>G (p.Leu966Arg)
n.681T>G
c.3350T>G (p.Leu1117Arg)
c.3119T>G (n.3119T>G)
c.3194T>G (p.Leu1065Arg)
c.2510T>G (p.Leu837Arg)
n.3372T>G
n.4089T>G
9g.95453577A>GCA374111849PTCH1c.3152T>C (p.Leu1051Pro)
c.3347T>C (p.Leu1116Pro)
c.*1658T>C (n.*1658T>C)
c.2897T>C (p.Leu966Pro)
n.681T>C
c.3350T>C (p.Leu1117Pro)
c.3119T>C (n.3119T>C)
c.3194T>C (p.Leu1065Pro)
c.2510T>C (p.Leu837Pro)
n.3372T>C
n.4089T>C
9g.95453577A>TCA374111850PTCH1c.3152T>A (p.Leu1051His)
c.3347T>A (p.Leu1116His)
c.*1658T>A (n.*1658T>A)
c.2897T>A (p.Leu966His)
n.681T>A
c.3350T>A (p.Leu1117His)
c.3119T>A (n.3119T>A)
c.3194T>A (p.Leu1065His)
c.2510T>A (p.Leu837His)
n.3372T>A
n.4089T>A
9g.95453578G>ACA374111851PTCH1c.3151C>T (p.Leu1051Phe)
c.3346C>T (p.Leu1116Phe)
c.*1657C>T (n.*1657C>T)
c.2896C>T (p.Leu966Phe)
n.680C>T
c.3349C>T (p.Leu1117Phe)
c.3118C>T (n.3118C>T)
c.3193C>T (p.Leu1065Phe)
c.2509C>T (p.Leu837Phe)
n.3371C>T
n.4088C>T
 dbSNP gnomAD v2 COSMIC COSMIC COSMIC COSMIC
9g.95453578G>CCA374111852PTCH1c.3151C>G (p.Leu1051Val)
c.3346C>G (p.Leu1116Val)
c.*1657C>G (n.*1657C>G)
c.2896C>G (p.Leu966Val)
n.680C>G
c.3349C>G (p.Leu1117Val)
c.3118C>G (n.3118C>G)
c.3193C>G (p.Leu1065Val)
c.2509C>G (p.Leu837Val)
n.3371C>G
n.4088C>G
 ClinVar gnomAD v4
9g.95453578G=CA1865584058PTCH1c.3151C= (p.Leu1051=)
c.3346C= (p.Leu1116=)
c.*1657C= (n.*1657C=)
c.2896C= (p.Leu966=)
n.680C=
c.3349C= (p.Leu1117=)
c.3118C= (n.3118C=)
c.3193C= (p.Leu1065=)
c.2509C= (p.Leu837=)
n.3371C=
n.4088C=
9g.95453578G>TCA374111853PTCH1c.3151C>A (p.Leu1051Ile)
c.3346C>A (p.Leu1116Ile)
c.*1657C>A (n.*1657C>A)
c.2896C>A (p.Leu966Ile)
n.680C>A
c.3349C>A (p.Leu1117Ile)
c.3118C>A (n.3118C>A)
c.3193C>A (p.Leu1065Ile)
c.2509C>A (p.Leu837Ile)
n.3371C>A
n.4088C>A
9g.95453579C>ACA466108020PTCH1c.3150G>T (p.Val1050=)
c.3345G>T (p.Val1115=)
c.*1656G>T (n.*1656G>T)
c.2895G>T (p.Val965=)
n.679G>T
c.3348G>T (p.Val1116=)
c.3117G>T (n.3117G>T)
c.3192G>T (p.Val1064=)
c.2508G>T (p.Val836=)
n.3370G>T
n.4087G>T
9g.95453579C>GCA466108023PTCH1c.3150G>C (p.Val1050=)
c.3345G>C (p.Val1115=)
c.*1656G>C (n.*1656G>C)
c.2895G>C (p.Val965=)
n.679G>C
c.3348G>C (p.Val1116=)
c.3117G>C (n.3117G>C)
c.3192G>C (p.Val1064=)
c.2508G>C (p.Val836=)
n.3370G>C
n.4087G>C
9g.95453579C>TCA466108026PTCH1c.3150G>A (p.Val1050=)
c.3345G>A (p.Val1115=)
c.*1656G>A (n.*1656G>A)
c.2895G>A (p.Val965=)
n.679G>A
c.3348G>A (p.Val1116=)
c.3117G>A (n.3117G>A)
c.3192G>A (p.Val1064=)
c.2508G>A (p.Val836=)
n.3370G>A
n.4087G>A
 dbSNP
9g.95453580A=CA1865584063PTCH1c.3149T= (p.Val1050=)
c.3344T= (p.Val1115=)
c.*1655T= (n.*1655T=)
c.2894T= (p.Val965=)
n.678T=
c.3347T= (p.Val1116=)
c.3116T= (n.3116T=)
c.3191T= (p.Val1064=)
c.2507T= (p.Val836=)
n.3369T=
n.4086T=
9g.95453580A>CCA374111854PTCH1c.3149T>G (p.Val1050Gly)
c.3344T>G (p.Val1115Gly)
c.*1655T>G (n.*1655T>G)
c.2894T>G (p.Val965Gly)
n.678T>G
c.3347T>G (p.Val1116Gly)
c.3116T>G (n.3116T>G)
c.3191T>G (p.Val1064Gly)
c.2507T>G (p.Val836Gly)
n.3369T>G
n.4086T>G
9g.95453580A>GCA374111855PTCH1c.3149T>C (p.Val1050Ala)
c.3344T>C (p.Val1115Ala)
c.*1655T>C (n.*1655T>C)
c.2894T>C (p.Val965Ala)
n.678T>C
c.3347T>C (p.Val1116Ala)
c.3116T>C (n.3116T>C)
c.3191T>C (p.Val1064Ala)
c.2507T>C (p.Val836Ala)
n.3369T>C
n.4086T>C
9g.95453580A>TCA338689PTCH1c.3149T>A (p.Val1050Glu)
c.3344T>A (p.Val1115Glu)
c.*1655T>A (n.*1655T>A)
c.2894T>A (p.Val965Glu)
n.678T>A
c.3347T>A (p.Val1116Glu)
c.3116T>A (n.3116T>A)
c.3191T>A (p.Val1064Glu)
c.2507T>A (p.Val836Glu)
n.3369T>A
n.4086T>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.95453581C>ACA374111856PTCH1c.3148G>T (p.Val1050Leu)
c.3343G>T (p.Val1115Leu)
c.*1654G>T (n.*1654G>T)
c.2893G>T (p.Val965Leu)
n.677G>T
c.3346G>T (p.Val1116Leu)
c.3115G>T (n.3115G>T)
c.3190G>T (p.Val1064Leu)
c.2506G>T (p.Val836Leu)
n.3368G>T
n.4085G>T
 ClinVar
9g.95453581C=CA1865584070PTCH1c.3148G= (p.Val1050=)
c.3343G= (p.Val1115=)
c.*1654G= (n.*1654G=)
c.2893G= (p.Val965=)
n.677G=
c.3346G= (p.Val1116=)
c.3115G= (n.3115G=)
c.3190G= (p.Val1064=)
c.2506G= (p.Val836=)
n.3368G=
n.4085G=
9g.95453581C>GCA374111857PTCH1c.3148G>C (p.Val1050Leu)
c.3343G>C (p.Val1115Leu)
c.*1654G>C (n.*1654G>C)
c.2893G>C (p.Val965Leu)
n.677G>C
c.3346G>C (p.Val1116Leu)
c.3115G>C (n.3115G>C)
c.3190G>C (p.Val1064Leu)
c.2506G>C (p.Val836Leu)
n.3368G>C
n.4085G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
9g.95453581C>TCA5138165PTCH1c.3148G>A (p.Val1050Met)
c.3343G>A (p.Val1115Met)
c.*1654G>A (n.*1654G>A)
c.2893G>A (p.Val965Met)
n.677G>A
c.3346G>A (p.Val1116Met)
c.3115G>A (n.3115G>A)
c.3190G>A (p.Val1064Met)
c.2506G>A (p.Val836Met)
n.3368G>A
n.4085G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.95453582A>CCA466108039PTCH1c.3147T>G (p.Ala1049=)
c.3342T>G (p.Ala1114=)
c.*1653T>G (n.*1653T>G)
c.2892T>G (p.Ala964=)
n.676T>G
c.3345T>G (p.Ala1115=)
c.3114T>G (n.3114T>G)
c.3189T>G (p.Ala1063=)
c.2505T>G (p.Ala835=)
n.3367T>G
n.4084T>G
9g.95453582A>GCA466108041PTCH1c.3147T>C (p.Ala1049=)
c.3342T>C (p.Ala1114=)
c.*1653T>C (n.*1653T>C)
c.2892T>C (p.Ala964=)
n.676T>C
c.3345T>C (p.Ala1115=)
c.3114T>C (n.3114T>C)
c.3189T>C (p.Ala1063=)
c.2505T>C (p.Ala835=)
n.3367T>C
n.4084T>C
9g.95453582A>TCA466108044PTCH1c.3147T>A (p.Ala1049=)
c.3342T>A (p.Ala1114=)
c.*1653T>A (n.*1653T>A)
c.2892T>A (p.Ala964=)
n.676T>A
c.3345T>A (p.Ala1115=)
c.3114T>A (n.3114T>A)
c.3189T>A (p.Ala1063=)
c.2505T>A (p.Ala835=)
n.3367T>A
n.4084T>A
9g.95453583G>ACA5138166PTCH1c.3146C>T (p.Ala1049Val)
c.3341C>T (p.Ala1114Val)
c.*1652C>T (n.*1652C>T)
c.2891C>T (p.Ala964Val)
n.675C>T
c.3344C>T (p.Ala1115Val)
c.3113C>T (n.3113C>T)
c.3188C>T (p.Ala1063Val)
c.2504C>T (p.Ala835Val)
n.3366C>T
n.4083C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95453583G>CCA374111858PTCH1c.3146C>G (p.Ala1049Gly)
c.3341C>G (p.Ala1114Gly)
c.*1652C>G (n.*1652C>G)
c.2891C>G (p.Ala964Gly)
n.675C>G
c.3344C>G (p.Ala1115Gly)
c.3113C>G (n.3113C>G)
c.3188C>G (p.Ala1063Gly)
c.2504C>G (p.Ala835Gly)
n.3366C>G
n.4083C>G
9g.95453583G=CA1865584088PTCH1c.3146C= (p.Ala1049=)
c.3341C= (p.Ala1114=)
c.*1652C= (n.*1652C=)
c.2891C= (p.Ala964=)
n.675C=
c.3344C= (p.Ala1115=)
c.3113C= (n.3113C=)
c.3188C= (p.Ala1063=)
c.2504C= (p.Ala835=)
n.3366C=
n.4083C=
9g.95453583G>TCA374111859PTCH1c.3146C>A (p.Ala1049Asp)
c.3341C>A (p.Ala1114Asp)
c.*1652C>A (n.*1652C>A)
c.2891C>A (p.Ala964Asp)
n.675C>A
c.3344C>A (p.Ala1115Asp)
c.3113C>A (n.3113C>A)
c.3188C>A (p.Ala1063Asp)
c.2504C>A (p.Ala835Asp)
n.3366C>A
n.4083C>A
9g.95453584C>ACA374111860PTCH1c.3145G>T (p.Ala1049Ser)
c.3340G>T (p.Ala1114Ser)
c.*1651G>T (n.*1651G>T)
c.2890G>T (p.Ala964Ser)
n.674G>T
c.3343G>T (p.Ala1115Ser)
c.3112G>T (n.3112G>T)
c.3187G>T (p.Ala1063Ser)
c.2503G>T (p.Ala835Ser)
n.3365G>T
n.4082G>T
9g.95453584C>GCA374111861PTCH1c.3145G>C (p.Ala1049Pro)
c.3340G>C (p.Ala1114Pro)
c.*1651G>C (n.*1651G>C)
c.2890G>C (p.Ala964Pro)
n.674G>C
c.3343G>C (p.Ala1115Pro)
c.3112G>C (n.3112G>C)
c.3187G>C (p.Ala1063Pro)
c.2503G>C (p.Ala835Pro)
n.3365G>C
n.4082G>C
9g.95453584C>TCA374111862PTCH1c.3145G>A (p.Ala1049Thr)
c.3340G>A (p.Ala1114Thr)
c.*1651G>A (n.*1651G>A)
c.2890G>A (p.Ala964Thr)
n.674G>A
c.3343G>A (p.Ala1115Thr)
c.3112G>A (n.3112G>A)
c.3187G>A (p.Ala1063Thr)
c.2503G>A (p.Ala835Thr)
n.3365G>A
n.4082G>A
 dbSNP gnomAD v4
9g.95453585C>ACA374111863PTCH1c.3144G>T (p.Arg1048Ser)
c.3339G>T (p.Arg1113Ser)
c.*1650G>T (n.*1650G>T)
c.2889G>T (p.Arg963Ser)
n.673G>T
c.3342G>T (p.Arg1114Ser)
c.3111G>T (n.3111G>T)
c.3186G>T (p.Arg1062Ser)
c.2502G>T (p.Arg834Ser)
n.3364G>T
n.4081G>T
9g.95453585C=CA1865584095PTCH1c.3144G= (p.Arg1048=)
c.3339G= (p.Arg1113=)
c.*1650G= (n.*1650G=)
c.2889G= (p.Arg963=)
n.673G=
c.3342G= (p.Arg1114=)
c.3111G= (n.3111G=)
c.3186G= (p.Arg1062=)
c.2502G= (p.Arg834=)
n.3364G=
n.4081G=
9g.95453585C>GCA374111864PTCH1c.3144G>C (p.Arg1048Ser)
c.3339G>C (p.Arg1113Ser)
c.*1650G>C (n.*1650G>C)
c.2889G>C (p.Arg963Ser)
n.673G>C
c.3342G>C (p.Arg1114Ser)
c.3111G>C (n.3111G>C)
c.3186G>C (p.Arg1062Ser)
c.2502G>C (p.Arg834Ser)
n.3364G>C
n.4081G>C
9g.95453585C>TCA196571116PTCH1c.3144G>A (p.Arg1048=)
c.3339G>A (p.Arg1113=)
c.*1650G>A (n.*1650G>A)
c.2889G>A (p.Arg963=)
n.673G>A
c.3342G>A (p.Arg1114=)
c.3111G>A (n.3111G>A)
c.3186G>A (p.Arg1062=)
c.2502G>A (p.Arg834=)
n.3364G>A
n.4081G>A
 ClinVar dbSNP gnomAD v4
9g.95453586C>ACA374111865PTCH1c.3143G>T (p.Arg1048Met)
c.3338G>T (p.Arg1113Met)
c.*1649G>T (n.*1649G>T)
c.2888G>T (p.Arg963Met)
n.672G>T
c.3341G>T (p.Arg1114Met)
c.3110G>T (n.3110G>T)
c.3185G>T (p.Arg1062Met)
c.2501G>T (p.Arg834Met)
n.3363G>T
n.4080G>T
9g.95453586C>GCA374111866PTCH1c.3143G>C (p.Arg1048Thr)
c.3338G>C (p.Arg1113Thr)
c.*1649G>C (n.*1649G>C)
c.2888G>C (p.Arg963Thr)
n.672G>C
c.3341G>C (p.Arg1114Thr)
c.3110G>C (n.3110G>C)
c.3185G>C (p.Arg1062Thr)
c.2501G>C (p.Arg834Thr)
n.3363G>C
n.4080G>C
9g.95453586C>TCA374111867PTCH1c.3143G>A (p.Arg1048Lys)
c.3338G>A (p.Arg1113Lys)
c.*1649G>A (n.*1649G>A)
c.2888G>A (p.Arg963Lys)
n.672G>A
c.3341G>A (p.Arg1114Lys)
c.3110G>A (n.3110G>A)
c.3185G>A (p.Arg1062Lys)
c.2501G>A (p.Arg834Lys)
n.3363G>A
n.4080G>A
9g.95453587T>ACA119388PTCH1c.3142A>T (p.Arg1048Trp)
c.3337A>T (p.Arg1113Trp)
c.*1648A>T (n.*1648A>T)
c.2887A>T (p.Arg963Trp)
n.671A>T
c.3340A>T (p.Arg1114Trp)
c.3109A>T (n.3109A>T)
c.3184A>T (p.Arg1062Trp)
c.2500A>T (p.Arg834Trp)
n.3362A>T
n.4079A>T
 ClinVar dbSNP COSMIC
9g.95453587T>CCA374111868PTCH1c.3142A>G (p.Arg1048Gly)
c.3337A>G (p.Arg1113Gly)
c.*1648A>G (n.*1648A>G)
c.2887A>G (p.Arg963Gly)
n.671A>G
c.3340A>G (p.Arg1114Gly)
c.3109A>G (n.3109A>G)
c.3184A>G (p.Arg1062Gly)
c.2500A>G (p.Arg834Gly)
n.3362A>G
n.4079A>G
9g.95453587T>GCA466108067PTCH1c.3142A>C (p.Arg1048=)
c.3337A>C (p.Arg1113=)
c.*1648A>C (n.*1648A>C)
c.2887A>C (p.Arg963=)
n.671A>C
c.3340A>C (p.Arg1114=)
c.3109A>C (n.3109A>C)
c.3184A>C (p.Arg1062=)
c.2500A>C (p.Arg834=)
n.3362A>C
n.4079A>C
 ClinVar dbSNP
9g.95453587T=CA1865584103PTCH1c.3142A= (p.Arg1048=)
c.3337A= (p.Arg1113=)
c.*1648A= (n.*1648A=)
c.2887A= (p.Arg963=)
n.671A=
c.3340A= (p.Arg1114=)
c.3109A= (n.3109A=)
c.3184A= (p.Arg1062=)
c.2500A= (p.Arg834=)
n.3362A=
n.4079A=
9g.95453587_95453735delinsTGCGGTTCTTGTCGCCGATGGCCGTCAGAAAGGCCTGTGCAATGAGGATGTTCACAAGATCAGGTTGCTGGACTTCACCTGGTAAATGCTCAGCTCTGTCCTAAATGTTACAAGCTCTCAGAACTGCTCACATCTTACTGTTTTAGTTGCA1865584108PTCH1c.3109-115_3142delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
c.3304-115_3337delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
c.*1615-115_*1648delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
c.2854-115_2887delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
n.638-115_671delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
c.3307-115_3340delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
c.3076-115_3109delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
c.3151-115_3184delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
c.2467-115_2500delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
n.3329-115_3362delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
n.4046-115_4079delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
9g.95453588G>ACA466108071PTCH1c.3141C>T (p.Arg1047=)
c.3336C>T (p.Arg1112=)
c.*1647C>T (n.*1647C>T)
c.2886C>T (p.Arg962=)
n.670C>T
c.3339C>T (p.Arg1113=)
c.3108C>T (n.3108C>T)
c.3183C>T (p.Arg1061=)
c.2499C>T (p.Arg833=)
n.3361C>T
n.4078C>T
9g.95453588G>CCA466108074PTCH1c.3141C>G (p.Arg1047=)
c.3336C>G (p.Arg1112=)
c.*1647C>G (n.*1647C>G)
c.2886C>G (p.Arg962=)
n.670C>G
c.3339C>G (p.Arg1113=)
c.3108C>G (n.3108C>G)
c.3183C>G (p.Arg1061=)
c.2499C>G (p.Arg833=)
n.3361C>G
n.4078C>G
9g.95453588G>TCA466108069PTCH1c.3141C>A (p.Arg1047=)
c.3336C>A (p.Arg1112=)
c.*1647C>A (n.*1647C>A)
c.2886C>A (p.Arg962=)
n.670C>A
c.3339C>A (p.Arg1113=)
c.3108C>A (n.3108C>A)
c.3183C>A (p.Arg1061=)
c.2499C>A (p.Arg833=)
n.3361C>A
n.4078C>A
9g.95453588_95453735delCA1139661042PTCH1c.3109-115_3141del
c.3304-115_3336del
c.*1615-115_*1647del
c.2854-115_2886del
n.638-115_670del
c.3307-115_3339del
c.3076-115_3108del
c.3151-115_3183del
c.2467-115_2499del
n.3329-115_3361del
n.4046-115_4078del
 ClinVar dbSNP
9g.95453589C>ACA374111869PTCH1c.3140G>T (p.Arg1047Leu)
c.3335G>T (p.Arg1112Leu)
c.*1646G>T (n.*1646G>T)
c.2885G>T (p.Arg962Leu)
n.669G>T
c.3338G>T (p.Arg1113Leu)
c.3107G>T (n.3107G>T)
c.3182G>T (p.Arg1061Leu)
c.2498G>T (p.Arg833Leu)
n.3360G>T
n.4077G>T
 ClinVar gnomAD v4
9g.95453589C=CA1865584124PTCH1c.3140G= (p.Arg1047=)
c.3335G= (p.Arg1112=)
c.*1646G= (n.*1646G=)
c.2885G= (p.Arg962=)
n.669G=
c.3338G= (p.Arg1113=)
c.3107G= (n.3107G=)
c.3182G= (p.Arg1061=)
c.2498G= (p.Arg833=)
n.3360G=
n.4077G=
9g.95453589C>GCA374111870PTCH1c.3140G>C (p.Arg1047Pro)
c.3335G>C (p.Arg1112Pro)
c.*1646G>C (n.*1646G>C)
c.2885G>C (p.Arg962Pro)
n.669G>C
c.3338G>C (p.Arg1113Pro)
c.3107G>C (n.3107G>C)
c.3182G>C (p.Arg1061Pro)
c.2498G>C (p.Arg833Pro)
n.3360G>C
n.4077G>C
 dbSNP
9g.95453589C>TCA348509PTCH1c.3140G>A (p.Arg1047His)
c.3335G>A (p.Arg1112His)
c.*1646G>A (n.*1646G>A)
c.2885G>A (p.Arg962His)
n.669G>A
c.3338G>A (p.Arg1113His)
c.3107G>A (n.3107G>A)
c.3182G>A (p.Arg1061His)
c.2498G>A (p.Arg833His)
n.3360G>A
n.4077G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95453590G>ACA5138167PTCH1c.3139C>T (p.Arg1047Cys)
c.3334C>T (p.Arg1112Cys)
c.*1645C>T (n.*1645C>T)
c.2884C>T (p.Arg962Cys)
n.668C>T
c.3337C>T (p.Arg1113Cys)
c.3106C>T (n.3106C>T)
c.3181C>T (p.Arg1061Cys)
c.2497C>T (p.Arg833Cys)
n.3359C>T
n.4076C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95453590G>CCA374111872PTCH1c.3139C>G (p.Arg1047Gly)
c.3334C>G (p.Arg1112Gly)
c.*1645C>G (n.*1645C>G)
c.2884C>G (p.Arg962Gly)
n.668C>G
c.3337C>G (p.Arg1113Gly)
c.3106C>G (n.3106C>G)
c.3181C>G (p.Arg1061Gly)
c.2497C>G (p.Arg833Gly)
n.3359C>G
n.4076C>G
9g.95453590G=CA1865584136PTCH1c.3139C= (p.Arg1047=)
c.3334C= (p.Arg1112=)
c.*1645C= (n.*1645C=)
c.2884C= (p.Arg962=)
n.668C=
c.3337C= (p.Arg1113=)
c.3106C= (n.3106C=)
c.3181C= (p.Arg1061=)
c.2497C= (p.Arg833=)
n.3359C=
n.4076C=
9g.95453590G>TCA374111871PTCH1c.3139C>A (p.Arg1047Ser)
c.3334C>A (p.Arg1112Ser)
c.*1645C>A (n.*1645C>A)
c.2884C>A (p.Arg962Ser)
n.668C>A
c.3337C>A (p.Arg1113Ser)
c.3106C>A (n.3106C>A)
c.3181C>A (p.Arg1061Ser)
c.2497C>A (p.Arg833Ser)
n.3359C>A
n.4076C>A
 gnomAD v4
9g.95453591G>ACA466108089PTCH1c.3138C>T (p.Asn1046=)
c.3333C>T (p.Asn1111=)
c.*1644C>T (n.*1644C>T)
c.2883C>T (p.Asn961=)
n.667C>T
c.3336C>T (p.Asn1112=)
c.3105C>T (n.3105C>T)
c.3180C>T (p.Asn1060=)
c.2496C>T (p.Asn832=)
n.3358C>T
n.4075C>T
 ClinVar gnomAD v4
9g.95453591G>CCA374111874PTCH1c.3138C>G (p.Asn1046Lys)
c.3333C>G (p.Asn1111Lys)
c.*1644C>G (n.*1644C>G)
c.2883C>G (p.Asn961Lys)
n.667C>G
c.3336C>G (p.Asn1112Lys)
c.3105C>G (n.3105C>G)
c.3180C>G (p.Asn1060Lys)
c.2496C>G (p.Asn832Lys)
n.3358C>G
n.4075C>G
9g.95453591G>TCA374111873PTCH1c.3138C>A (p.Asn1046Lys)
c.3333C>A (p.Asn1111Lys)
c.*1644C>A (n.*1644C>A)
c.2883C>A (p.Asn961Lys)
n.667C>A
c.3336C>A (p.Asn1112Lys)
c.3105C>A (n.3105C>A)
c.3180C>A (p.Asn1060Lys)
c.2496C>A (p.Asn832Lys)
n.3358C>A
n.4075C>A
 ClinVar
9g.95453592T>ACA374111875PTCH1c.3137A>T (p.Asn1046Ile)
c.3332A>T (p.Asn1111Ile)
c.*1643A>T (n.*1643A>T)
c.2882A>T (p.Asn961Ile)
n.666A>T
c.3335A>T (p.Asn1112Ile)
c.3104A>T (n.3104A>T)
c.3179A>T (p.Asn1060Ile)
c.2495A>T (p.Asn832Ile)
n.3357A>T
n.4074A>T
9g.95453592T>CCA374111876PTCH1c.3137A>G (p.Asn1046Ser)
c.3332A>G (p.Asn1111Ser)
c.*1643A>G (n.*1643A>G)
c.2882A>G (p.Asn961Ser)
n.666A>G
c.3335A>G (p.Asn1112Ser)
c.3104A>G (n.3104A>G)
c.3179A>G (p.Asn1060Ser)
c.2495A>G (p.Asn832Ser)
n.3357A>G
n.4074A>G
 ClinVar dbSNP gnomAD v2
9g.95453592T>GCA374111877PTCH1c.3137A>C (p.Asn1046Thr)
c.3332A>C (p.Asn1111Thr)
c.*1643A>C (n.*1643A>C)
c.2882A>C (p.Asn961Thr)
n.666A>C
c.3335A>C (p.Asn1112Thr)
c.3104A>C (n.3104A>C)
c.3179A>C (p.Asn1060Thr)
c.2495A>C (p.Asn832Thr)
n.3357A>C
n.4074A>C
9g.95453592T=CA1865584141PTCH1c.3137A= (p.Asn1046=)
c.3332A= (p.Asn1111=)
c.*1643A= (n.*1643A=)
c.2882A= (p.Asn961=)
n.666A=
c.3335A= (p.Asn1112=)
c.3104A= (n.3104A=)
c.3179A= (p.Asn1060=)
c.2495A= (p.Asn832=)
n.3357A=
n.4074A=
9g.95453593T>ACA374111878PTCH1c.3136A>T (p.Asn1046Tyr)
c.3331A>T (p.Asn1111Tyr)
c.*1642A>T (n.*1642A>T)
c.2881A>T (p.Asn961Tyr)
n.665A>T
c.3334A>T (p.Asn1112Tyr)
c.3103A>T (n.3103A>T)
c.3178A>T (p.Asn1060Tyr)
c.2494A>T (p.Asn832Tyr)
n.3356A>T
n.4073A>T
9g.95453593T>CCA374111879PTCH1c.3136A>G (p.Asn1046Asp)
c.3331A>G (p.Asn1111Asp)
c.*1642A>G (n.*1642A>G)
c.2881A>G (p.Asn961Asp)
n.665A>G
c.3334A>G (p.Asn1112Asp)
c.3103A>G (n.3103A>G)
c.3178A>G (p.Asn1060Asp)
c.2494A>G (p.Asn832Asp)
n.3356A>G
n.4073A>G
9g.95453593T>GCA374111880PTCH1c.3136A>C (p.Asn1046His)
c.3331A>C (p.Asn1111His)
c.*1642A>C (n.*1642A>C)
c.2881A>C (p.Asn961His)
n.665A>C
c.3334A>C (p.Asn1112His)
c.3103A>C (n.3103A>C)
c.3178A>C (p.Asn1060His)
c.2494A>C (p.Asn832His)
n.3356A>C
n.4073A>C
9g.95453594delCA2573144877PTCH1c.3135del (p.Asn1046ThrfsTer27)
c.3330del (p.Asn1111ThrfsTer27)
c.*1641del (n.*1641del)
c.2880del (p.Asn961ThrfsTer27)
n.664del
c.3333del (p.Asn1112ThrfsTer27)
c.3102del (n.3102del)
c.3177del (p.Asn1060ThrfsTer27)
c.2493del (p.Asn832ThrfsTer27)
n.3355del
n.4072del
 ClinVar dbSNP
9g.95453594C>ACA374111881PTCH1c.3135G>T (p.Lys1045Asn)
c.3330G>T (p.Lys1110Asn)
c.*1641G>T (n.*1641G>T)
c.2880G>T (p.Lys960Asn)
n.664G>T
c.3333G>T (p.Lys1111Asn)
c.3102G>T (n.3102G>T)
c.3177G>T (p.Lys1059Asn)
c.2493G>T (p.Lys831Asn)
n.3355G>T
n.4072G>T
9g.95453594C>GCA374111882PTCH1c.3135G>C (p.Lys1045Asn)
c.3330G>C (p.Lys1110Asn)
c.*1641G>C (n.*1641G>C)
c.2880G>C (p.Lys960Asn)
n.664G>C
c.3333G>C (p.Lys1111Asn)
c.3102G>C (n.3102G>C)
c.3177G>C (p.Lys1059Asn)
c.2493G>C (p.Lys831Asn)
n.3355G>C
n.4072G>C
9g.95453594C>TCA466108105PTCH1c.3135G>A (p.Lys1045=)
c.3330G>A (p.Lys1110=)
c.*1641G>A (n.*1641G>A)
c.2880G>A (p.Lys960=)
n.664G>A
c.3333G>A (p.Lys1111=)
c.3102G>A (n.3102G>A)
c.3177G>A (p.Lys1059=)
c.2493G>A (p.Lys831=)
n.3355G>A
n.4072G>A
9g.95453595T>ACA374111883PTCH1c.3134A>T (p.Lys1045Met)
c.3329A>T (p.Lys1110Met)
c.*1640A>T (n.*1640A>T)
c.2879A>T (p.Lys960Met)
n.663A>T
c.3332A>T (p.Lys1111Met)
c.3101A>T (n.3101A>T)
c.3176A>T (p.Lys1059Met)
c.2492A>T (p.Lys831Met)
n.3354A>T
n.4071A>T
9g.95453595T>CCA374111884PTCH1c.3134A>G (p.Lys1045Arg)
c.3329A>G (p.Lys1110Arg)
c.*1640A>G (n.*1640A>G)
c.2879A>G (p.Lys960Arg)
n.663A>G
c.3332A>G (p.Lys1111Arg)
c.3101A>G (n.3101A>G)
c.3176A>G (p.Lys1059Arg)
c.2492A>G (p.Lys831Arg)
n.3354A>G
n.4071A>G
 ClinVar dbSNP gnomAD v4
9g.95453595T>GCA374111885PTCH1c.3134A>C (p.Lys1045Thr)
c.3329A>C (p.Lys1110Thr)
c.*1640A>C (n.*1640A>C)
c.2879A>C (p.Lys960Thr)
n.663A>C
c.3332A>C (p.Lys1111Thr)
c.3101A>C (n.3101A>C)
c.3176A>C (p.Lys1059Thr)
c.2492A>C (p.Lys831Thr)
n.3354A>C
n.4071A>C
9g.95453596T>ACA374111888PTCH1c.3133A>T (p.Lys1045Ter)
c.3328A>T (p.Lys1110Ter)
c.*1639A>T (n.*1639A>T)
c.2878A>T (p.Lys960Ter)
n.662A>T
c.3331A>T (p.Lys1111Ter)
c.3100A>T (n.3100A>T)
c.3175A>T (p.Lys1059Ter)
c.2491A>T (p.Lys831Ter)
n.3353A>T
n.4070A>T
9g.95453596T>CCA374111886PTCH1c.3133A>G (p.Lys1045Glu)
c.3328A>G (p.Lys1110Glu)
c.*1639A>G (n.*1639A>G)
c.2878A>G (p.Lys960Glu)
n.662A>G
c.3331A>G (p.Lys1111Glu)
c.3100A>G (n.3100A>G)
c.3175A>G (p.Lys1059Glu)
c.2491A>G (p.Lys831Glu)
n.3353A>G
n.4070A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.95453596T>GCA374111887PTCH1c.3133A>C (p.Lys1045Gln)
c.3328A>C (p.Lys1110Gln)
c.*1639A>C (n.*1639A>C)
c.2878A>C (p.Lys960Gln)
n.662A>C
c.3331A>C (p.Lys1111Gln)
c.3100A>C (n.3100A>C)
c.3175A>C (p.Lys1059Gln)
c.2491A>C (p.Lys831Gln)
n.3353A>C
n.4070A>C
 gnomAD v4
9g.95453596T=CA1865584144PTCH1c.3133A= (p.Lys1045=)
c.3328A= (p.Lys1110=)
c.*1639A= (n.*1639A=)
c.2878A= (p.Lys960=)
n.662A=
c.3331A= (p.Lys1111=)
c.3100A= (n.3100A=)
c.3175A= (p.Lys1059=)
c.2491A= (p.Lys831=)
n.3353A=
n.4070A=
9g.95453597G>ACA466108121PTCH1c.3132C>T (p.Asp1044=)
c.3327C>T (p.Asp1109=)
c.*1638C>T (n.*1638C>T)
c.2877C>T (p.Asp959=)
n.661C>T
c.3330C>T (p.Asp1110=)
c.3099C>T (n.3099C>T)
c.3174C>T (p.Asp1058=)
c.2490C>T (p.Asp830=)
n.3352C>T
n.4069C>T
9g.95453597G>CCA374111889PTCH1c.3132C>G (p.Asp1044Glu)
c.3327C>G (p.Asp1109Glu)
c.*1638C>G (n.*1638C>G)
c.2877C>G (p.Asp959Glu)
n.661C>G
c.3330C>G (p.Asp1110Glu)
c.3099C>G (n.3099C>G)
c.3174C>G (p.Asp1058Glu)
c.2490C>G (p.Asp830Glu)
n.3352C>G
n.4069C>G
 dbSNP
9g.95453597G>TCA374111890PTCH1c.3132C>A (p.Asp1044Glu)
c.3327C>A (p.Asp1109Glu)
c.*1638C>A (n.*1638C>A)
c.2877C>A (p.Asp959Glu)
n.661C>A
c.3330C>A (p.Asp1110Glu)
c.3099C>A (n.3099C>A)
c.3174C>A (p.Asp1058Glu)
c.2490C>A (p.Asp830Glu)
n.3352C>A
n.4069C>A
 ClinVar
9g.95453598T>ACA374111891PTCH1c.3131A>T (p.Asp1044Val)
c.3326A>T (p.Asp1109Val)
c.*1637A>T (n.*1637A>T)
c.2876A>T (p.Asp959Val)
n.660A>T
c.3329A>T (p.Asp1110Val)
c.3098A>T (n.3098A>T)
c.3173A>T (p.Asp1058Val)
c.2489A>T (p.Asp830Val)
n.3351A>T
n.4068A>T
9g.95453598T>CCA374111892PTCH1c.3131A>G (p.Asp1044Gly)
c.3326A>G (p.Asp1109Gly)
c.*1637A>G (n.*1637A>G)
c.2876A>G (p.Asp959Gly)
n.660A>G
c.3329A>G (p.Asp1110Gly)
c.3098A>G (n.3098A>G)
c.3173A>G (p.Asp1058Gly)
c.2489A>G (p.Asp830Gly)
n.3351A>G
n.4068A>G
9g.95453598T>GCA374111893PTCH1c.3131A>C (p.Asp1044Ala)
c.3326A>C (p.Asp1109Ala)
c.*1637A>C (n.*1637A>C)
c.2876A>C (p.Asp959Ala)
n.660A>C
c.3329A>C (p.Asp1110Ala)
c.3098A>C (n.3098A>C)
c.3173A>C (p.Asp1058Ala)
c.2489A>C (p.Asp830Ala)
n.3351A>C
n.4068A>C
9g.95453599C>ACA374111894PTCH1c.3130G>T (p.Asp1044Tyr)
c.3325G>T (p.Asp1109Tyr)
c.*1636G>T (n.*1636G>T)
c.2875G>T (p.Asp959Tyr)
n.659G>T
c.3328G>T (p.Asp1110Tyr)
c.3097G>T (n.3097G>T)
c.3172G>T (p.Asp1058Tyr)
c.2488G>T (p.Asp830Tyr)
n.3350G>T
n.4067G>T
 ClinVar dbSNP
9g.95453599C=CA1865584156PTCH1c.3130G= (p.Asp1044=)
c.3325G= (p.Asp1109=)
c.*1636G= (n.*1636G=)
c.2875G= (p.Asp959=)
n.659G=
c.3328G= (p.Asp1110=)
c.3097G= (n.3097G=)
c.3172G= (p.Asp1058=)
c.2488G= (p.Asp830=)
n.3350G=
n.4067G=
9g.95453599C>GCA374111895PTCH1c.3130G>C (p.Asp1044His)
c.3325G>C (p.Asp1109His)
c.*1636G>C (n.*1636G>C)
c.2875G>C (p.Asp959His)
n.659G>C
c.3328G>C (p.Asp1110His)
c.3097G>C (n.3097G>C)
c.3172G>C (p.Asp1058His)
c.2488G>C (p.Asp830His)
n.3350G>C
n.4067G>C
 ClinVar dbSNP gnomAD v4
9g.95453599C>TCA196571130PTCH1c.3130G>A (p.Asp1044Asn)
c.3325G>A (p.Asp1109Asn)
c.*1636G>A (n.*1636G>A)
c.2875G>A (p.Asp959Asn)
n.659G>A
c.3328G>A (p.Asp1110Asn)
c.3097G>A (n.3097G>A)
c.3172G>A (p.Asp1058Asn)
c.2488G>A (p.Asp830Asn)
n.3350G>A
n.4067G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.95453599_95453602dupCA2695210760PTCH1c.3127_3130dup (p.Asp1044GlyfsTer?)
c.3322_3325dup (p.Asp1109GlyfsTer?)
c.*1633_*1636dup (n.*1633_*1636dup)
c.2872_2875dup (p.Asp959GlyfsTer?)
n.656_659dup
c.3325_3328dup (p.Asp1110GlyfsTer?)
c.3094_3097dup (n.3094_3097dup)
c.3169_3172dup (p.Asp1058GlyfsTer?)
c.2485_2488dup (p.Asp830GlyfsTer?)
n.3347_3350dup
n.4064_4067dup
9g.95453600G>ACA5138168PTCH1c.3129C>T (p.Gly1043=)
c.3324C>T (p.Gly1108=)
c.*1635C>T (n.*1635C>T)
c.2874C>T (p.Gly958=)
n.658C>T
c.3327C>T (p.Gly1109=)
c.3096C>T (n.3096C>T)
c.3171C>T (p.Gly1057=)
c.2487C>T (p.Gly829=)
n.3349C>T
n.4066C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
9g.95453600G>CCA466108135PTCH1c.3129C>G (p.Gly1043=)
c.3324C>G (p.Gly1108=)
c.*1635C>G (n.*1635C>G)
c.2874C>G (p.Gly958=)
n.658C>G
c.3327C>G (p.Gly1109=)
c.3096C>G (n.3096C>G)
c.3171C>G (p.Gly1057=)
c.2487C>G (p.Gly829=)
n.3349C>G
n.4066C>G
9g.95453600G=CA1865584163PTCH1c.3129C= (p.Gly1043=)
c.3324C= (p.Gly1108=)
c.*1635C= (n.*1635C=)
c.2874C= (p.Gly958=)
n.658C=
c.3327C= (p.Gly1109=)
c.3096C= (n.3096C=)
c.3171C= (p.Gly1057=)
c.2487C= (p.Gly829=)
n.3349C=
n.4066C=
9g.95453600G>TCA466108140PTCH1c.3129C>A (p.Gly1043=)
c.3324C>A (p.Gly1108=)
c.*1635C>A (n.*1635C>A)
c.2874C>A (p.Gly958=)
n.658C>A
c.3327C>A (p.Gly1109=)
c.3096C>A (n.3096C>A)
c.3171C>A (p.Gly1057=)
c.2487C>A (p.Gly829=)
n.3349C>A
n.4066C>A
9g.95453601C>ACA374111896PTCH1c.3128G>T (p.Gly1043Val)
c.3323G>T (p.Gly1108Val)
c.*1634G>T (n.*1634G>T)
c.2873G>T (p.Gly958Val)
n.657G>T
c.3326G>T (p.Gly1109Val)
c.3095G>T (n.3095G>T)
c.3170G>T (p.Gly1057Val)
c.2486G>T (p.Gly829Val)
n.3348G>T
n.4065G>T
9g.95453601C>GCA374111897PTCH1c.3128G>C (p.Gly1043Ala)
c.3323G>C (p.Gly1108Ala)
c.*1634G>C (n.*1634G>C)
c.2873G>C (p.Gly958Ala)
n.657G>C
c.3326G>C (p.Gly1109Ala)
c.3095G>C (n.3095G>C)
c.3170G>C (p.Gly1057Ala)
c.2486G>C (p.Gly829Ala)
n.3348G>C
n.4065G>C
9g.95453601C>TCA374111898PTCH1c.3128G>A (p.Gly1043Asp)
c.3323G>A (p.Gly1108Asp)
c.*1634G>A (n.*1634G>A)
c.2873G>A (p.Gly958Asp)
n.657G>A
c.3326G>A (p.Gly1109Asp)
c.3095G>A (n.3095G>A)
c.3170G>A (p.Gly1057Asp)
c.2486G>A (p.Gly829Asp)
n.3348G>A
n.4065G>A
9g.95453602dupCA2695210761PTCH1c.3128dup (p.Asp1044ArgfsTer?)
c.3323dup (p.Asp1109ArgfsTer?)
c.*1634dup (n.*1634dup)
c.2873dup (p.Asp959ArgfsTer?)
n.657dup
c.3326dup (p.Asp1110ArgfsTer?)
c.3095dup (n.3095dup)
c.3170dup (p.Asp1058ArgfsTer?)
c.2486dup (p.Asp830ArgfsTer?)
n.3348dup
n.4065dup
9g.95453602C>ACA374111901PTCH1c.3127G>T (p.Gly1043Cys)
c.3322G>T (p.Gly1108Cys)
c.*1633G>T (n.*1633G>T)
c.2872G>T (p.Gly958Cys)
n.656G>T
c.3325G>T (p.Gly1109Cys)
c.3094G>T (n.3094G>T)
c.3169G>T (p.Gly1057Cys)
c.2485G>T (p.Gly829Cys)
n.3347G>T
n.4064G>T
9g.95453602C=CA1865584172PTCH1c.3127G= (p.Gly1043=)
c.3322G= (p.Gly1108=)
c.*1633G= (n.*1633G=)
c.2872G= (p.Gly958=)
n.656G=
c.3325G= (p.Gly1109=)
c.3094G= (n.3094G=)
c.3169G= (p.Gly1057=)
c.2485G= (p.Gly829=)
n.3347G=
n.4064G=
9g.95453602C>GCA374111900PTCH1c.3127G>C (p.Gly1043Arg)
c.3322G>C (p.Gly1108Arg)
c.*1633G>C (n.*1633G>C)
c.2872G>C (p.Gly958Arg)
n.656G>C
c.3325G>C (p.Gly1109Arg)
c.3094G>C (n.3094G>C)
c.3169G>C (p.Gly1057Arg)
c.2485G>C (p.Gly829Arg)
n.3347G>C
n.4064G>C
9g.95453602C>TCA374111899PTCH1c.3127G>A (p.Gly1043Ser)
c.3322G>A (p.Gly1108Ser)
c.*1633G>A (n.*1633G>A)
c.2872G>A (p.Gly958Ser)
n.656G>A
c.3325G>A (p.Gly1109Ser)
c.3094G>A (n.3094G>A)
c.3169G>A (p.Gly1057Ser)
c.2485G>A (p.Gly829Ser)
n.3347G>A
n.4064G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.95453603G>ACA466108150PTCH1c.3126C>T (p.Ile1042=)
c.3321C>T (p.Ile1107=)
c.*1632C>T (n.*1632C>T)
c.2871C>T (p.Ile957=)
n.655C>T
c.3324C>T (p.Ile1108=)
c.3093C>T (n.3093C>T)
c.3168C>T (p.Ile1056=)
c.2484C>T (p.Ile828=)
n.3346C>T
n.4063C>T
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
9g.95453603G>CCA5138169PTCH1c.3126C>G (p.Ile1042Met)
c.3321C>G (p.Ile1107Met)
c.*1632C>G (n.*1632C>G)
c.2871C>G (p.Ile957Met)
n.655C>G
c.3324C>G (p.Ile1108Met)
c.3093C>G (n.3093C>G)
c.3168C>G (p.Ile1056Met)
c.2484C>G (p.Ile828Met)
n.3346C>G
n.4063C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.95453603G=CA1865584178PTCH1c.3126C= (p.Ile1042=)
c.3321C= (p.Ile1107=)
c.*1632C= (n.*1632C=)
c.2871C= (p.Ile957=)
n.655C=
c.3324C= (p.Ile1108=)
c.3093C= (n.3093C=)
c.3168C= (p.Ile1056=)
c.2484C= (p.Ile828=)
n.3346C=
n.4063C=
9g.95453603G>TCA466108153PTCH1c.3126C>A (p.Ile1042=)
c.3321C>A (p.Ile1107=)
c.*1632C>A (n.*1632C>A)
c.2871C>A (p.Ile957=)
n.655C>A
c.3324C>A (p.Ile1108=)
c.3093C>A (n.3093C>A)
c.3168C>A (p.Ile1056=)
c.2484C>A (p.Ile828=)
n.3346C>A
n.4063C>A
 ClinVar
9g.95453604A>CCA374111902PTCH1c.3125T>G (p.Ile1042Ser)
c.3320T>G (p.Ile1107Ser)
c.*1631T>G (n.*1631T>G)
c.2870T>G (p.Ile957Ser)
n.654T>G
c.3323T>G (p.Ile1108Ser)
c.3092T>G (n.3092T>G)
c.3167T>G (p.Ile1056Ser)
c.2483T>G (p.Ile828Ser)
n.3345T>G
n.4062T>G
9g.95453604A>GCA374111903PTCH1c.3125T>C (p.Ile1042Thr)
c.3320T>C (p.Ile1107Thr)
c.*1631T>C (n.*1631T>C)
c.2870T>C (p.Ile957Thr)
n.654T>C
c.3323T>C (p.Ile1108Thr)
c.3092T>C (n.3092T>C)
c.3167T>C (p.Ile1056Thr)
c.2483T>C (p.Ile828Thr)
n.3345T>C
n.4062T>C
9g.95453604A>TCA374111904PTCH1c.3125T>A (p.Ile1042Asn)
c.3320T>A (p.Ile1107Asn)
c.*1631T>A (n.*1631T>A)
c.2870T>A (p.Ile957Asn)
n.654T>A
c.3323T>A (p.Ile1108Asn)
c.3092T>A (n.3092T>A)
c.3167T>A (p.Ile1056Asn)
c.2483T>A (p.Ile828Asn)
n.3345T>A
n.4062T>A
9g.95453605T>ACA374111905PTCH1c.3124A>T (p.Ile1042Phe)
c.3319A>T (p.Ile1107Phe)
c.*1630A>T (n.*1630A>T)
c.2869A>T (p.Ile957Phe)
n.653A>T
c.3322A>T (p.Ile1108Phe)
c.3091A>T (n.3091A>T)
c.3166A>T (p.Ile1056Phe)
c.2482A>T (p.Ile828Phe)
n.3344A>T
n.4061A>T
9g.95453605T>CCA16612665PTCH1c.3124A>G (p.Ile1042Val)
c.3319A>G (p.Ile1107Val)
c.*1630A>G (n.*1630A>G)
c.2869A>G (p.Ile957Val)
n.653A>G
c.3322A>G (p.Ile1108Val)
c.3091A>G (n.3091A>G)
c.3166A>G (p.Ile1056Val)
c.2482A>G (p.Ile828Val)
n.3344A>G
n.4061A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.95453605T>GCA374111906PTCH1c.3124A>C (p.Ile1042Leu)
c.3319A>C (p.Ile1107Leu)
c.*1630A>C (n.*1630A>C)
c.2869A>C (p.Ile957Leu)
n.653A>C
c.3322A>C (p.Ile1108Leu)
c.3091A>C (n.3091A>C)
c.3166A>C (p.Ile1056Leu)
c.2482A>C (p.Ile828Leu)
n.3344A>C
n.4061A>C
9g.95453605T=CA1865584187PTCH1c.3124A= (p.Ile1042=)
c.3319A= (p.Ile1107=)
c.*1630A= (n.*1630A=)
c.2869A= (p.Ile957=)
n.653A=
c.3322A= (p.Ile1108=)
c.3091A= (n.3091A=)
c.3166A= (p.Ile1056=)
c.2482A= (p.Ile828=)
n.3344A=
n.4061A=
9g.95453606G>ACA466108164PTCH1c.3123C>T (p.Ala1041=)
c.3318C>T (p.Ala1106=)
c.*1629C>T (n.*1629C>T)
c.2868C>T (p.Ala956=)
n.652C>T
c.3321C>T (p.Ala1107=)
c.3090C>T (n.3090C>T)
c.3165C>T (p.Ala1055=)
c.2481C>T (p.Ala827=)
n.3343C>T
n.4060C>T
9g.95453606G>CCA466108166PTCH1c.3123C>G (p.Ala1041=)
c.3318C>G (p.Ala1106=)
c.*1629C>G (n.*1629C>G)
c.2868C>G (p.Ala956=)
n.652C>G
c.3321C>G (p.Ala1107=)
c.3090C>G (n.3090C>G)
c.3165C>G (p.Ala1055=)
c.2481C>G (p.Ala827=)
n.3343C>G
n.4060C>G
9g.95453606G>TCA466108168PTCH1c.3123C>A (p.Ala1041=)
c.3318C>A (p.Ala1106=)
c.*1629C>A (n.*1629C>A)
c.2868C>A (p.Ala956=)
n.652C>A
c.3321C>A (p.Ala1107=)
c.3090C>A (n.3090C>A)
c.3165C>A (p.Ala1055=)
c.2481C>A (p.Ala827=)
n.3343C>A
n.4060C>A
9g.95453607G>ACA374111907PTCH1c.3122C>T (p.Ala1041Val)
c.3317C>T (p.Ala1106Val)
c.*1628C>T (n.*1628C>T)
c.2867C>T (p.Ala956Val)
n.651C>T
c.3320C>T (p.Ala1107Val)
c.3089C>T (n.3089C>T)
c.3164C>T (p.Ala1055Val)
c.2480C>T (p.Ala827Val)
n.3342C>T
n.4059C>T
 dbSNP
9g.95453607G>CCA374111908PTCH1c.3122C>G (p.Ala1041Gly)
c.3317C>G (p.Ala1106Gly)
c.*1628C>G (n.*1628C>G)
c.2867C>G (p.Ala956Gly)
n.651C>G
c.3320C>G (p.Ala1107Gly)
c.3089C>G (n.3089C>G)
c.3164C>G (p.Ala1055Gly)
c.2480C>G (p.Ala827Gly)
n.3342C>G
n.4059C>G
 gnomAD v4
9g.95453607G>TCA374111909PTCH1c.3122C>A (p.Ala1041Asp)
c.3317C>A (p.Ala1106Asp)
c.*1628C>A (n.*1628C>A)
c.2867C>A (p.Ala956Asp)
n.651C>A
c.3320C>A (p.Ala1107Asp)
c.3089C>A (n.3089C>A)
c.3164C>A (p.Ala1055Asp)
c.2480C>A (p.Ala827Asp)
n.3342C>A
n.4059C>A
 COSMIC COSMIC COSMIC COSMIC
9g.95453608C>ACA374111910PTCH1c.3121G>T (p.Ala1041Ser)
c.3316G>T (p.Ala1106Ser)
c.*1627G>T (n.*1627G>T)
c.2866G>T (p.Ala956Ser)
n.650G>T
c.3319G>T (p.Ala1107Ser)
c.3088G>T (n.3088G>T)
c.3163G>T (p.Ala1055Ser)
c.2479G>T (p.Ala827Ser)
n.3341G>T
n.4058G>T
9g.95453608C>GCA374111911PTCH1c.3121G>C (p.Ala1041Pro)
c.3316G>C (p.Ala1106Pro)
c.*1627G>C (n.*1627G>C)
c.2866G>C (p.Ala956Pro)
n.650G>C
c.3319G>C (p.Ala1107Pro)
c.3088G>C (n.3088G>C)
c.3163G>C (p.Ala1055Pro)
c.2479G>C (p.Ala827Pro)
n.3341G>C
n.4058G>C
9g.95453608C>TCA374111912PTCH1c.3121G>A (p.Ala1041Thr)
c.3316G>A (p.Ala1106Thr)
c.*1627G>A (n.*1627G>A)
c.2866G>A (p.Ala956Thr)
n.650G>A
c.3319G>A (p.Ala1107Thr)
c.3088G>A (n.3088G>A)
c.3163G>A (p.Ala1055Thr)
c.2479G>A (p.Ala827Thr)
n.3341G>A
n.4058G>A
 dbSNP gnomAD v4
9g.95453609C>ACA466108181PTCH1c.3120G>T (p.Thr1040=)
c.3315G>T (p.Thr1105=)
c.*1626G>T (n.*1626G>T)
c.2865G>T (p.Thr955=)
n.649G>T
c.3318G>T (p.Thr1106=)
c.3087G>T (n.3087G>T)
c.3162G>T (p.Thr1054=)
c.2478G>T (p.Thr826=)
n.3340G>T
n.4057G>T
9g.95453609C=CA1865584193PTCH1c.3120G= (p.Thr1040=)
c.3315G= (p.Thr1105=)
c.*1626G= (n.*1626G=)
c.2865G= (p.Thr955=)
n.649G=
c.3318G= (p.Thr1106=)
c.3087G= (n.3087G=)
c.3162G= (p.Thr1054=)
c.2478G= (p.Thr826=)
n.3340G=
n.4057G=
9g.95453609C>GCA466108178PTCH1c.3120G>C (p.Thr1040=)
c.3315G>C (p.Thr1105=)
c.*1626G>C (n.*1626G>C)
c.2865G>C (p.Thr955=)
n.649G>C
c.3318G>C (p.Thr1106=)
c.3087G>C (n.3087G>C)
c.3162G>C (p.Thr1054=)
c.2478G>C (p.Thr826=)
n.3340G>C
n.4057G>C
9g.95453609C>TCA196571155PTCH1c.3120G>A (p.Thr1040=)
c.3315G>A (p.Thr1105=)
c.*1626G>A (n.*1626G>A)
c.2865G>A (p.Thr955=)
n.649G>A
c.3318G>A (p.Thr1106=)
c.3087G>A (n.3087G>A)
c.3162G>A (p.Thr1054=)
c.2478G>A (p.Thr826=)
n.3340G>A
n.4057G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.95453610G>ACA349072PTCH1c.3119C>T (p.Thr1040Met)
c.3314C>T (p.Thr1105Met)
c.*1625C>T (n.*1625C>T)
c.2864C>T (p.Thr955Met)
n.648C>T
c.3317C>T (p.Thr1106Met)
c.3086C>T (n.3086C>T)
c.3161C>T (p.Thr1054Met)
c.2477C>T (p.Thr826Met)
n.3339C>T
n.4056C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
9g.95453610G>CCA374111914PTCH1c.3119C>G (p.Thr1040Arg)
c.3314C>G (p.Thr1105Arg)
c.*1625C>G (n.*1625C>G)
c.2864C>G (p.Thr955Arg)
n.648C>G
c.3317C>G (p.Thr1106Arg)
c.3086C>G (n.3086C>G)
c.3161C>G (p.Thr1054Arg)
c.2477C>G (p.Thr826Arg)
n.3339C>G
n.4056C>G
9g.95453610G=CA1865584203PTCH1c.3119C= (p.Thr1040=)
c.3314C= (p.Thr1105=)
c.*1625C= (n.*1625C=)
c.2864C= (p.Thr955=)
n.648C=
c.3317C= (p.Thr1106=)
c.3086C= (n.3086C=)
c.3161C= (p.Thr1054=)
c.2477C= (p.Thr826=)
n.3339C=
n.4056C=
9g.95453610G>TCA374111913PTCH1c.3119C>A (p.Thr1040Lys)
c.3314C>A (p.Thr1105Lys)
c.*1625C>A (n.*1625C>A)
c.2864C>A (p.Thr955Lys)
n.648C>A
c.3317C>A (p.Thr1106Lys)
c.3086C>A (n.3086C>A)
c.3161C>A (p.Thr1054Lys)
c.2477C>A (p.Thr826Lys)
n.3339C>A
n.4056C>A
9g.95453611T>ACA374111915PTCH1c.3118A>T (p.Thr1040Ser)
c.3313A>T (p.Thr1105Ser)
c.*1624A>T (n.*1624A>T)
c.2863A>T (p.Thr955Ser)
n.647A>T
c.3316A>T (p.Thr1106Ser)
c.3085A>T (n.3085A>T)
c.3160A>T (p.Thr1054Ser)
c.2476A>T (p.Thr826Ser)
n.3338A>T
n.4055A>T
 dbSNP
9g.95453611T>CCA374111916PTCH1c.3118A>G (p.Thr1040Ala)
c.3313A>G (p.Thr1105Ala)
c.*1624A>G (n.*1624A>G)
c.2863A>G (p.Thr955Ala)
n.647A>G
c.3316A>G (p.Thr1106Ala)
c.3085A>G (n.3085A>G)
c.3160A>G (p.Thr1054Ala)
c.2476A>G (p.Thr826Ala)
n.3338A>G
n.4055A>G
 gnomAD v4
9g.95453611T>GCA374111917PTCH1c.3118A>C (p.Thr1040Pro)
c.3313A>C (p.Thr1105Pro)
c.*1624A>C (n.*1624A>C)
c.2863A>C (p.Thr955Pro)
n.647A>C
c.3316A>C (p.Thr1106Pro)
c.3085A>C (n.3085A>C)
c.3160A>C (p.Thr1054Pro)
c.2476A>C (p.Thr826Pro)
n.3338A>C
n.4055A>C
9g.95453612C>ACA466108199PTCH1c.3117G>T (p.Leu1039=)
c.3312G>T (p.Leu1104=)
c.*1623G>T (n.*1623G>T)
c.2862G>T (p.Leu954=)
n.646G>T
c.3315G>T (p.Leu1105=)
c.3084G>T (n.3084G>T)
c.3159G>T (p.Leu1053=)
c.2475G>T (p.Leu825=)
n.3337G>T
n.4054G>T
9g.95453612C=CA1865584206PTCH1c.3117G= (p.Leu1039=)
c.3312G= (p.Leu1104=)
c.*1623G= (n.*1623G=)
c.2862G= (p.Leu954=)
n.646G=
c.3315G= (p.Leu1105=)
c.3084G= (n.3084G=)
c.3159G= (p.Leu1053=)
c.2475G= (p.Leu825=)
n.3337G=
n.4054G=
9g.95453612C>GCA466108197PTCH1c.3117G>C (p.Leu1039=)
c.3312G>C (p.Leu1104=)
c.*1623G>C (n.*1623G>C)
c.2862G>C (p.Leu954=)
n.646G>C
c.3315G>C (p.Leu1105=)
c.3084G>C (n.3084G>C)
c.3159G>C (p.Leu1053=)
c.2475G>C (p.Leu825=)
n.3337G>C
n.4054G>C
9g.95453612C>TCA466108194PTCH1c.3117G>A (p.Leu1039=)
c.3312G>A (p.Leu1104=)
c.*1623G>A (n.*1623G>A)
c.2862G>A (p.Leu954=)
n.646G>A
c.3315G>A (p.Leu1105=)
c.3084G>A (n.3084G>A)
c.3159G>A (p.Leu1053=)
c.2475G>A (p.Leu825=)
n.3337G>A
n.4054G>A

Number of alleles fetched