All transcript variants in gene PTCH1

Information The variants shown are described using the NM_000264.3 transcript reference sequence.

49 entries on 1 page. Showing entries 1 - 49.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen prediction     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

Frequency     

Allele Count     

Allele Number     

Owner     
./. - c.395-8153C>T - r.(=) p.(=) - g.95494027G>A dbSNP PTCH1_000007 0.083 Control 59 712 Admin
./. - c.395-8153C>T - r.(=) p.(=) - g.95494027G>A dbSNP PTCH1_000007 0.058 Patients_Q37.4 6 104 Admin
./. - c.395-8153C>T - r.(=) p.(=) - g.95494027G>A dbSNP PTCH1_000007 0.050 Patients_Q37.5_left 6 120 Admin
./. - c.395-8153C>T - r.(=) p.(=) - g.95494027G>A dbSNP PTCH1_000007 0.062 Patients_Q37.5_right 3 48 Admin
./. - c.395-8153C>T - r.(=) p.(=) - g.95494027G>A dbSNP PTCH1_000007 0.069 Patients_Q37 4 58 Admin
./. - c.395-8079A>C - r.(=) p.(=) - g.95493953T>G dbSNP PTCH1_000006 0.085 Control 60 710 Admin
./. - c.395-8079A>C - r.(=) p.(=) - g.95493953T>G dbSNP PTCH1_000006 0.250 Patients_Q37.2 1 4 Admin
./. - c.395-8079A>C - r.(=) p.(=) - g.95493953T>G dbSNP PTCH1_000006 0.167 Patients_Q37.3_right 1 6 Admin
./. - c.395-8079A>C - r.(=) p.(=) - g.95493953T>G dbSNP PTCH1_000006 0.047 Patients_Q37.4 5 106 Admin
./. - c.395-8079A>C - r.(=) p.(=) - g.95493953T>G dbSNP PTCH1_000006 0.083 Patients_Q37.5_left 10 120 Admin
./. - c.395-8079A>C - r.(=) p.(=) - g.95493953T>G dbSNP PTCH1_000006 0.021 Patients_Q37.5_right 1 48 Admin
./. - c.395-8079A>C - r.(=) p.(=) - g.95493953T>G dbSNP PTCH1_000006 0.017 Patients_Q37 1 58 Admin
./. - c.747-55T>C - r.(=) p.(=) - g.95480643A>G dbSNP PTCH1_000005 0.210 Control 150 714 Admin
./. - c.747-55T>C - r.(=) p.(=) - g.95480643A>G dbSNP PTCH1_000005 0.500 Patients_Q37.2 2 4 Admin
./. - c.747-55T>C - r.(=) p.(=) - g.95480643A>G dbSNP PTCH1_000005 0.333 Patients_Q37.3_right 2 6 Admin
./. - c.747-55T>C - r.(=) p.(=) - g.95480643A>G dbSNP PTCH1_000005 0.198 Patients_Q37.4 21 106 Admin
./. - c.747-55T>C - r.(=) p.(=) - g.95480643A>G dbSNP PTCH1_000005 0.500 Patients_Q37.5 2 4 Admin
./. - c.747-55T>C - r.(=) p.(=) - g.95480643A>G dbSNP PTCH1_000005 0.212 Patients_Q37.5_left 25 118 Admin
./. - c.747-55T>C - r.(=) p.(=) - g.95480643A>G dbSNP PTCH1_000005 0.152 Patients_Q37.5_right 7 46 Admin
./. - c.747-55T>C - r.(=) p.(=) - g.95480643A>G dbSNP PTCH1_000005 0.207 Patients_Q37 12 58 Admin
./. - c.1504-51C>G - r.(=) p.(=) - g.95476908G>C dbSNP PTCH1_000004 0.284 Control 203 714 Admin
./. - c.1504-51C>G - r.(=) p.(=) - g.95476908G>C dbSNP PTCH1_000004 0.250 Patients_Q37.2 1 4 Admin
./. - c.1504-51C>G - r.(=) p.(=) - g.95476908G>C dbSNP PTCH1_000004 0.500 Patients_Q37.3_left 2 4 Admin
./. - c.1504-51C>G - r.(=) p.(=) - g.95476908G>C dbSNP PTCH1_000004 0.500 Patients_Q37.3_right 3 6 Admin
./. - c.1504-51C>G - r.(=) p.(=) - g.95476908G>C dbSNP PTCH1_000004 0.212 Patients_Q37.4 22 104 Admin
./. - c.1504-51C>G - r.(=) p.(=) - g.95476908G>C dbSNP PTCH1_000004 0.500 Patients_Q37.5 2 4 Admin
./. - c.1504-51C>G - r.(=) p.(=) - g.95476908G>C dbSNP PTCH1_000004 0.300 Patients_Q37.5_left 36 120 Admin
./. - c.1504-51C>G - r.(=) p.(=) - g.95476908G>C dbSNP PTCH1_000004 0.250 Patients_Q37.5_right 12 48 Admin
./. - c.1504-51C>G - r.(=) p.(=) - g.95476908G>C dbSNP PTCH1_000004 0.224 Patients_Q37 13 58 Admin
./. - c.1686C>T - r.(=) p.(=) - g.95476076G>A dbSNP PTCH1_000003 0.172 Control 123 714 Admin
./. - c.1686C>T - r.(=) p.(=) - g.95476076G>A dbSNP PTCH1_000003 0.250 Patients_Q37.2 1 4 Admin
./. - c.1686C>T - r.(=) p.(=) - g.95476076G>A dbSNP PTCH1_000003 0.333 Patients_Q37.3_right 2 6 Admin
./. - c.1686C>T - r.(=) p.(=) - g.95476076G>A dbSNP PTCH1_000003 0.104 Patients_Q37.4 11 106 Admin
./. - c.1686C>T - r.(=) p.(=) - g.95476076G>A dbSNP PTCH1_000003 0.500 Patients_Q37.5 2 4 Admin
./. - c.1686C>T - r.(=) p.(=) - g.95476076G>A dbSNP PTCH1_000003 0.125 Patients_Q37.5_left 15 120 Admin
./. - c.1686C>T - r.(=) p.(=) - g.95476076G>A dbSNP PTCH1_000003 0.125 Patients_Q37.5_right 6 48 Admin
./. - c.1686C>T - r.(=) p.(=) - g.95476076G>A dbSNP PTCH1_000003 0.172 Patients_Q37 10 58 Admin
./. - c.3944C>T - r.(?) p.(Pro1315Leu) - g.95447312G>A dbSNP PTCH1_000002 0.355 Control 250 704 Admin
./. - c.3944C>T - r.(?) p.(Pro1315Leu) - g.95447312G>A dbSNP PTCH1_000002 0.750 Patients_Q37.3_left 3 4 Admin
./. - c.3944C>T - r.(?) p.(Pro1315Leu) - g.95447312G>A dbSNP PTCH1_000002 0.333 Patients_Q37.3_right 2 6 Admin
./. - c.3944C>T - r.(?) p.(Pro1315Leu) - g.95447312G>A dbSNP PTCH1_000002 0.363 Patients_Q37.4 37 102 Admin
./. - c.3944C>T - r.(?) p.(Pro1315Leu) - g.95447312G>A dbSNP PTCH1_000002 0.345 Patients_Q37.5_left 40 116 Admin
./. - c.3944C>T - r.(?) p.(Pro1315Leu) - g.95447312G>A dbSNP PTCH1_000002 0.333 Patients_Q37.5_right 16 48 Admin
./. - c.3944C>T - r.(?) p.(Pro1315Leu) - g.95447312G>A dbSNP PTCH1_000002 0.397 Patients_Q37 23 58 Admin
./. - c.*1373G>C - r.(=) p.(=) - g.95445020C>G dbSNP PTCH1_000001 0.071 Control 51 714 Admin
./. - c.*1373G>C - r.(=) p.(=) - g.95445020C>G dbSNP PTCH1_000001 0.087 Patients_Q37.4 9 104 Admin
./. - c.*1373G>C - r.(=) p.(=) - g.95445020C>G dbSNP PTCH1_000001 0.050 Patients_Q37.5_left 6 120 Admin
./. - c.*1373G>C - r.(=) p.(=) - g.95445020C>G dbSNP PTCH1_000001 0.042 Patients_Q37.5_right 2 48 Admin
./. - c.*1373G>C - r.(=) p.(=) - g.95445020C>G dbSNP PTCH1_000001 0.069 Patients_Q37 4 58 Admin
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