NM_000264.5(PTCH1):c.4013G>A (p.Arg1338His)
|
rs771238114
|
0.00005
|
NM_000264.5(PTCH1):c.3422C>T (p.Ala1141Val)
|
rs376844749
|
0.00004
|
NM_000264.5(PTCH1):c.3808G>A (p.Val1270Ile)
|
rs938997251
|
0.00003
|
NM_000264.5(PTCH1):c.727T>C (p.Ser243Pro)
|
rs372422922
|
0.00003
|
NM_000264.5(PTCH1):c.899C>T (p.Ala300Val)
|
rs1421967825
|
0.00003
|
NM_000264.5(PTCH1):c.4129G>A (p.Val1377Met)
|
rs745337014
|
0.00002
|
NM_000264.5(PTCH1):c.1025T>C (p.Ile342Thr)
|
rs1841403085
|
0.00001
|
NM_000264.5(PTCH1):c.1043A>G (p.Lys348Arg)
|
rs1476325987
|
0.00001
|
NM_000264.5(PTCH1):c.322A>G (p.Ile108Val)
|
rs1338490449
|
0.00001
|
NM_000264.5(PTCH1):c.3295C>G (p.His1099Asp)
|
rs1426410745
|
0.00001
|
NM_000264.5(PTCH1):c.329G>C (p.Gly110Ala)
|
rs1060502284
|
0.00001
|
NM_000264.5(PTCH1):c.3317C>T (p.Thr1106Met)
|
rs769691754
|
0.00001
|
NM_000264.5(PTCH1):c.3331A>G (p.Lys1111Glu)
|
rs1838665681
|
0.00001
|
NM_000264.5(PTCH1):c.3449+10C>T
|
rs371546179
|
0.00001
|
NM_000264.5(PTCH1):c.3574C>T (p.Arg1192Cys)
|
rs571420165
|
0.00001
|
NM_000264.5(PTCH1):c.3664G>A (p.Asp1222Asn)
|
rs747181820
|
0.00001
|
NM_000264.5(PTCH1):c.3743G>A (p.Gly1248Glu)
|
rs375857496
|
0.00001
|
NM_000264.5(PTCH1):c.3748C>T (p.Pro1250Ser)
|
rs1060502265
|
0.00001
|
NM_000264.5(PTCH1):c.4058C>T (p.Ala1353Val)
|
rs777096311
|
0.00001
|
NM_000264.5(PTCH1):c.4063A>G (p.Thr1355Ala)
|
rs864622456
|
0.00001
|
NM_000264.5(PTCH1):c.4183G>A (p.Gly1395Arg)
|
rs375626922
|
0.00001
|
NM_000264.5(PTCH1):c.4195C>T (p.Pro1399Ser)
|
rs1275384199
|
0.00001
|
NM_000264.5(PTCH1):c.500C>A (p.Ala167Asp)
|
rs587780707
|
0.00001
|
NM_000264.5(PTCH1):c.878A>G (p.Asp293Gly)
|
rs768095469
|
0.00001
|
NM_000264.5(PTCH1):c.905C>G (p.Pro302Arg)
|
rs1487227339
|
0.00001
|
NM_000264.5(PTCH1):c.1165G>A (p.Glu389Lys)
|
rs1841320331
|
|
NM_000264.5(PTCH1):c.1216-1G>A
|
rs1564051834
|
|
NM_000264.5(PTCH1):c.1221TCA[1] (p.His408del)
|
rs1489690325
|
|
NM_000264.5(PTCH1):c.1242C>G (p.Asn414Lys)
|
|
|
NM_000264.5(PTCH1):c.1244C>G (p.Ser415Cys)
|
rs1588602943
|
|
NM_000264.5(PTCH1):c.1324G>T (p.Val442Leu)
|
rs759493890
|
|
NM_000264.5(PTCH1):c.1342C>G (p.Leu448Val)
|
rs537871675
|
|
NM_000264.5(PTCH1):c.1417G>C (p.Gly473Arg)
|
|
|
NM_000264.5(PTCH1):c.1546T>G (p.Phe516Val)
|
rs1554698288
|
|
NM_000264.5(PTCH1):c.1571A>C (p.Glu524Ala)
|
rs2118281472
|
|
NM_000264.5(PTCH1):c.2672G>C (p.Gly891Ala)
|
|
|
NM_000264.5(PTCH1):c.280A>G (p.Ile94Val)
|
rs1843660253
|
|
NM_000264.5(PTCH1):c.2825G>A (p.Arg942Gln)
|
rs767225445
|
|
NM_000264.5(PTCH1):c.3064A>G (p.Ile1022Val)
|
rs1003711941
|
|
NM_000264.5(PTCH1):c.308T>C (p.Val103Ala)
|
|
|
NM_000264.5(PTCH1):c.3223G>A (p.Gly1075Arg)
|
rs1838926237
|
|
NM_000264.5(PTCH1):c.3268G>A (p.Val1090Ile)
|
|
|
NM_000264.5(PTCH1):c.3278G>A (p.Gly1093Glu)
|
|
|
NM_000264.5(PTCH1):c.3346G>A (p.Val1116Met)
|
rs201605273
|
|
NM_000264.5(PTCH1):c.3355C>G (p.Leu1119Val)
|
|
|
NM_000264.5(PTCH1):c.3394T>A (p.Ser1132Thr)
|
rs878853856
|
|
NM_000264.5(PTCH1):c.3400C>G (p.Leu1134Val)
|
rs1838656000
|
|
NM_000264.5(PTCH1):c.3443T>A (p.Ile1148Asn)
|
|
|
NM_000264.5(PTCH1):c.3463G>A (p.Val1155Met)
|
rs1588519562
|
|
NM_000264.5(PTCH1):c.3565G>T (p.Gly1189Cys)
|
rs767535853
|
|
NM_000264.5(PTCH1):c.3590C>G (p.Ser1197Cys)
|
rs1588517764
|
|
NM_000264.5(PTCH1):c.3712C>T (p.Leu1238Phe)
|
|
|
NM_000264.5(PTCH1):c.3754C>T (p.His1252Tyr)
|
|
|
NM_000264.5(PTCH1):c.3792C>A (p.Phe1264Leu)
|
|
|
NM_000264.5(PTCH1):c.3805G>A (p.Val1269Met)
|
rs1838059096
|
|
NM_000264.5(PTCH1):c.3856C>T (p.Pro1286Ser)
|
|
|
NM_000264.5(PTCH1):c.3901C>T (p.Gln1301Ter)
|
|
|
NM_000264.5(PTCH1):c.3921dup (p.Arg1308fs)
|
rs761353734
|
|
NM_000264.5(PTCH1):c.3924A>T (p.Arg1308Ser)
|
rs762725821
|
|
NM_000264.5(PTCH1):c.4009G>A (p.Ala1337Thr)
|
|
|
NM_000264.5(PTCH1):c.4019G>A (p.Gly1340Asp)
|
rs1218728112
|
|
NM_000264.5(PTCH1):c.4044C>G (p.Asn1348Lys)
|
rs1412873206
|
|
NM_000264.5(PTCH1):c.4077C>A (p.Ser1359Arg)
|
|
|
NM_000264.5(PTCH1):c.4139C>T (p.Ala1380Val)
|
rs777641179
|
|
NM_000264.5(PTCH1):c.4160CTGGGC[3] (p.1387PG[3])
|
rs1060502272
|
|
NM_000264.5(PTCH1):c.4298A>T (p.Gln1433Leu)
|
rs772802013
|
|
NM_000264.5(PTCH1):c.4315G>T (p.Glu1439Ter)
|
rs2136570815
|
|
NM_000264.5(PTCH1):c.4340A>G (p.Asn1447Ser)
|
rs972576439
|
|
NM_000264.5(PTCH1):c.4341C>A (p.Asn1447Lys)
|
|
|
NM_000264.5(PTCH1):c.566A>G (p.His189Arg)
|
|
|
NM_000264.5(PTCH1):c.659T>C (p.Ile220Thr)
|
|
|
NM_000264.5(PTCH1):c.755C>G (p.Pro252Arg)
|
rs1554700016
|
|
NM_000264.5(PTCH1):c.899C>A (p.Ala300Asp)
|
|
|
NM_001083603.3(PTCH1):c.74del (p.Pro25fs)
|
rs1350435311
|
|