NM_000264.5(PTCH1):c.*3341T>C
|
rs138499623
|
0.00884
|
NM_000264.5(PTCH1):c.1641C>T (p.Ser547=)
|
rs2066830
|
0.00827
|
NM_000264.5(PTCH1):c.*2276A>T
|
rs868749157
|
0.00625
|
NM_000264.5(PTCH1):c.3692T>C (p.Val1231Ala)
|
rs182045135
|
0.00128
|
NM_000264.5(PTCH1):c.4048C>T (p.Arg1350Trp)
|
rs140417636
|
0.00086
|
NM_000264.5(PTCH1):c.*1132G>A
|
rs572803728
|
0.00083
|
NM_000264.5(PTCH1):c.3633C>G (p.Pro1211=)
|
rs56007343
|
0.00067
|
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met)
|
rs138911275
|
0.00066
|
NM_000264.5(PTCH1):c.2787C>T (p.Asn929=)
|
rs145196322
|
0.00065
|
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser)
|
rs113663584
|
0.00057
|
NM_000264.5(PTCH1):c.3954G>A (p.Pro1318=)
|
rs45529536
|
0.00054
|
NM_000264.5(PTCH1):c.*2175G>A
|
rs188061818
|
0.00051
|
NM_000264.5(PTCH1):c.4128C>T (p.Ser1376=)
|
rs142148876
|
0.00051
|
NM_000264.5(PTCH1):c.3687G>A (p.Thr1229=)
|
rs139123130
|
0.00048
|
NM_000264.5(PTCH1):c.4324C>T (p.Arg1442Trp)
|
rs143464326
|
0.00043
|
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln)
|
rs56023271
|
0.00036
|
NM_000264.5(PTCH1):c.1216-6C>A
|
rs186008764
|
0.00027
|
NM_001083603.3(PTCH1):c.78G>C (p.Ala26=)
|
rs200948177
|
0.00022
|
NM_000264.5(PTCH1):c.3919C>T (p.Pro1307Ser)
|
rs574880967
|
0.00021
|
NM_000264.5(PTCH1):c.3617G>A (p.Arg1206His)
|
rs560967532
|
0.00017
|
NM_000264.5(PTCH1):c.567T>C (p.His189=)
|
rs150759973
|
0.00016
|
NM_000264.5(PTCH1):c.3839C>T (p.Ser1280Leu)
|
rs201595274
|
0.00014
|
NM_000264.5(PTCH1):c.3376G>A (p.Val1126Ile)
|
rs147025073
|
0.00012
|
NM_000264.5(PTCH1):c.324A>G (p.Ile108Met)
|
rs144182921
|
0.00010
|
NM_000264.5(PTCH1):c.3816C>T (p.Pro1272=)
|
rs369295226
|
0.00009
|
NM_000264.5(PTCH1):c.4302C>T (p.Asp1434=)
|
rs201357130
|
0.00008
|
NM_000264.5(PTCH1):c.3963C>T (p.Asp1321=)
|
rs139071993
|
0.00007
|
NM_000264.5(PTCH1):c.882C>T (p.Arg294=)
|
rs145893445
|
0.00007
|
NM_000264.5(PTCH1):c.4212T>C (p.Thr1404=)
|
rs139086753
|
0.00006
|
NM_001083603.3(PTCH1):c.157G>C (p.Glu53Gln)
|
rs185570125
|
0.00004
|
NM_000264.5(PTCH1):c.3247G>A (p.Val1083Met)
|
rs202052415
|
0.00003
|
NM_000264.5(PTCH1):c.3291C>T (p.Thr1097=)
|
rs141016655
|
0.00003
|
NM_000264.5(PTCH1):c.3634G>A (p.Gly1212Ser)
|
rs559827048
|
0.00003
|
NM_000264.5(PTCH1):c.3890G>A (p.Arg1297Gln)
|
rs386833412
|
0.00003
|
NM_000264.5(PTCH1):c.4251C>T (p.His1417=)
|
rs371960721
|
0.00003
|
NM_000264.5(PTCH1):c.3913G>T (p.Asp1305Tyr)
|
rs368528885
|
0.00002
|
NM_000264.5(PTCH1):c.2685G>A (p.Lys895=)
|
rs1431878972
|
0.00001
|
NM_000264.5(PTCH1):c.3169-5T>C
|
rs367654039
|
0.00001
|
NM_000264.5(PTCH1):c.3292G>A (p.Val1098Ile)
|
rs748726158
|
0.00001
|
NM_000264.5(PTCH1):c.4152G>A (p.Pro1384=)
|
rs761887390
|
0.00001
|
NM_000264.5(PTCH1):c.526C>T (p.Leu176=)
|
rs2066834
|
0.00001
|
NM_000264.5(PTCH1):c.907G>C (p.Asp303His)
|
rs1172719429
|
0.00001
|
GRCh37/hg19 9q22.32(chr9:98209194-98279102)x1
|
|
|
NM_000264.5(PTCH1):c.*1866TG[7]
|
|
|
NM_000264.5(PTCH1):c.*1884CGTG[4]
|
|
|
NM_000264.5(PTCH1):c.1028_1029dup (p.Gly344fs)
|
|
|
NM_000264.5(PTCH1):c.1031del (p.Gly344fs)
|
rs2118389988
|
|
NM_000264.5(PTCH1):c.1252_1253del (p.Lys418fs)
|
rs2118337307
|
|
NM_000264.5(PTCH1):c.1347+1G>C
|
rs1588602262
|
|
NM_000264.5(PTCH1):c.1435_1436del (p.Leu479fs)
|
|
|
NM_000264.5(PTCH1):c.260dup (p.Leu87fs)
|
rs2118879524
|
|
NM_000264.5(PTCH1):c.2703+2T>A
|
rs2136686524
|
|
NM_000264.5(PTCH1):c.2888-8C>T
|
rs567994836
|
|
NM_000264.5(PTCH1):c.290dup (p.Asn97fs)
|
rs1554708751
|
|
NM_000264.5(PTCH1):c.3204C>T (p.Phe1068=)
|
rs762419846
|
|
NM_000264.5(PTCH1):c.3246C>A (p.Pro1082=)
|
|
|
NM_000264.5(PTCH1):c.3275T>A (p.Ile1092Lys)
|
rs1588535471
|
|
NM_000264.5(PTCH1):c.3395C>T (p.Ser1132Phe)
|
rs1588528503
|
|
NM_000264.5(PTCH1):c.3406G>C (p.Gly1136Arg)
|
rs1838655420
|
|
NM_000264.5(PTCH1):c.3408A>G (p.Gly1136=)
|
rs769601779
|
|
NM_000264.5(PTCH1):c.3601C>T (p.Pro1201Ser)
|
rs1838233287
|
|
NM_000264.5(PTCH1):c.3633C>T (p.Pro1211=)
|
rs56007343
|
|
NM_000264.5(PTCH1):c.3745G>C (p.Gly1249Arg)
|
rs769446796
|
|
NM_000264.5(PTCH1):c.3866A>T (p.Asp1289Val)
|
rs1588512163
|
|
NM_000264.5(PTCH1):c.4080C>T (p.Ser1360=)
|
rs62637631
|
|
NM_000264.5(PTCH1):c.4116G>T (p.Thr1372=)
|
rs776937004
|
|
NM_000264.5(PTCH1):c.4142T>C (p.Val1381Ala)
|
|
|
NM_000264.5(PTCH1):c.4191C>G (p.Leu1397=)
|
rs754826635
|
|
NM_000264.5(PTCH1):c.488AAG[2] (p.Glu165del)
|
rs1201611173
|
|
NM_000264.5(PTCH1):c.591G>T (p.Trp197Cys)
|
rs1841597665
|
|
NM_000264.5(PTCH1):c.660A>G (p.Ile220Met)
|
rs1564057952
|
|
NM_000264.5(PTCH1):c.875T>C (p.Met292Thr)
|
rs748727674
|
|
NM_000264.5(PTCH1):c.999G>A (p.Lys333=)
|
|
|
NM_001083603.3(PTCH1):c.130GAA[6] (p.Glu48_Asn49insGlu)
|
rs112914470
|
|
NM_001083603.3(PTCH1):c.149GAG[1] (p.Gly51del)
|
|
|