|
NM_000264.3(PTCH1):c.3450delG
|
rs1131691001
|
|
|
NM_000264.5(PTCH1):c.1001_1010del (p.Tyr334fs)
|
rs1554699612
|
|
|
NM_000264.5(PTCH1):c.1022T>A (p.Leu341Ter)
|
rs1131690970
|
|
|
NM_000264.5(PTCH1):c.1119del (p.Met372_Tyr373insTer)
|
rs1131691002
|
|
|
NM_000264.5(PTCH1):c.1209T>G (p.Tyr403Ter)
|
rs1432645175
|
|
|
NM_000264.5(PTCH1):c.1334del (p.Gly445fs)
|
rs1131690978
|
|
|
NM_000264.5(PTCH1):c.1341dup (p.Leu448fs)
|
rs1588602354
|
|
|
NM_000264.5(PTCH1):c.1350del (p.Ala451fs)
|
rs1588601051
|
|
|
NM_000264.5(PTCH1):c.1355del (p.Tyr452fs)
|
|
|
|
NM_000264.5(PTCH1):c.1379G>A (p.Trp460Ter)
|
rs1131690974
|
|
|
NM_000264.5(PTCH1):c.1504-2A>C
|
rs1131690984
|
|
|
NM_000264.5(PTCH1):c.1526G>A (p.Gly509Asp)
|
rs1060502268
|
|
|
NM_000264.5(PTCH1):c.1603-2A>C
|
rs1064793921
|
|
|
NM_000264.5(PTCH1):c.1694_1697del (p.Ile565fs)
|
|
|
|
NM_000264.5(PTCH1):c.187G>T (p.Glu63Ter)
|
rs781768965
|
|
|
NM_000264.5(PTCH1):c.202-2A>C
|
rs878853849
|
|
|
NM_000264.5(PTCH1):c.202-2A>G
|
rs878853849
|
|
|
NM_000264.5(PTCH1):c.2585dup (p.Asp862fs)
|
|
|
|
NM_000264.5(PTCH1):c.258_259del (p.Leu87fs)
|
rs864622212
|
|
|
NM_000264.5(PTCH1):c.2598del (p.Ile868fs)
|
rs1131690975
|
|
|
NM_000264.5(PTCH1):c.262_265del (p.Phe88fs)
|
rs2118879343
|
|
|
NM_000264.5(PTCH1):c.2762_2765dup (p.Thr924fs)
|
rs1131690972
|
|
|
NM_000264.5(PTCH1):c.2794del (p.Val932fs)
|
rs1131690997
|
|
|
NM_000264.5(PTCH1):c.279del (p.Cys92_Tyr93insTer)
|
rs1554708753
|
|
|
NM_000264.5(PTCH1):c.2822del (p.Ile941fs)
|
|
|
|
NM_000264.5(PTCH1):c.2833C>T (p.Arg945Ter)
|
rs1064794260
|
|
|
NM_000264.5(PTCH1):c.283C>T (p.Gln95Ter)
|
rs1587693508
|
|
|
NM_000264.5(PTCH1):c.2872del (p.Glu958fs)
|
|
|
|
NM_000264.5(PTCH1):c.2929del (p.Tyr977fs)
|
|
|
|
NM_000264.5(PTCH1):c.294C>A (p.Cys98Ter)
|
rs1131690968
|
|
|
NM_000264.5(PTCH1):c.297C>T (p.Gly99=)
|
rs772407797
|
|
|
NM_000264.5(PTCH1):c.3027C>A (p.Tyr1009Ter)
|
rs747234651
|
|
|
NM_000264.5(PTCH1):c.3139_3142del (p.Phe1046_Leu1047insTer)
|
rs1131690980
|
|
|
NM_000264.5(PTCH1):c.3150del (p.Trp1051fs)
|
rs1588539623
|
|
|
NM_000264.5(PTCH1):c.3152G>A (p.Trp1051Ter)
|
rs1060502301
|
|
|
NM_000264.5(PTCH1):c.3250dup (p.Val1084fs)
|
rs1588535611
|
|
|
NM_000264.5(PTCH1):c.3298_3306+3del
|
|
|
|
NM_000264.5(PTCH1):c.3364_3365del (p.Met1122fs)
|
rs1060502273
|
|
|
NM_000264.5(PTCH1):c.3459del (p.Phe1153fs)
|
rs1131690976
|
|
|
NM_000264.5(PTCH1):c.3516del (p.Val1173fs)
|
|
|
|
NM_000264.5(PTCH1):c.371_387del (p.Asn124fs)
|
rs1554708626
|
|
|
NM_000264.5(PTCH1):c.394+1G>A
|
rs1131690995
|
|
|
NM_000264.5(PTCH1):c.403C>T (p.Arg135Ter)
|
rs1131690986
|
|
|
NM_000264.5(PTCH1):c.448G>T (p.Glu150Ter)
|
rs1344258746
|
|
|
NM_000264.5(PTCH1):c.456del (p.Met152fs)
|
|
|
|
NM_000264.5(PTCH1):c.482_491del (p.Thr161fs)
|
rs1131690981
|
|
|
NM_000264.5(PTCH1):c.497del (p.Gly166fs)
|
|
|
|
NM_000264.5(PTCH1):c.585-15_586del
|
|
|
|
NM_000264.5(PTCH1):c.594del (p.Lys198fs)
|
|
|
|
NM_000264.5(PTCH1):c.613A>T (p.Lys205Ter)
|
|
|
|
NM_000264.5(PTCH1):c.661G>T (p.Glu221Ter)
|
rs1554700647
|
|
|
NM_000264.5(PTCH1):c.665_666del (p.Tyr222fs)
|
rs1131690993
|
|
|
NM_000264.5(PTCH1):c.672C>A (p.Tyr224Ter)
|
rs1588614178
|
|
|
NM_000264.5(PTCH1):c.689C>T (p.Thr230Ile)
|
rs1554700630
|
|
|
NM_000264.5(PTCH1):c.715dup (p.Ala239fs)
|
rs1131690971
|
|
|
NM_000264.5(PTCH1):c.741C>A (p.Tyr247Ter)
|
rs1060502281
|
|
|
NM_000264.5(PTCH1):c.746+1G>C
|
rs1131690994
|
|
|
NM_000264.5(PTCH1):c.805_806dup (p.Lys270fs)
|
|
|
|
NM_000264.5(PTCH1):c.807_810del (p.Lys269_Lys270insTer)
|
rs1131690969
|
|
|
NM_000264.5(PTCH1):c.877_887del (p.Asp293fs)
|
rs1131690973
|
|
|
NM_000264.5(PTCH1):c.886del (p.Cys296fs)
|
rs1131690987
|
|
|
NM_000264.5(PTCH1):c.941_944del (p.Thr314fs)
|
|
|
|
NM_000264.5(PTCH1):c.945+1G>A
|
rs863224444
|
|
|
NM_000264.5(PTCH1):c.945+2T>C
|
rs1131690979
|
|
|
NM_000264.5(PTCH1):c.954dup (p.Met319fs)
|
|
|