NM_001184880.2(PCDH19):c.128C>T (p.Ala43Val)
|
rs1064795511
|
0.00002
|
NM_001184880.2(PCDH19):c.1019A>C (p.Asn340Thr)
|
rs796052839
|
|
NM_001184880.2(PCDH19):c.1031C>A (p.Pro344Gln)
|
rs796052811
|
|
NM_001184880.2(PCDH19):c.1123G>A (p.Asp375Asn)
|
rs1928407580
|
|
NM_001184880.2(PCDH19):c.1335C>A (p.Asp445Glu)
|
rs796052815
|
|
NM_001184880.2(PCDH19):c.1351C>T (p.Pro451Ser)
|
rs796052816
|
|
NM_001184880.2(PCDH19):c.1372T>C (p.Tyr458His)
|
rs1064794762
|
|
NM_001184880.2(PCDH19):c.1435G>A (p.Asp479Asn)
|
rs1064794763
|
|
NM_001184880.2(PCDH19):c.1441G>A (p.Asp481Asn)
|
|
|
NM_001184880.2(PCDH19):c.1469A>C (p.Tyr490Ser)
|
rs1555985142
|
|
NM_001184880.2(PCDH19):c.1478_1485del (p.Val493fs)
|
rs1131692002
|
|
NM_001184880.2(PCDH19):c.1639G>C (p.Ala547Pro)
|
rs1928375454
|
|
NM_001184880.2(PCDH19):c.1681C>G (p.Pro561Ala)
|
rs1569314471
|
|
NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg)
|
rs796052819
|
|
NM_001184880.2(PCDH19):c.1693G>C (p.Ala565Pro)
|
rs1316928806
|
|
NM_001184880.2(PCDH19):c.1700C>T (p.Pro567Leu)
|
rs201989363
|
|
NM_001184880.2(PCDH19):c.1720G>T (p.Glu574Ter)
|
rs1064797376
|
|
NM_001184880.2(PCDH19):c.1815C>G (p.Tyr605Ter)
|
rs1057521256
|
|
NM_001184880.2(PCDH19):c.1873A>G (p.Arg625Gly)
|
rs796052822
|
|
NM_001184880.2(PCDH19):c.21_39del (p.Val8fs)
|
rs1555985864
|
|
NM_001184880.2(PCDH19):c.2676-1_2683del
|
rs1064794781
|
|
NM_001184880.2(PCDH19):c.295T>A (p.Cys99Ser)
|
rs1064795237
|
|
NM_001184880.2(PCDH19):c.298ATC[1] (p.Ile101del)
|
rs796052825
|
|
NM_001184880.2(PCDH19):c.311dup (p.Val105fs)
|
rs1555985745
|
|
NM_001184880.2(PCDH19):c.3187del (p.Ser1063fs)
|
rs2147445956
|
|
NM_001184880.2(PCDH19):c.361G>A (p.Asp121Asn)
|
rs796052795
|
|
NM_001184880.2(PCDH19):c.361G>C (p.Asp121His)
|
rs796052795
|
|
NM_001184880.2(PCDH19):c.369C>A (p.Asn123Lys)
|
rs796052796
|
|
NM_001184880.2(PCDH19):c.369C>G (p.Asn123Lys)
|
rs796052796
|
|
NM_001184880.2(PCDH19):c.370G>T (p.Asp124Tyr)
|
rs796052797
|
|
NM_001184880.2(PCDH19):c.374A>G (p.Asn125Ser)
|
rs398123603
|
|
NM_001184880.2(PCDH19):c.379C>T (p.Pro127Ser)
|
rs1928462873
|
|
NM_001184880.2(PCDH19):c.409G>T (p.Glu137Ter)
|
rs1555985689
|
|
NM_001184880.2(PCDH19):c.424G>C (p.Ala142Pro)
|
rs796052798
|
|
NM_001184880.2(PCDH19):c.437C>G (p.Thr146Arg)
|
rs796052799
|
|
NM_001184880.2(PCDH19):c.565G>T (p.Glu189Ter)
|
rs1602637696
|
|
NM_001184880.2(PCDH19):c.593G>T (p.Arg198Leu)
|
rs772837341
|
|
NM_001184880.2(PCDH19):c.634G>C (p.Asp212His)
|
rs796052806
|
|
NM_001184880.2(PCDH19):c.671T>C (p.Leu224Pro)
|
rs2147540985
|
|
NM_001184880.2(PCDH19):c.697G>T (p.Asp233Tyr)
|
rs1555985482
|
|
NM_001184880.2(PCDH19):c.701A>G (p.Asn234Ser)
|
rs1555985475
|
|
NM_001184880.2(PCDH19):c.707C>G (p.Pro236Arg)
|
rs1060502176
|
|
NM_001184880.2(PCDH19):c.811_825del (p.Gly271_Tyr275del)
|
rs2147540480
|
|
NM_001184880.2(PCDH19):c.865_868del (p.Phe289fs)
|
rs1064797377
|
|
NM_001184880.2(PCDH19):c.878dup (p.His294fs)
|
rs1131691362
|
|
NM_001184880.2(PCDH19):c.927del (p.His310fs)
|
rs1555985389
|
|
NM_001184880.2(PCDH19):c.92A>T (p.Glu31Val)
|
rs1064795834
|
|