Full data view for gene PCDHB16

Information The variants shown are described using the NM_020957.1 transcript reference sequence.

113 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-46T>C r.(=) p.(=) g.140562089T>C Copied from the Exome Variant Server PCDHB16_000001 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-32G>A r.(=) p.(=) g.140562103G>A Copied from the Exome Variant Server PCDHB16_000002 193/13006 0/8600 193/4406 - - - - - - -
?/? c.-11A>C r.(=) p.(=) g.140562124A>C Copied from the Exome Variant Server PCDHB16_000003 3/13006 3/8600 0/4406 - - - - - - -
?/? c.-10A>T r.(=) p.(=) g.140562125A>T Copied from the Exome Variant Server PCDHB16_000004 1/13006 0/8600 1/4406 - - - - - - -
?/? c.-1A>G r.(=) p.(=) g.140562134A>G Copied from the Exome Variant Server PCDHB16_000005 1/13006 0/8600 1/4406 - - - - - - -
?/? c.25C>T r.(?) p.(Arg9Trp) g.140562159C>T Copied from the Exome Variant Server PCDHB16_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.67T>C r.(=) p.(=) g.140562201T>C Copied from the Exome Variant Server PCDHB16_000009 1/13006 1/8600 0/4406 - - - - - - -
?/? c.71C>T r.(?) p.(Ser24Phe) g.140562205C>T Copied from the Exome Variant Server PCDHB16_000006 1/13006 1/8600 0/4406 - - - - - - -
?/? c.93G>A r.(=) p.(=) g.140562227G>A Copied from the Exome Variant Server PCDHB16_000008 46/13006 0/8600 46/4406 - - - - - - -
?/? c.102C>T r.(=) p.(=) g.140562236C>T Copied from the Exome Variant Server PCDHB16_000010 85/13006 0/8600 85/4406 - - - - - - -
?/? c.120G>A r.(=) p.(=) g.140562254G>A Copied from the Exome Variant Server PCDHB16_000011 6/13006 5/8600 1/4406 - - - - - - -
?/? c.151G>T r.(?) p.(Asp51Tyr) g.140562285G>T Copied from the Exome Variant Server PCDHB16_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.158G>C r.(?) p.(Gly53Ala) g.140562292G>C Copied from the Exome Variant Server PCDHB16_000013 6/13006 6/8600 0/4406 - - - - - - -
?/? c.170C>T r.(?) p.(Thr57Ile) g.140562304C>T Copied from the Exome Variant Server PCDHB16_000014 7/13006 4/8600 3/4406 - - - - - - -
?/? c.206_207insG r.(?) p.(Asn71Glufs*18) g.140562340_140562341insG Copied from the Exome Variant Server PCDHB16_000015 1/12508 1/8250 0/4258 - - - - - - -
?/? c.242C>G r.(?) p.(Thr81Ser) g.140562376C>G Copied from the Exome Variant Server PCDHB16_000016 1/13006 1/8600 0/4406 - - - - - - -
?/? c.260A>C r.(?) p.(Asn87Thr) g.140562394A>C Copied from the Exome Variant Server PCDHB16_000017 1/13006 1/8600 0/4406 - - - - - - -
?/? c.273T>G r.(?) p.(Asp91Glu) g.140562407T>G Copied from the Exome Variant Server PCDHB16_000018 61/13006 0/8600 61/4406 - - - - - - -
?/? c.310C>T r.(=) p.(=) g.140562444C>T Copied from the Exome Variant Server PCDHB16_000019 2/13006 0/8600 2/4406 - - - - - - -
?/? c.395T>C r.(?) p.(Met132Thr) g.140562529T>C Copied from the Exome Variant Server PCDHB16_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.443T>C r.(?) p.(Leu148Pro) g.140562577T>C Copied from the Exome Variant Server PCDHB16_000021 1/13000 0/8600 1/4400 - - - - - - -
?/? c.483C>T r.(=) p.(=) g.140562617C>T Copied from the Exome Variant Server PCDHB16_000022 2/12998 0/8598 2/4400 - - - - - - -
?/? c.500T>C r.(?) p.(Val167Ala) g.140562634T>C Copied from the Exome Variant Server PCDHB16_000023 41/12998 34/8596 7/4402 - - - - - - -
?/? c.512A>C r.(?) p.(Lys171Thr) g.140562646A>C Copied from the Exome Variant Server PCDHB16_000024 2/12998 2/8594 0/4404 - - - - - - -
?/? c.529C>T r.(?) p.(His177Tyr) g.140562663C>T Copied from the Exome Variant Server PCDHB16_000025 1/13004 0/8600 1/4404 - - - - - - -
?/? c.546C>T r.(=) p.(=) g.140562680C>T Copied from the Exome Variant Server PCDHB16_000026 1/13006 0/8600 1/4406 - - - - - - -
?/? c.583G>A r.(?) p.(Val195Met) g.140562717G>A Copied from the Exome Variant Server PCDHB16_000027 1/13006 0/8600 1/4406 - - - - - - -
?/? c.597G>C r.(?) p.(Glu199Asp) g.140562731G>C Copied from the Exome Variant Server PCDHB16_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.605G>A r.(?) p.(Arg202Gln) g.140562739G>A Copied from the Exome Variant Server PCDHB16_000029 621/13006 557/8600 64/4406 - - - - - - -
?/? c.622C>G r.(?) p.(Leu208Val) g.140562756C>G Copied from the Exome Variant Server PCDHB16_000030 154/13006 0/8600 154/4406 - - - - - - -
?/? c.641C>T r.(?) p.(Ala214Val) g.140562775C>T Copied from the Exome Variant Server PCDHB16_000031 38/13006 36/8600 2/4406 - - - - - - -
?/? c.694_696del r.(?) p.(Val233del) g.140562828_140562830del Copied from the Exome Variant Server PCDHB16_000032 5/12512 0/8250 5/4262 - - - - - - -
?/? c.707A>G r.(?) p.(Asn236Ser) g.140562841A>G Copied from the Exome Variant Server PCDHB16_000033 1/13006 0/8600 1/4406 - - - - - - -
?/? c.709G>A r.(?) p.(Asp237Asn) g.140562843G>A Copied from the Exome Variant Server PCDHB16_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.752T>C r.(?) p.(Ile251Thr) g.140562886T>C Copied from the Exome Variant Server PCDHB16_000035 3/13006 0/8600 3/4406 - - - - - - -
?/? c.781G>A r.(?) p.(Val261Ile) g.140562915G>A Copied from the Exome Variant Server PCDHB16_000036 1/13006 1/8600 0/4406 - - - - - - -
?/? c.798C>T r.(=) p.(=) g.140562932C>T Copied from the Exome Variant Server PCDHB16_000037 1/13006 0/8600 1/4406 - - - - - - -
?/? c.837C>A r.(?) p.(Tyr279*) g.140562971C>A Copied from the Exome Variant Server PCDHB16_000038 4/13006 0/8600 4/4406 - - - - - - -
?/? c.851C>A r.(?) p.(Pro284His) g.140562985C>A Copied from the Exome Variant Server PCDHB16_000039 2/13006 0/8600 2/4406 - - - - - - -
?/? c.873T>C r.(=) p.(=) g.140563007T>C Copied from the Exome Variant Server PCDHB16_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.938C>G r.(?) p.(Thr313Arg) g.140563072C>G Copied from the Exome Variant Server PCDHB16_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.953G>A r.(?) p.(Arg318His) g.140563087G>A Copied from the Exome Variant Server PCDHB16_000042 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1000_1002del r.(?) p.(Leu335del) g.140563134_140563136del Copied from the Exome Variant Server PCDHB16_000043 46/12518 1/8254 45/4264 - - - - - - -
?/? c.1018G>T r.(?) p.(Val340Leu) g.140563152G>T Copied from the Exome Variant Server PCDHB16_000044 7/13006 0/8600 7/4406 - - - - - - -
?/? c.1024G>C r.(?) p.(Asp342His) g.140563158G>C Copied from the Exome Variant Server PCDHB16_000045 89/13006 81/8600 8/4406 - - - - - - -
?/? c.1030C>T r.(?) p.(Pro344Ser) g.140563164C>T Copied from the Exome Variant Server PCDHB16_000046 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1039G>T r.(?) p.(Val347Leu) g.140563173G>T Copied from the Exome Variant Server PCDHB16_000047 2516/13006 1474/8600 1042/4406 - - - - - - -
?/? c.1081C>G r.(?) p.(Pro361Ala) g.140563215C>G Copied from the Exome Variant Server PCDHB16_000048 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1083T>A r.(=) p.(=) g.140563217T>A Copied from the Exome Variant Server PCDHB16_000049 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1088T>C r.(?) p.(Ile363Thr) g.140563222T>C Copied from the Exome Variant Server PCDHB16_000050 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1123T>A r.(?) p.(Ser375Thr) g.140563257T>A Copied from the Exome Variant Server PCDHB16_000051 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1133A>G r.(?) p.(Asn378Ser) g.140563267A>G Copied from the Exome Variant Server PCDHB16_000052 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1146T>G r.(?) p.(Ile382Met) g.140563280T>G Copied from the Exome Variant Server PCDHB16_000054 4/13006 4/8600 0/4406 - - - - - - -
?/? c.1169C>T r.(?) p.(Pro390Leu) g.140563303C>T Copied from the Exome Variant Server PCDHB16_000056 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1189G>A r.(?) p.(Val397Ile) g.140563323G>A Copied from the Exome Variant Server PCDHB16_000058 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1192A>G r.(?) p.(Lys398Glu) g.140563326A>G Copied from the Exome Variant Server PCDHB16_000060 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1201T>C r.(?) p.(Tyr401His) g.140563335T>C Copied from the Exome Variant Server PCDHB16_000062 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1206C>G r.(=) p.(=) g.140563340C>G Copied from the Exome Variant Server PCDHB16_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1214C>A r.(?) p.(Thr405Lys) g.140563348C>A Copied from the Exome Variant Server PCDHB16_000055 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1238C>A r.(?) p.(Ala413Glu) g.140563372C>A Copied from the Exome Variant Server PCDHB16_000057 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1241G>A r.(?) p.(Arg414Lys) g.140563375G>A Copied from the Exome Variant Server PCDHB16_000059 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1243G>C r.(?) p.(Ala415Pro) g.140563377G>C Copied from the Exome Variant Server PCDHB16_000061 23/13006 23/8600 0/4406 - - - - - - -
?/? c.1244del r.(?) p.(Ala415Valfs*17) g.140563378del Copied from the Exome Variant Server PCDHB16_000063 1/12512 1/8250 0/4262 - - - - - - -
?/? c.1251T>C r.(=) p.(=) g.140563385T>C Copied from the Exome Variant Server PCDHB16_000064 63/13006 55/8600 8/4406 - - - - - - -
?/? c.1252A>G r.(?) p.(Asn418Asp) g.140563386A>G Copied from the Exome Variant Server PCDHB16_000065 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1309A>G r.(?) p.(Ile437Val) g.140563443A>G Copied from the Exome Variant Server PCDHB16_000066 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1320G>C r.(?) p.(Gln440His) g.140563454G>C Copied from the Exome Variant Server PCDHB16_000067 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1321A>G r.(?) p.(Ile441Val) g.140563455A>G Copied from the Exome Variant Server PCDHB16_000068 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1375T>G r.(?) p.(Phe459Val) g.140563509T>G Copied from the Exome Variant Server PCDHB16_000069 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1399G>A r.(?) p.(Ala467Thr) g.140563533G>A Copied from the Exome Variant Server PCDHB16_000070 2/13000 1/8594 1/4406 - - - - - - -
?/? c.1407C>T r.(=) p.(=) g.140563541C>T Copied from the Exome Variant Server PCDHB16_000071 1/13000 0/8594 1/4406 - - - - - - -
?/? c.1411G>C r.(?) p.(Gly471Arg) g.140563545G>C Copied from the Exome Variant Server PCDHB16_000072 2/12998 2/8592 0/4406 - - - - - - -
?/? c.1415G>A r.(?) p.(Ser472Asn) g.140563549G>A Copied from the Exome Variant Server PCDHB16_000073 1/12998 1/8592 0/4406 - - - - - - -
?/? c.1416C>T r.(=) p.(=) g.140563550C>T Copied from the Exome Variant Server PCDHB16_000074 153/12998 1/8592 152/4406 - - - - - - -
?/? c.1435G>A r.(?) p.(Asp479Asn) g.140563569G>A Copied from the Exome Variant Server PCDHB16_000075 1/12966 1/8560 0/4406 - - - - - - -
?/? c.1452C>T r.(=) p.(=) g.140563586C>T Copied from the Exome Variant Server PCDHB16_000076 901/12960 122/8554 779/4406 - - - - - - -
?/? c.1458C>T r.(=) p.(=) g.140563592C>T Copied from the Exome Variant Server PCDHB16_000077 19/12960 19/8554 0/4406 - - - - - - -
?/? c.1488G>A r.(=) p.(=) g.140563622G>A Copied from the Exome Variant Server PCDHB16_000078 4/12776 4/8422 0/4354 - - - - - - -
?/? c.1509G>A r.(=) p.(=) g.140563643G>A Copied from the Exome Variant Server PCDHB16_000079 3/12706 3/8400 0/4306 - - - - - - -
?/? c.1547T>C r.(?) p.(Leu516Pro) g.140563681T>C Copied from the Exome Variant Server PCDHB16_000080 1/12446 1/8226 0/4220 - - - - - - -
?/? c.1560C>T r.(=) p.(=) g.140563694C>T Copied from the Exome Variant Server PCDHB16_000081 1/12186 1/8060 0/4126 - - - - - - -
?/? c.1620T>G r.(=) p.(=) g.140563754T>G Copied from the Exome Variant Server PCDHB16_000082 1120/10220 664/6598 456/3622 - - - - - - -
?/? c.1689C>T r.(=) p.(=) g.140563823C>T Copied from the Exome Variant Server PCDHB16_000083 119/11544 2/7674 117/3870 - - - - - - -
?/? c.1701C>T r.(=) p.(=) g.140563835C>T Copied from the Exome Variant Server PCDHB16_000084 2/11738 0/7806 2/3932 - - - - - - -
?/? c.1707C>T r.(=) p.(=) g.140563841C>T Copied from the Exome Variant Server PCDHB16_000085 1/11818 1/7864 0/3954 - - - - - - -
?/? c.1731C>A r.(=) p.(=) g.140563865C>A Copied from the Exome Variant Server PCDHB16_000086 1/11722 1/7812 0/3910 - - - - - - -
?/? c.1787C>T r.(?) p.(Ser596Leu) g.140563921C>T Copied from the Exome Variant Server PCDHB16_000087 145/11736 0/7672 145/4064 - - - - - - -
?/? c.1809G>A r.(=) p.(=) g.140563943G>A Copied from the Exome Variant Server PCDHB16_000088 3/11778 0/7690 3/4088 - - - - - - -
?/? c.1831G>A r.(?) p.(Glu611Lys) g.140563965G>A Copied from the Exome Variant Server PCDHB16_000089 1/11416 1/7542 0/3874 - - - - - - -
?/? c.1873C>G r.(?) p.(Arg625Gly) g.140564007C>G Copied from the Exome Variant Server PCDHB16_000090 1/12052 0/7978 1/4074 - - - - - - -
?/? c.1879G>A r.(?) p.(Ala627Thr) g.140564013G>A Copied from the Exome Variant Server PCDHB16_000091 1/12146 1/8050 0/4096 - - - - - - -
?/? c.1884G>A r.(=) p.(=) g.140564018G>A Copied from the Exome Variant Server PCDHB16_000092 3/12142 2/8046 1/4096 - - - - - - -
?/? c.1900G>A r.(?) p.(Asp634Asn) g.140564034G>A Copied from the Exome Variant Server PCDHB16_000093 1/12206 1/8068 0/4138 - - - - - - -
?/? c.1921G>A r.(?) p.(Val641Met) g.140564055G>A Copied from the Exome Variant Server PCDHB16_000094 1/12006 0/7982 1/4024 - - - - - - -
?/? c.1939A>C r.(?) p.(Asn647His) g.140564073A>C Copied from the Exome Variant Server PCDHB16_000095 24/12296 0/8188 24/4108 - - - - - - -
?/? c.1953G>T r.(=) p.(=) g.140564087G>T Copied from the Exome Variant Server PCDHB16_000096 2/12496 1/8290 1/4206 - - - - - - -
?/? c.1977C>A r.(?) p.(His659Gln) g.140564111C>A Copied from the Exome Variant Server PCDHB16_000097 57/12926 0/8550 57/4376 - - - - - - -
?/? c.2020C>G r.(?) p.(Pro674Ala) g.140564154C>G Copied from the Exome Variant Server PCDHB16_000098 2/12976 0/8582 2/4394 - - - - - - -
?/? c.2034C>T r.(=) p.(=) g.140564168C>T Copied from the Exome Variant Server PCDHB16_000099 1/12956 0/8568 1/4388 - - - - - - -
?/? c.2080T>C r.(=) p.(=) g.140564214T>C Copied from the Exome Variant Server PCDHB16_000100 1948/13004 1450/8598 498/4406 - - - - - - -
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