Full data view for gene PCDHB2

Information The variants shown are described using the NM_018936.2 transcript reference sequence.

101 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.4G>C r.(?) p.(Glu2Gln) g.140474378G>C Copied from the Exome Variant Server PCDHB2_000003 1/13006 1/8600 0/4406 - - - - - - -
?/? c.13G>A r.(?) p.(Glu5Lys) g.140474387G>A Copied from the Exome Variant Server PCDHB2_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.26G>A r.(?) p.(Arg9His) g.140474400G>A Copied from the Exome Variant Server PCDHB2_000008 1/13006 1/8600 0/4406 - - - - - - -
?/? c.38A>G r.(?) p.(Gln13Arg) g.140474412A>G Copied from the Exome Variant Server PCDHB2_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.47T>A r.(?) p.(Val16Asp) g.140474421T>A Copied from the Exome Variant Server PCDHB2_000012 1/13006 0/8600 1/4406 - - - - - - -
?/? c.93G>T r.(?) p.(Gln31His) g.140474467G>T Copied from the Exome Variant Server PCDHB2_000014 8/13006 0/8600 8/4406 - - - - - - -
?/? c.114C>T r.(=) p.(=) g.140474488C>T Copied from the Exome Variant Server PCDHB2_000016 3/13006 0/8600 3/4406 - - - - - - -
?/? c.174A>G r.(?) p.(Ile58Met) g.140474548A>G Copied from the Exome Variant Server PCDHB2_000018 66/13006 2/8600 64/4406 - - - - - - -
?/? c.216del r.(?) p.(Met75Cysfs*14) g.140474590del Copied from the Exome Variant Server PCDHB2_000020 3/12518 1/8254 2/4264 - - - - - - -
?/? c.240T>C r.(=) p.(=) g.140474614T>C Copied from the Exome Variant Server PCDHB2_000001 12/13006 12/8600 0/4406 - - - - - - -
?/? c.308C>T r.(?) p.(Pro103Leu) g.140474682C>T Copied from the Exome Variant Server PCDHB2_000002 1/13006 0/8600 1/4406 - - - - - - -
?/? c.334C>G r.(?) p.(Leu112Val) g.140474708C>G Copied from the Exome Variant Server PCDHB2_000004 2/13006 2/8600 0/4406 - - - - - - -
?/? c.338A>G r.(?) p.(Glu113Gly) g.140474712A>G Copied from the Exome Variant Server PCDHB2_000006 1/13006 0/8600 1/4406 - - - - - - -
?/? c.349C>G r.(?) p.(Gln117Glu) g.140474723C>G Copied from the Exome Variant Server PCDHB2_000007 1/13004 1/8600 0/4404 - - - - - - -
?/? c.361G>A r.(?) p.(Ala121Thr) g.140474735G>A Copied from the Exome Variant Server PCDHB2_000009 4/13004 0/8600 4/4404 - - - - - - -
?/? c.381C>T r.(=) p.(=) g.140474755C>T Copied from the Exome Variant Server PCDHB2_000011 1/13002 1/8600 0/4402 - - - - - - -
?/? c.382G>A r.(?) p.(Val128Ile) g.140474756G>A Copied from the Exome Variant Server PCDHB2_000013 1237/13004 652/8600 585/4404 - - - - - - -
?/? c.400G>C r.(?) p.(Val134Leu) g.140474774G>C Copied from the Exome Variant Server PCDHB2_000015 1/13004 1/8600 0/4404 - - - - - - -
?/? c.422T>G r.(?) p.(Leu141Arg) g.140474796T>G Copied from the Exome Variant Server PCDHB2_000017 15/12998 0/8598 15/4400 - - - - - - -
?/? c.425T>C r.(?) p.(Leu142Ser) g.140474799T>C Copied from the Exome Variant Server PCDHB2_000019 2/12996 0/8600 2/4396 - - - - - - -
?/? c.447del r.(?) p.(Pro150Leufs*6) g.140474821del Copied from the Exome Variant Server PCDHB2_000021 1/12486 1/8248 0/4238 - - - - - - -
?/? c.463T>A r.(?) p.(Leu155Ile) g.140474837T>A Copied from the Exome Variant Server PCDHB2_000022 1/12988 0/8596 1/4392 - - - - - - -
?/? c.476C>A r.(?) p.(Ala159Asp) g.140474850C>A Copied from the Exome Variant Server PCDHB2_000023 1/13002 1/8598 0/4404 - - - - - - -
?/? c.503G>A r.(?) p.(Ser168Asn) g.140474877G>A Copied from the Exome Variant Server PCDHB2_000024 1/13006 1/8600 0/4406 - - - - - - -
?/? c.515A>G r.(?) p.(Tyr172Cys) g.140474889A>G Copied from the Exome Variant Server PCDHB2_000025 1/13006 0/8600 1/4406 - - - - - - -
?/? c.528C>A r.(=) p.(=) g.140474902C>A Copied from the Exome Variant Server PCDHB2_000026 1/13006 1/8600 0/4406 - - - - - - -
?/? c.567_568insG r.(?) p.(Ile191Hisfs*19) g.140474941_140474942insG Copied from the Exome Variant Server PCDHB2_000027 1/12518 0/8254 1/4264 - - - - - - -
?/? c.601G>C r.(?) p.(Ala201Pro) g.140474975G>C Copied from the Exome Variant Server PCDHB2_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.658del r.(?) p.(Ser221Valfs*51) g.140475032del Copied from the Exome Variant Server PCDHB2_000029 1/12518 1/8254 0/4264 - - - - - - -
?/? c.670A>T r.(?) p.(Arg224Trp) g.140475044A>T Copied from the Exome Variant Server PCDHB2_000030 1/13006 0/8600 1/4406 - - - - - - -
?/? c.734C>G r.(?) p.(Ala245Gly) g.140475108C>G Copied from the Exome Variant Server PCDHB2_000031 14/13006 14/8600 0/4406 - - - - - - -
?/? c.738G>A r.(=) p.(=) g.140475112G>A Copied from the Exome Variant Server PCDHB2_000032 13/13006 0/8600 13/4406 - - - - - - -
?/? c.788T>C r.(?) p.(Val263Ala) g.140475162T>C Copied from the Exome Variant Server PCDHB2_000033 2/13006 2/8600 0/4406 - - - - - - -
?/? c.808G>A r.(?) p.(Asp270Asn) g.140475182G>A Copied from the Exome Variant Server PCDHB2_000034 2/13006 0/8600 2/4406 - - - - - - -
?/? c.821G>C r.(?) p.(Gly274Ala) g.140475195G>C Copied from the Exome Variant Server PCDHB2_000035 1/13006 0/8600 1/4406 - - - - - - -
?/? c.826A>G r.(?) p.(Asn276Asp) g.140475200A>G Copied from the Exome Variant Server PCDHB2_000036 1/13006 0/8600 1/4406 - - - - - - -
?/? c.838T>C r.(?) p.(Ser280Pro) g.140475212T>C Copied from the Exome Variant Server PCDHB2_000037 19/13006 0/8600 19/4406 - - - - - - -
?/? c.917G>T r.(?) p.(Arg306Ile) g.140475291G>T Copied from the Exome Variant Server PCDHB2_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.969G>C r.(=) p.(=) g.140475343G>C Copied from the Exome Variant Server PCDHB2_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.975_977del r.(?) p.(Gly328del) g.140475349_140475351del Copied from the Exome Variant Server PCDHB2_000040 1/12518 0/8254 1/4264 - - - - - - -
?/? c.1003G>C r.(?) p.(Val335Leu) g.140475377G>C Copied from the Exome Variant Server PCDHB2_000041 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1043_1046del r.(?) p.(Thr350Cysfs*45) g.140475417_140475420del Copied from the Exome Variant Server PCDHB2_000042 5/12518 4/8254 1/4264 - - - - - - -
?/? c.1044A>G r.(=) p.(=) g.140475418A>G Copied from the Exome Variant Server PCDHB2_000043 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1064T>C r.(?) p.(Ile355Thr) g.140475438T>C Copied from the Exome Variant Server PCDHB2_000044 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1067A>G r.(?) p.(Asn356Ser) g.140475441A>G Copied from the Exome Variant Server PCDHB2_000045 12/13006 11/8600 1/4406 - - - - - - -
?/? c.1094C>T r.(?) p.(Thr365Ile) g.140475468C>T Copied from the Exome Variant Server PCDHB2_000046 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1129T>C r.(?) p.(Ser377Pro) g.140475503T>C Copied from the Exome Variant Server PCDHB2_000047 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1140C>A r.(?) p.(Asn380Lys) g.140475514C>A Copied from the Exome Variant Server PCDHB2_000048 116/13006 0/8600 116/4406 - - - - - - -
?/? c.1160T>C r.(?) p.(Ile387Thr) g.140475534T>C Copied from the Exome Variant Server PCDHB2_000049 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1189C>A r.(?) p.(Pro397Thr) g.140475563C>A Copied from the Exome Variant Server PCDHB2_000050 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1190_1192del r.(?) p.(Ser398del) g.140475564_140475566del Copied from the Exome Variant Server PCDHB2_000051 39/12518 23/8254 16/4264 - - - - - - -
?/? c.1259_1260insCATCAC r.(?) p.(Ile423_Thr424dup) g.140475633_140475634insCATCAC Copied from the Exome Variant Server PCDHB2_000052 288/12518 264/8254 24/4264 - - - - - - -
?/? c.1291C>A r.(?) p.(Pro431Thr) g.140475665C>A Copied from the Exome Variant Server PCDHB2_000053 50/13006 48/8600 2/4406 - - - - - - -
?/? c.1320C>A r.(=) p.(=) g.140475694C>A Copied from the Exome Variant Server PCDHB2_000054 339/13006 0/8600 339/4406 - - - - - - -
?/? c.1322T>A r.(?) p.(Val441Glu) g.140475696T>A Copied from the Exome Variant Server PCDHB2_000056 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1367C>T r.(?) p.(Thr456Ile) g.140475741C>T Copied from the Exome Variant Server PCDHB2_000058 1/13000 1/8594 0/4406 - - - - - - -
?/? c.1373A>G r.(?) p.(Tyr458Cys) g.140475747A>G Copied from the Exome Variant Server PCDHB2_000060 2/13000 2/8594 0/4406 - - - - - - -
?/? c.1383C>G r.(?) p.(Phe461Leu) g.140475757C>G Copied from the Exome Variant Server PCDHB2_000061 2/12998 0/8592 2/4406 - - - - - - -
?/? c.1384G>C r.(?) p.(Val462Leu) g.140475758G>C Copied from the Exome Variant Server PCDHB2_000063 1/12998 1/8592 0/4406 - - - - - - -
?/? c.1393_1395del r.(?) p.(Asn466del) g.140475767_140475769del Copied from the Exome Variant Server PCDHB2_000055 12/12486 9/8224 3/4262 - - - - - - -
?/? c.1438A>G r.(?) p.(Arg480Gly) g.140475812A>G Copied from the Exome Variant Server PCDHB2_000057 6/12948 0/8546 6/4402 - - - - - - -
?/? c.1448G>A r.(?) p.(Gly483Asp) g.140475822G>A Copied from the Exome Variant Server PCDHB2_000059 1/12954 1/8552 0/4402 - - - - - - -
?/? c.1478T>C r.(?) p.(Leu493Pro) g.140475852T>C Copied from the Exome Variant Server PCDHB2_000062 225/12990 59/8584 166/4406 - - - - - - -
?/? c.1493C>T r.(?) p.(Pro498Leu) g.140475867C>T Copied from the Exome Variant Server PCDHB2_000064 1/12994 0/8590 1/4404 - - - - - - -
?/? c.1531G>C r.(?) p.(Asp511His) g.140475905G>C Copied from the Exome Variant Server PCDHB2_000065 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1535A>G r.(?) p.(Asn512Ser) g.140475909A>G Copied from the Exome Variant Server PCDHB2_000066 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1548C>A r.(?) p.(Phe516Leu) g.140475922C>A Copied from the Exome Variant Server PCDHB2_000067 38/13006 37/8600 1/4406 - - - - - - -
?/? c.1584G>A r.(=) p.(=) g.140475958G>A Copied from the Exome Variant Server PCDHB2_000068 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1590G>T r.(?) p.(Glu530Asp) g.140475964G>T Copied from the Exome Variant Server PCDHB2_000069 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1606G>A r.(?) p.(Ala536Thr) g.140475980G>A Copied from the Exome Variant Server PCDHB2_000070 2447/13006 1885/8600 562/4406 - - - - - - -
?/? c.1635C>G r.(?) p.(Ser545Arg) g.140476009C>G Copied from the Exome Variant Server PCDHB2_000071 2/12992 0/8592 2/4400 - - - - - - -
?/? c.1686C>T r.(=) p.(=) g.140476060C>T Copied from the Exome Variant Server PCDHB2_000073 715/12738 626/8404 89/4334 - - - - - - -
?/? c.1778C>T r.(?) p.(Ala593Val) g.140476152C>T Copied from the Exome Variant Server PCDHB2_000075 2/10482 2/7032 0/3450 - - - - - - -
?/? c.1843G>A r.(?) p.(Gly615Arg) g.140476217G>A Copied from the Exome Variant Server PCDHB2_000077 1/12130 1/8042 0/4088 - - - - - - -
?/? c.1856T>C r.(?) p.(Val619Ala) g.140476230T>C Copied from the Exome Variant Server PCDHB2_000079 31/12484 1/8274 30/4210 - - - - - - -
?/? c.1872C>G r.(=) p.(=) g.140476246C>G Copied from the Exome Variant Server PCDHB2_000081 2/12728 1/8410 1/4318 - - - - - - -
?/? c.1875G>A r.(=) p.(=) g.140476249G>A Copied from the Exome Variant Server PCDHB2_000083 3/12780 3/8446 0/4334 - - - - - - -
?/? c.1887C>T r.(=) p.(=) g.140476261C>T Copied from the Exome Variant Server PCDHB2_000085 1/12814 1/8474 0/4340 - - - - - - -
?/? c.1909G>A r.(?) p.(Ala637Thr) g.140476283G>A Copied from the Exome Variant Server PCDHB2_000087 55/12898 49/8526 6/4372 - - - - - - -
?/? c.1911T>A r.(=) p.(=) g.140476285T>A Copied from the Exome Variant Server PCDHB2_000089 17/12900 0/8528 17/4372 - - - - - - -
?/? c.1920G>C r.(?) p.(Gln640His) g.140476294G>C Copied from the Exome Variant Server PCDHB2_000091 10/12858 7/8510 3/4348 - - - - - - -
?/? c.1930G>A r.(?) p.(Val644Met) g.140476304G>A Copied from the Exome Variant Server PCDHB2_000093 1/12790 1/8468 0/4322 - - - - - - -
?/? c.2041G>A r.(?) p.(Ala681Thr) g.140476415G>A Copied from the Exome Variant Server PCDHB2_000095 1/12808 0/8456 1/4352 - - - - - - -
?/? c.2056G>T r.(?) p.(Asp686Tyr) g.140476430G>T Copied from the Exome Variant Server PCDHB2_000097 19/12668 17/8384 2/4284 - - - - - - -
?/? c.2085G>A r.(=) p.(=) g.140476459G>A Copied from the Exome Variant Server PCDHB2_000072 4/12650 4/8360 0/4290 - - - - - - -
?/? c.2136G>C r.(=) p.(=) g.140476510G>C Copied from the Exome Variant Server PCDHB2_000074 50/12184 43/8020 7/4164 - - - - - - -
?/? c.2229C>T r.(=) p.(=) g.140476603C>T Copied from the Exome Variant Server PCDHB2_000076 2/12692 2/8440 0/4252 - - - - - - -
?/? c.2241G>A r.(=) p.(=) g.140476615G>A Copied from the Exome Variant Server PCDHB2_000078 4/12648 3/8436 1/4212 - - - - - - -
?/? c.2259C>G r.(?) p.(Tyr753*) g.140476633C>G Copied from the Exome Variant Server PCDHB2_000080 1/12784 1/8502 0/4282 - - - - - - -
?/? c.2279G>A r.(?) p.(Gly760Asp) g.140476653G>A Copied from the Exome Variant Server PCDHB2_000082 2380/12938 1506/8550 874/4388 - - - - - - -
?/? c.2280C>A r.(=) p.(=) g.140476654C>A Copied from the Exome Variant Server PCDHB2_000084 2381/12938 1508/8548 873/4390 - - - - - - -
?/? c.2311C>T r.(?) p.(Pro771Ser) g.140476685C>T Copied from the Exome Variant Server PCDHB2_000086 2/12964 2/8560 0/4404 - - - - - - -
?/? c.2314A>G r.(?) p.(Ile772Val) g.140476688A>G Copied from the Exome Variant Server PCDHB2_000088 1/12962 1/8558 0/4404 - - - - - - -
?/? c.2324A>G r.(?) p.(Asn775Ser) g.140476698A>G Copied from the Exome Variant Server PCDHB2_000090 7/13000 5/8594 2/4406 - - - - - - -
?/? c.2339G>A r.(?) p.(Gly780Asp) g.140476713G>A Copied from the Exome Variant Server PCDHB2_000092 1/12998 1/8594 0/4404 - - - - - - -
?/? c.2354G>A r.(?) p.(Ser785Asn) g.140476728G>A Copied from the Exome Variant Server PCDHB2_000094 1/13004 0/8600 1/4404 - - - - - - -
?/? c.2359G>A r.(?) p.(Ala787Thr) g.140476733G>A Copied from the Exome Variant Server PCDHB2_000096 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2392A>C r.(?) p.(Thr798Pro) g.140476766A>C Copied from the Exome Variant Server PCDHB2_000098 1/13006 0/8600 1/4406 - - - - - - -
?/? c.*11G>T r.(=) p.(=) g.140476782G>T Copied from the Exome Variant Server PCDHB2_000099 149/13006 1/8600 148/4406 - - - - - - -
?/? c.*31C>G r.(=) p.(=) g.140476802C>G Copied from the Exome Variant Server PCDHB2_000100 1/13004 1/8600 0/4404 - - - - - - -
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