GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PC V145Ainsufficiently evaluated pathogenicunknown

(30 web hits)

PC R156Qinsufficiently evaluated pathogenicunknown

(9 web hits)

PC V206Linsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
PC R451Cinsufficiently evaluated pathogenicunknown

(53300 web hits)

PC V528Iinsufficiently evaluated not reviewed, f=0.008unknown var-GS20509-1100-36-ASM
PC R583Linsufficiently evaluated pathogenicunknown
PC A610Tinsufficiently evaluated pathogenicunknown

(41 web hits)

PC R732Ginsufficiently evaluated not reviewedunknown

(16 web hits)

PC M743Iinsufficiently evaluated pathogenicunknown

(17 web hits)

PC V1131Minsufficiently evaluated not reviewed, f=0.001unknown var-GS19238-1100-36-ASM
PCBD1 T78Iinsufficiently evaluated pathogenicunknown

(1 web hit)

PCBD1 C82Rinsufficiently evaluated pathogenicunknown

(1 web hit)

PCBD1 E86Xinsufficiently evaluated pathogenicunknown

(1 web hit)

PCBD1 E87Xinsufficiently evaluated pathogenicunknown

(1 web hit)

PCBD1 Q97Xinsufficiently evaluated pathogenicunknown

(1 web hit)

PCBP1 N84Sinsufficiently evaluated not reviewed, f=0.001unknown var-GS19670-1100-36-ASM
PCBP2 Q198Rinsufficiently evaluated not reviewedunknown
PCBP2 Q202Rinsufficiently evaluated not reviewedunknown
PCBP2 Q229Rinsufficiently evaluated not reviewedunknown
PCBP2 Q233Rinsufficiently evaluated not reviewedunknown
PCBP3 N43Kinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
PCBP3 R144Qinsufficiently evaluated not reviewed, f=0.008unknown
PCBP3 R176Qinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_D01_200_37
PCBP4 G164Sinsufficiently evaluated noneunknown
PCBP4 V167Iinsufficiently evaluated noneunknown
PCBP4 G198Sinsufficiently evaluated none, f=0.048unknown var-GS18504-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18517-1100-36-ASM
PCBP4 V201Iinsufficiently evaluated none, f=0.008unknown var-GS18555-1100-36-ASM
PCBP4 G219Sinsufficiently evaluated noneunknown
PCBP4 V222Iinsufficiently evaluated noneunknown
PCCA G15Shiftinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_B02_200_37
PCCA A284Vinsufficiently evaluated not reviewedunknown
PCCA R288Xinsufficiently evaluated pathogenicunknown

(5 web hits)

PCCA A310Vinsufficiently evaluated not reviewedunknown
PCCA M348Kinsufficiently evaluated pathogenicunknown

(9 web hits)

PCCA C398Sinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B07 from PGP sample 61499538
PCCA I449Vinsufficiently evaluated not reviewedunknown

(1 web hit)

PCCA I475Vuncertain benign, f=0.038unknown

Reported as a polymorphism, tentatively presumed benign.

(1 web hit)

CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS000006909
CGI sample GS00253-DNA_F01_200_37
PCCA S494Cinsufficiently evaluated not reviewedunknown
PCCA S520Cinsufficiently evaluated not reviewed, f=0.001unknown
PCCA W533Linsufficiently evaluated noneunknown
PCCA V551Finsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_F02 from PGP sample 95788191
PCCA S556Linsufficiently evaluated not reviewedunknown
PCCA W559Linsufficiently evaluated none, f=0.008unknown

(1 web hit)

var-GS18526-1100-36-ASM
PCCA S582Linsufficiently evaluated not reviewed, f=0.018unknown var-GS18501-1100-36-ASM
PCCB E168Kinsufficiently evaluated pathogenicunknown

(47 web hits)

PCCB C291Yinsufficiently evaluated none, f=0.002unknown CGI sample GS00253-DNA_A01_200_37
PCCB T304Iinsufficiently evaluated not reviewed, f=0.001unknown CGI sample GS00253-DNA_C01_200_37
PCCB C311Yinsufficiently evaluated not reviewedunknown
PCCB T324Iinsufficiently evaluated not reviewedunknown
PCCB G407Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
PCCB I409Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
PCCB H411Ninsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
PCCB R412Winsufficiently evaluated pathogenicunknown
PCCB T428Iinsufficiently evaluated pathogenicunknown

(27 web hits)

PCCB Y435Cinsufficiently evaluated pathogenic, f=0.000unknown

(14 web hits)

PCCB C517Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS18508-1100-36-ASM
PCCB D518Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS18508-1100-36-ASM
PCDH1 L15Finsufficiently evaluated none, f=0.007unknown CGI sample GS00253-DNA_B01_200_37
PCDH1 H25Pinsufficiently evaluated none, f=0.303unknown var-GS19025-1100-36-ASM
hu3215A7 build 36 substitution variants
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM (hom)
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS00253-DNA_B01_200_37
CGI sample GS00253-DNA_F01_200_37
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
PCDH1 A514Tinsufficiently evaluated unknown, f=0.053unknown hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS19834-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS19670-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
PCDH1 A712Tinsufficiently evaluated not reviewed, f=0.009unknown CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS20509-1100-36-ASM
PCDH1 G903Sinsufficiently evaluated none, f=0.009unknown var-GS19025-1100-36-ASM (hom)
var-GS18517-1100-36-ASM
PCDH1 T1117Iinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
PCDH1 A1167Vinsufficiently evaluated not reviewed, f=0.000unknown var-GS19017-1100-36-ASM
PCDH10 I45Minsufficiently evaluated noneunknown
PCDH10 A496Dinsufficiently evaluated not reviewed, f=0.008unknown var-GS19239-1100-36-ASM
PCDH11X T420Ninsufficiently evaluated noneunknown
PCDH11X V471Iinsufficiently evaluated not reviewed, f=0.011unknown var-GS21767-1100-36-ASM
PCDH11X T486Minsufficiently evaluated noneunknown
PCDH11X M491Tinsufficiently evaluated noneunknown

(1 web hit)

PCDH11X K500Einsufficiently evaluated noneunknown
PCDH11X C517Rinsufficiently evaluated noneunknown
PCDH11X N576Kinsufficiently evaluated noneunknown
PCDH11X S678Yinsufficiently evaluated noneunknown
PCDH11X C680Yinsufficiently evaluated noneunknown
PCDH11X T790Iinsufficiently evaluated noneunknown
PCDH11X K849Minsufficiently evaluated noneunknown
PCDH11X F885Vinsufficiently evaluated noneunknown

(21 web hits)

PCDH11X S958Linsufficiently evaluated noneunknown
PCDH11X K980Ninsufficiently evaluated noneunknown

(20 web hits)

PCDH11X R1018Qinsufficiently evaluated none, f=0.006unknown

(3 web hits)

PCDH11X G1047Einsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_A07 from PGP sample 96240009
PCDH11X A1124Pinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
PCDH11X P1213Linsufficiently evaluated not reviewed, f=0.001unknown var-GS18537-1100-36-ASM
var-GS18526-1100-36-ASM
PCDH11X C1244Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_D02 from PGP sample 27316983
PCDH11Y M1Tinsufficiently evaluated noneunknown
PCDH11Y I41Vinsufficiently evaluated not reviewedunknown var-GS18940-1100-36-ASM (hom)
PCDH11Y V906Finsufficiently evaluated noneunknown
PCDH11Y V917Finsufficiently evaluated noneunknown CGI sample GS00253-DNA_E01_200_37 (hom)
var-GS19025-1100-36-ASM (hom)
var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_F01_200_37 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19670-1100-36-ASM (hom)
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS19026-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
PCDH11Y N1001Kinsufficiently evaluated noneunknown

(1 web hit)

PCDH11Y N1012Kinsufficiently evaluated noneunknown

(2 web hits)

CGI sample GS00253-DNA_E01_200_37 (hom)
var-GS19025-1100-36-ASM (hom)
var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_F01_200_37 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19670-1100-36-ASM (hom)
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS19026-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
PCDH11Y V1187Ainsufficiently evaluated noneunknown
PCDH11Y G1221Ainsufficiently evaluated noneunknown
PCDH11Y S1253Pinsufficiently evaluated noneunknown
PCDH11Y N1280Dinsufficiently evaluated noneunknown
PCDH11Y A1320Tinsufficiently evaluated noneunknown

(4 web hits)

PCDH12 D80Einsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
PCDH12 R151Qinsufficiently evaluated not reviewed, f=0.005unknown var-GS19025-1100-36-ASM
PCDH12 G187Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS19025-1100-36-ASM
PCDH12 H385Ninsufficiently evaluated none, f=0.635unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
var-GS07357-1100-36-ASM
CGI sample GS000005532
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_F01_200_37 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
PCDH12 V579Minsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
PCDH12 L608Pinsufficiently evaluated not reviewed, f=0.016unknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_A07 from PGP sample 96240009
PCDH12 S640Ninsufficiently evaluated none, f=0.223unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM
hu232307 build 36 substitution variants
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
var-GS18947-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19669-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
PCDH12 I667Tinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
PCDH12 R860Qinsufficiently evaluated not reviewed, f=0.001unknown var-GS10851-1100-36-ASM
PCDH12 P879Ainsufficiently evaluated none, f=0.004unknown var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
PCDH12 A899Vinsufficiently evaluated not reviewed, f=0.011unknown var-GS19700-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
PCDH12 H980Yinsufficiently evaluated not reviewed, f=0.008unknown var-GS19025-1100-36-ASM
PCDH12 E1023Ainsufficiently evaluated not reviewed, f=0.010unknown var-GS19701-1100-36-ASM
var-GS18505-1100-36-ASM
PCDH12 E1118Dinsufficiently evaluated not reviewed, f=0.002unknown var-GS19025-1100-36-ASM
PCDH12 R1175Sinsufficiently evaluated noneunknown

(3 web hits)

PCDH12 G1176Sinsufficiently evaluated noneunknown

(2 web hits)

PCDH12 S1181SSSSinsufficiently evaluated not reviewedunknown hu34D5B9 exome (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_B02 from PGP sample 94378523
PCDH15 R3Xinsufficiently evaluated pathogenicunknown

(17 web hits)

PCDH15 S19Ainsufficiently evaluated none, f=0.218unknown

(8 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18501-1100-36-ASM
var-GS18558-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19649-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
var-GS20502-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS06985-1100-36-ASM (hom)
PCDH15 R134Ginsufficiently evaluated pathogenicunknown

(24 web hits)

PCDH15 C231Rinsufficiently evaluated not reviewedunknown

(2 web hits)

PCDH15 R245Xinsufficiently evaluated pathogenicunknown

(149 web hits)

PCDH15 C246Rinsufficiently evaluated not reviewedunknown
PCDH15 G262Dinsufficiently evaluated pathogenicunknown

(23 web hits)

PCDH15 C268Rinsufficiently evaluated not reviewedunknown
PCDH15 C273Rinsufficiently evaluated not reviewedunknown
PCDH15 G343Sinsufficiently evaluated noneunknown
PCDH15 L352Finsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D03 from PGP sample 27486199
PCDH15 G358Sinsufficiently evaluated noneunknown
PCDH15 G380Sinsufficiently evaluated none, f=0.227unknown

(3 web hits)

var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19701-1100-36-ASM (hom)
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS20502-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18517-1100-36-ASM
PCDH15 G385Sinsufficiently evaluated none, f=0.235unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS01175-DNA_D03 from PGP sample 27486199
PCDH15 D398Ainsufficiently evaluated not reviewedunknown

(13 web hits)

hu728FFF build 36 substitution variants (hom)
PCDH15 D413Ainsufficiently evaluated not reviewedunknown

(3 web hits)

hu728FFF build 36 substitution variants (hom)
PCDH15 V417Iinsufficiently evaluated not reviewedunknown

(1 web hit)

PCDH15 V432Iinsufficiently evaluated not reviewedunknown

(1 web hit)

PCDH15 D435Ainsufficiently evaluated not reviewed, f=0.242unknown

(5 web hits)

var-GS19025-1100-36-ASM
hu3215A7 build 36 substitution variants (hom)
var-GS18942-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
var-GS07357-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
var-GS19129-1100-36-ASM
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
PCDH15 D440Ainsufficiently evaluated not reviewed, f=0.131unknown

(3 web hits)

CGI sample GS01175-DNA_H01 from PGP sample 94797469
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS000005532
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS00253-DNA_C01_200_37
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
hu728FFF build 36 substitution variants (hom)
PCDH15 V454Iinsufficiently evaluated not reviewedunknown
PCDH15 V459Iinsufficiently evaluated not reviewed, f=0.013unknown
PCDH15 V466Iinsufficiently evaluated not reviewedunknown

(2 web hits)

PCDH15 A568Tinsufficiently evaluated not reviewed, f=0.016unknown var-GS19701-1100-36-ASM
var-GS19017-1100-36-ASM
PCDH15 A573Tinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_B02_200_37
PCDH15 N600Sinsufficiently evaluated noneunknown
PCDH15 N615Sinsufficiently evaluated noneunknown
PCDH15 N637Suncertain benign, f=0.048unknown

Probably non-pathogenic. Found in a gene associated with Usher syndrome and predicted damaging by Polyphen 2, but 5% allele frequency in controls strongly contradicts any severe high penetrance effect.

(1 web hit)

var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS06985-1100-36-ASM
PCDH15 N642Sinsufficiently evaluated none, f=0.032unknown CGI sample GS01173-DNA_A07 from PGP sample 96240009
PCDH15 S647Xinsufficiently evaluated pathogenicunknown

(3 web hits)

PCDH15 N649Sinsufficiently evaluated noneunknown
PCDH15 I741Tinsufficiently evaluated not reviewedunknown
PCDH15 I775Tinsufficiently evaluated not reviewedunknown
PCDH15 I776Finsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
PCDH15 I790Tinsufficiently evaluated not reviewedunknown
PCDH15 I812Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS19026-1100-36-ASM
PCDH15 I817Tinsufficiently evaluated not reviewed, f=0.002unknown
PCDH15 I824Tinsufficiently evaluated not reviewedunknown
PCDH15 R858Qinsufficiently evaluated noneunknown
PCDH15 R892Qinsufficiently evaluated noneunknown
PCDH15 R907Qinsufficiently evaluated noneunknown
PCDH15 A910Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS19026-1100-36-ASM
PCDH15 R929Qinsufficiently evaluated none, f=0.188unknown

(2 web hits)

var-GS18942-1100-36-ASM
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS07357-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM (hom)
PCDH15 R934Qinsufficiently evaluated none, f=0.209unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01175-DNA_G03 from PGP sample 92527586
hu34D5B9 exome
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_A07 from PGP sample 96240009
PCDH15 R941Qinsufficiently evaluated noneunknown
PCDH15 R962Hinsufficiently evaluated not reviewed, f=0.008unknown var-GS19239-1100-36-ASM
PCDH15 R962Linsufficiently evaluated not reviewed, f=0.008unknown var-GS19648-1100-36-ASM
PCDH15 V1107Iinsufficiently evaluated not reviewedunknown
PCDH15 Y1110Xinsufficiently evaluated pathogenicrecessive

This is a nonsense mutation which eliminates the terminal ~40% of this protein. There are no reports regarding this variant. Other mutations in this gene are associated with causing Usher syndrome and deafness in a recessive manner, but all variants in OMIM occur on amino acids preceding this one (closest is 647). Based on the severity of a nonsense mutation and the associations of this gene with severe disease, we tentatively classify this as pathogenic and recessive.

PCDH15 A1128Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS19025-1100-36-ASM
PCDH15 V1141Iinsufficiently evaluated not reviewedunknown

(1 web hit)

PCDH15 Y1144Xinsufficiently evaluated pathogenicrecessive

This is a nonsense mutation which eliminates the terminal ~40% of this protein. There are no reports regarding this variant. Other mutations in this gene are associated with causing Usher syndrome and deafness in a recessive manner, but all variants in OMIM occur on amino acids preceding this one (closest is 647). Based on the severity of a nonsense mutation and the associations of this gene with severe disease, we tentatively classify this as pathogenic and recessive.

PCDH15 V1156Iinsufficiently evaluated not reviewedunknown

(1 web hit)

PCDH15 Y1159Xinsufficiently evaluated pathogenicrecessive

This is a nonsense mutation which eliminates the terminal ~40% of this protein. There are no reports regarding this variant. Other mutations in this gene are associated with causing Usher syndrome and deafness in a recessive manner, but all variants in OMIM occur on amino acids preceding this one (closest is 647). Based on the severity of a nonsense mutation and the associations of this gene with severe disease, we tentatively classify this as pathogenic and recessive.

PCDH15 V1178Iinsufficiently evaluated not reviewed, f=0.016unknown
PCDH15 Y1181Xinsufficiently evaluated pathogenicrecessive

This is a nonsense mutation which eliminates the terminal ~40% of this protein. There are no reports regarding this variant. Other mutations in this gene are associated with causing Usher syndrome and deafness in a recessive manner, but all variants in OMIM occur on amino acids preceding this one (closest is 647). Based on the severity of a nonsense mutation and the associations of this gene with severe disease, we tentatively classify this as pathogenic and recessive.

(1 web hit)

PCDH15 V1183Iinsufficiently evaluated not reviewed, f=0.010unknown CGI sample GS00253-DNA_B02_200_37
PCDH15 Y1186Xinsufficiently evaluated pathogenicrecessive

This is a nonsense mutation which eliminates the terminal ~40% of this protein. There are no reports regarding this variant. Other mutations in this gene are associated with causing Usher syndrome and deafness in a recessive manner, but all variants in OMIM occur on amino acids preceding this one (closest is 647). Based on the severity of a nonsense mutation and the associations of this gene with severe disease, we tentatively classify this as pathogenic and recessive.

PCDH15 V1190Iinsufficiently evaluated not reviewedunknown
PCDH15 Y1193Xinsufficiently evaluated noneunknown
PCDH15 E1194Dinsufficiently evaluated not reviewedunknown
PCDH15 E1228Dinsufficiently evaluated not reviewedunknown
PCDH15 E1243Dinsufficiently evaluated not reviewedunknown
PCDH15 E1265Dinsufficiently evaluated not reviewed, f=0.008unknown
PCDH15 E1270Dinsufficiently evaluated not reviewed, f=0.015unknown
PCDH15 Q1271Kinsufficiently evaluated noneunknown
PCDH15 E1277Dinsufficiently evaluated not reviewedunknown
PCDH15 Q1305Kinsufficiently evaluated noneunknown
PCDH15 Q1320Kinsufficiently evaluated noneunknown
PCDH15 Q1342Kinsufficiently evaluated pathogenic, f=0.008recessive

This variant was found as a compound heterozygote (together with T1867del) in a Caucasian individual with Usher syndrome type I.

(4 web hits)

var-GS19669-1100-36-ASM
PCDH15 Q1347Kinsufficiently evaluated none, f=0.008unknown
PCDH15 Q1354Kinsufficiently evaluated noneunknown
PCDH15 A1445Ginsufficiently evaluated not reviewed, f=0.009unknown var-GS19670-1100-36-ASM
PCDH15 A1562Einsufficiently evaluated noneunknown
PCDH15 S1569Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D03 from PGP sample 27486199
PCDH15 A1591Einsufficiently evaluated noneunknown
PCDH15 A1608Einsufficiently evaluated noneunknown
PCDH15 A1611Einsufficiently evaluated noneunknown
PCDH15 R1611Sinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
PCDH15 E1618Ainsufficiently evaluated noneunknown

(1 web hit)

PCDH15 A1628Einsufficiently evaluated noneunknown
PCDH15 A1631Einsufficiently evaluated noneunknown
PCDH15 A1633Einsufficiently evaluated noneunknown
PCDH15 A1638Einsufficiently evaluated none, f=0.000unknown
PCDH15 Q1656Pinsufficiently evaluated noneunknown
PCDH15 Q1661Pinsufficiently evaluated noneunknown
PCDH15 S1685Linsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
PCDH15 P1718Sinsufficiently evaluated noneunknown
PCDH15 G1746Sinsufficiently evaluated not reviewedunknown
PCDH15 P1747Sinsufficiently evaluated noneunknown
PCDH15 PAP1760Delinsufficiently evaluated not reviewed, f=0.008unknown var-GS18504-1100-36-ASM
PCDH15 P1764Sinsufficiently evaluated noneunknown
PCDH15 P1767Sinsufficiently evaluated noneunknown
PCDH15 AP1770Delinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
PCDH15 P1784Sinsufficiently evaluated noneunknown
PCDH15 P1787Sinsufficiently evaluated noneunknown
PCDH15 P1789Sinsufficiently evaluated noneunknown
PCDH15 P1794Sinsufficiently evaluated not reviewed, f=0.009unknown CGI sample GS01669-DNA_B05 from PGP sample 86486261
PCDH15 T1799Minsufficiently evaluated not reviewedunknown
PCDH15 T1828Minsufficiently evaluated not reviewedunknown
PCDH15 I1834Vinsufficiently evaluated noneunknown
PCDH15 T1845Minsufficiently evaluated not reviewedunknown
PCDH15 T1848Minsufficiently evaluated not reviewedunknown
PCDH15 I1863Vinsufficiently evaluated noneunknown
PCDH15 T1865Minsufficiently evaluated not reviewedunknown
PCDH15 T1868Minsufficiently evaluated not reviewed, f=0.008unknown
PCDH15 T1869Delinsufficiently evaluated not reviewed, f=0.062unknown var-GS19025-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
PCDH15 T1870Minsufficiently evaluated not reviewedunknown
PCDH15 T1875Minsufficiently evaluated not reviewed, f=0.005unknown CGI sample GS00253-DNA_B02_200_37
PCDH15 I1880Vinsufficiently evaluated noneunknown
PCDH15 I1883Vinsufficiently evaluated noneunknown
PCDH15 I1900Vinsufficiently evaluated noneunknown
PCDH15 I1903Vinsufficiently evaluated none, f=0.078unknown var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19129-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM
PCDH15 I1905Vinsufficiently evaluated noneunknown
PCDH15 I1910Vinsufficiently evaluated none, f=0.044unknown
PCDH17 G492Vinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B02 from PGP sample 94378523
PCDH17 V710Ginsufficiently evaluated not reviewedunknown
PCDH17 R945Qinsufficiently evaluated not reviewed, f=0.002unknown var-GS19238-1100-36-ASM
PCDH17 S950Pinsufficiently evaluated not reviewedunknown
PCDH17 C1057Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS18505-1100-36-ASM
PCDH17 S1080Xinsufficiently evaluated not reviewedunknown
PCDH18 A151Rinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_D01_200_37
PCDH18 E430Qinsufficiently evaluated not reviewed, f=0.008unknown var-GS18942-1100-36-ASM
PCDH18 S646Yinsufficiently evaluated not reviewed, f=0.008unknown var-GS18942-1100-36-ASM
PCDH18 V762Linsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
PCDH18 T1022Ainsufficiently evaluated not reviewed, f=0.009unknown CGI sample GS00253-DNA_H01_200_37
PCDH19 E48Xinsufficiently evaluated pathogenicunknown
PCDH19 Q85Xinsufficiently evaluated pathogenicunknown
PCDH19 V441Einsufficiently evaluated pathogenicunknown
PCDH19 S671Xinsufficiently evaluated pathogenicunknown
PCDH19 R933Cinsufficiently evaluated not reviewed, f=0.000unknown var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
var-GS18956-1100-36-ASM
PCDH19 N1087Hinsufficiently evaluated not reviewed, f=0.022unknown var-GS18942-1100-36-ASM
var-GS18947-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
PCDH20 S39Rinsufficiently evaluated none, f=0.048unknown var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS18558-1100-36-ASM
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS18947-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS18956-1100-36-ASM
PCDH20 G156Einsufficiently evaluated not reviewedunknown
PCDH20 I534Vinsufficiently evaluated none, f=0.007unknown var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
PCDH20 P861Sinsufficiently evaluated not reviewedunknown
PCDH21 H53Qinsufficiently evaluated noneunknown

(3 web hits)

PCDH21 R162Sinsufficiently evaluated noneunknown
PCDH21 A243Vinsufficiently evaluated noneunknown
PCDH21 I295Vinsufficiently evaluated not reviewedunknown
PCDH21 F452Linsufficiently evaluated not reviewedunknown
PCDH21 S760Iinsufficiently evaluated not reviewedunknown
PCDH21 P812Sinsufficiently evaluated noneunknown
PCDH24 G295Ainsufficiently evaluated not reviewedunknown
PCDH24 V424Ainsufficiently evaluated noneunknown
PCDH24 V457Iinsufficiently evaluated noneunknown
PCDH24 M465Linsufficiently evaluated noneunknown
PCDH24 T724Minsufficiently evaluated not reviewedunknown
PCDH24 L734Pinsufficiently evaluated not reviewedunknown
PCDH24 L766Pinsufficiently evaluated noneunknown
PCDH24 L842Vinsufficiently evaluated noneunknown
PCDH24 T1011Ninsufficiently evaluated noneunknown
PCDH24 T1128Minsufficiently evaluated noneunknown
PCDH24 L1164Minsufficiently evaluated noneunknown
PCDH24 V1282Minsufficiently evaluated not reviewedunknown
PCDH7 R3Kinsufficiently evaluated not reviewed, f=0.000unknown var-GS19669-1100-36-ASM
PCDH7 P22Linsufficiently evaluated not reviewedunknown CGI sample GS000006909
PCDH7 T325Iinsufficiently evaluated not reviewedunknown hu34D5B9 exome
PCDH7 T743Iinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
PCDH7 A1058Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS19834-1100-36-ASM
PCDH8 W7Rinsufficiently evaluated none, f=0.191unknown CGI sample GS00253-DNA_E01_200_37
var-GS18942-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS00253-DNA_D01_200_37 (hom)
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS18940-1100-36-ASM
PCDH8 T367Ainsufficiently evaluated not reviewed, f=0.033unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
PCDH8 V743Ainsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_A07 from PGP sample 96240009
PCDH8 A812Dinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D01 from PGP sample 31286272
PCDH8 E860Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS18505-1100-36-ASM
PCDH8 T1011Rinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B07 from PGP sample 61499538
PCDH9 N48Iinsufficiently evaluated not reviewedunknown
PCDH9 S569Ninsufficiently evaluated not reviewed, f=0.008unknown var-GS19025-1100-36-ASM (hom)
PCDH9 V665Iinsufficiently evaluated not reviewed, f=0.009unknown var-GS19701-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS18502-1100-36-ASM
PCDH9 P1023Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS18526-1100-36-ASM
PCDH9 H1036Ninsufficiently evaluated not reviewed, f=0.009unknown
PCDHA1 S354Xinsufficiently evaluated not reviewedunknown
PCDHA1 R360Ginsufficiently evaluated not reviewedunknown

(3 web hits)

PCDHA1 S366Ginsufficiently evaluated not reviewedunknown
PCDHA1 S434Pinsufficiently evaluated noneunknown
PCDHA1 A479Vinsufficiently evaluated noneunknown
PCDHA1 V549Minsufficiently evaluated noneunknown
PCDHA1 L666Finsufficiently evaluated noneunknown
PCDHA1 Y718Cinsufficiently evaluated noneunknown
PCDHA1 Y732Cinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants
PCDHA1 C759Finsufficiently evaluated noneunknown hu728FFF build 36 substitution variants
PCDHA10 S439Rinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants (hom)
PCDHA10 S490Yinsufficiently evaluated noneunknown
PCDHA10 V509Minsufficiently evaluated not reviewedunknown
PCDHA10 V585Ginsufficiently evaluated noneunknown
PCDHA10 T639Ainsufficiently evaluated noneunknown hu728FFF build 36 substitution variants (hom)
PCDHA10 Y697Dinsufficiently evaluated noneunknown
PCDHA10 F808Linsufficiently evaluated noneunknown
PCDHA10 F831Iinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants
PCDHA11 W336Cinsufficiently evaluated not reviewedunknown
PCDHA11 T399Iinsufficiently evaluated not reviewedunknown
PCDHA11 R754Qinsufficiently evaluated not reviewedunknown
PCDHA12 D598Ginsufficiently evaluated noneunknown
PCDHA12 A618Tinsufficiently evaluated noneunknown
PCDHA12 T662Minsufficiently evaluated not reviewedunknown
PCDHA12 V707Einsufficiently evaluated noneunknown
PCDHA13 G72Rinsufficiently evaluated noneunknown
PCDHA13 D234Einsufficiently evaluated not reviewedunknown
PCDHA2 E25Kinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants
PCDHA2 V106Linsufficiently evaluated noneunknown hu728FFF build 36 substitution variants
PCDHA2 P676Rinsufficiently evaluated noneunknown
PCDHA2 P764Linsufficiently evaluated noneunknown

(3 web hits)

PCDHA3 P61Qinsufficiently evaluated noneunknown
PCDHA3 G163Einsufficiently evaluated not reviewedunknown
PCDHA3 S286Linsufficiently evaluated noneunknown
PCDHA3 I289Tinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants
PCDHA3 I318Vinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants
PCDHA3 V418Ainsufficiently evaluated not reviewedunknown
PCDHA3 S440Rinsufficiently evaluated noneunknown
PCDHA3 S440Iinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants
PCDHA3 C759Yinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants
PCDHA3 T819Ainsufficiently evaluated noneunknown

(1 web hit)

PCDHA4 E55Dinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants
PCDHA4 R71Hinsufficiently evaluated noneunknown
PCDHA4 G72Rinsufficiently evaluated noneunknown

(1 web hit)

PCDHA4 G73Dinsufficiently evaluated noneunknown
PCDHA4 R97Qinsufficiently evaluated not reviewedunknown
PCDHA4 F133Iinsufficiently evaluated noneunknown
PCDHA4 P184Sinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants
PCDHA4 I298Vinsufficiently evaluated noneunknown
PCDHA4 N468Tinsufficiently evaluated not reviewedunknown
PCDHA4 A731Tinsufficiently evaluated noneunknown
PCDHA5 L20Finsufficiently evaluated noneunknown
PCDHA5 K39Iinsufficiently evaluated noneunknown
PCDHA5 R61Linsufficiently evaluated not reviewedunknown
PCDHA5 R208Cinsufficiently evaluated not reviewedunknown
PCDHA5 T258Ainsufficiently evaluated not reviewedunknown
PCDHA5 T353Ninsufficiently evaluated noneunknown
PCDHA5 A691Vinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants
PCDHA6 I192Tinsufficiently evaluated not reviewedunknown
PCDHA6 S417Rinsufficiently evaluated noneunknown
PCDHA6 S536Rinsufficiently evaluated not reviewedunknown
PCDHA6 L585Vinsufficiently evaluated noneunknown
PCDHA7 S88Cinsufficiently evaluated not reviewedunknown
PCDHA7 R138Kinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants
PCDHA7 A663Ginsufficiently evaluated not reviewedunknown

(2 web hits)

PCDHA7 S679Winsufficiently evaluated not reviewedunknown
PCDHA7 E692Kinsufficiently evaluated not reviewedunknown
PCDHA8 P61Qinsufficiently evaluated noneunknown
PCDHA8 F64Linsufficiently evaluated noneunknown
PCDHA8 S78Ninsufficiently evaluated noneunknown
PCDHA8 R417Sinsufficiently evaluated noneunknown
PCDHA8 P458Sinsufficiently evaluated not reviewedunknown
PCDHA8 I508Minsufficiently evaluated noneunknown
PCDHA8 T512Ainsufficiently evaluated not reviewedunknown
PCDHA8 A519Sinsufficiently evaluated noneunknown
PCDHA8 P543Qinsufficiently evaluated noneunknown
PCDHA8 N561Sinsufficiently evaluated noneunknown
PCDHA8 K579Einsufficiently evaluated noneunknown hu728FFF build 36 substitution variants
PCDHA8 L611Qinsufficiently evaluated not reviewedunknown
PCDHA8 A691Einsufficiently evaluated noneunknown
PCDHA8 P765Qinsufficiently evaluated not reviewedunknown
PCDHA9 S28Rinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants
PCDHA9 F64Linsufficiently evaluated noneunknown

(2 web hits)

PCDHA9 D111Einsufficiently evaluated noneunknown
PCDHA9 K138Rinsufficiently evaluated not reviewedunknown

(2 web hits)

PCDHA9 K138Ninsufficiently evaluated not reviewedunknown
PCDHA9 I278Tinsufficiently evaluated not reviewedunknown
PCDHA9 L336Vinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants
PCDHA9 G430Rinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants (hom)
PCDHA9 A452Einsufficiently evaluated noneunknown
PCDHA9 E501Qinsufficiently evaluated noneunknown
PCDHA9 W606Cinsufficiently evaluated not reviewedunknown
PCDHA9 A686Dinsufficiently evaluated not reviewedunknown
PCDHA9 V712Finsufficiently evaluated noneunknown
PCDHA9 K764Qinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants
PCDHA9 K764Tinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants
PCDHAC1 V467Minsufficiently evaluated noneunknown
PCDHAC1 P492Sinsufficiently evaluated noneunknown
PCDHAC1 L498Vinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants
PCDHAC1 A715Sinsufficiently evaluated noneunknown
PCDHAC1 R726Ginsufficiently evaluated not reviewedunknown
PCDHAC1 P735Linsufficiently evaluated noneunknown
PCDHAC2 Q173Hinsufficiently evaluated not reviewed, f=0.003unknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
PCDHAC2 R246Sinsufficiently evaluated not reviewedunknown
PCDHAC2 F719Linsufficiently evaluated not reviewed, f=0.002unknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
PCDHAC2 Q775Rinsufficiently evaluated not reviewedunknown
PCDHAC2 P897Rinsufficiently evaluated not reviewed, f=0.003unknown var-GS06994-1100-36-ASM
PCDHB1 K275Qinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_D06 from PGP sample 69488604
PCDHB1 L390Finsufficiently evaluated not reviewed, f=0.015unknown var-GS19025-1100-36-ASM (hom)
var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19026-1100-36-ASM
PCDHB1 R453Qinsufficiently evaluated not reviewed, f=0.008unknown var-GS19670-1100-36-ASM
PCDHB1 A516Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS06994-1100-36-ASM
PCDHB1 A524Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS19670-1100-36-ASM
PCDHB1 D596Ginsufficiently evaluated not reviewed, f=0.008unknown

(1 web hit)

CGI sample GS00253-DNA_D01_200_37
PCDHB1 I712Tinsufficiently evaluated not reviewed, f=0.040unknown

(4 web hits)

var-GS19700-1100-36-ASM
var-GS19703-1100-36-ASM (hom)
PCDHB1 K719Iinsufficiently evaluated none, f=0.009unknown

(4 web hits)

PCDHB1 F778Linsufficiently evaluated not reviewed, f=0.033unknown CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS01173-DNA_B07 from PGP sample 61499538
Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40
Total results: 1157
(Only displaying first 400 results)

Gene search

"GENE" or "GENE A123C":

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