PRNP prion protein

Canonical transcript: NM_000311

311 unique variant annotations were identified in 603 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
20-4667334-G-C c.-11+176G>C - intron_variant - 1/1 1
20-4672759-G-A c.-11+5601G>A - intron_variant - 1/1 1
20-4672816-A-G c.-11+5658A>G - intron_variant - 1/1 2
20-4677092-G-A c.-10-2765G>A - IntronicSNV - 1/1 5
20-4678781-C-T c.-10-1076C>T - IntronicSNV - 1/1 2
20-4678792-C-T c.-10-1065C>T - IntronicSNV - 1/1 2
20-4679432-T-C c.-10-425T>C - IntronicSNV - 1/1 2
20-4679519-G-A c.-10-338G>A - IntronicSNV - 1/1 2
20-4679519-G-T c.-10-338G>T - IntronicSNV - 1/1 2
20-4679897-C-A c.31C>A p.Leu11Ile Missense 2/2 - 1
20-4679913-G-C c.47G>C p.Trp16Ser Missense 2/2 - 1
20-4679915-A-G c.49A>G p.Ser17Gly Missense 2/2 - 3
20-4679915-A-C c.49A>C p.Ser17Arg Missense 2/2 - 1
20-4679917-T-A c.51T>A p.Ser17Arg Missense 2/2 - 1
20-4679917-T-G c.51T>G p.Ser17Arg Missense 2/2 - 1
20-4679918-G-A c.52G>A p.Asp18Asn Missense 2/2 - 1
20-4679919-A-G c.53A>G p.Asp18Gly Missense 2/2 - 2
20-4679933-A-C c.67A>C p.Lys23Gln Missense 2/2 - 3
20-4679936-AA-GC c.70_71delinsGC p.Lys24Ala Missense 2/2 - 1
20-4679939-C-T c.73C>T p.Arg25Cys Missense 2/2 - 1
20-4679942-C-T c.76C>T p.Pro26Ser Missense 2/2 - 1
20-4679943-C-T c.77C>T p.Pro26Leu Missense 2/2 - 1
20-4679945-AA-GC c.79_80delinsGC p.Lys27Ala Missense 2/2 - 1
20-4679966-G-A c.100G>A p.Gly34Arg Missense 2/2 - 1
20-4679966-G-C c.100G>C p.Gly34Arg Missense 2/2 - 1
20-4679970-G-C c.104G>C p.Gly35Ala Missense 2/2 - 1
20-4679970-GG-G c.104del p.Gly35Alafs*75 Frameshift 2/2 - 1
20-4679982-C-T c.116C>T p.Pro39Leu Missense 2/2 - 4
20-4679993-AG-GC c.127_128delinsGC p.Ser43Ala Missense 2/2 - 1
20-4680003-G-GG c.137dup p.Asn47Glnfs*58 Frameshift 2/2 - 1
20-4680012-A-G c.146A>G p.Tyr49Cys Missense 2/2 - 1
20-4680014-CCA-ATG c.148_150delinsATG p.Pro50Met Missense 2/2 - 1
20-4680021-A-C c.155A>C p.Gln52Pro Missense 2/2 - 1
20-4680026-G-A c.160G>A p.Gly54Ser Missense 2/2 - 7
20-4680029-TGGTGGCTGGGGGCAGCCT-T c.163_180del p.Gly55_Pro60del InFrameDeletion 2/2 - 1
20-4680039-GG-AC c.173_174delinsAC p.Gly58Asp Missense 2/2 - 1
20-4680040-G-A c.174G>A p.Gly58Gly Synonymous 2/2 - 1
20-4680040-G-C c.174G>C p.Gly58Gly Synonymous 2/2 - 1
20-4680040-G-T c.174G>T p.Gly58Gly Synonymous 2/2 - 1
20-4680047-C-T c.181C>T p.His61Tyr Missense 2/2 - 1
20-4680050-GG-CC c.184_185inv p.Gly62Pro Missense 2/2 - 1
20-4680064-G-A c.198G>A p.Gly66Gly Synonymous 2/2 - 2
20-4680064-G-C c.198G>C p.Gly66Gly Synonymous 2/2 - 2
20-4680064-G-T c.198G>T p.Gly66Gly Synonymous 2/2 - 2
20-4680066-A-T c.200A>T p.Gln67Leu Missense 2/2 - 1
20-4680070-CTCATGGTGGTGGCTGGGGGCAGCC-C c.204_227del p.Pro84_Gln91del InFrameDeletion 2/2 - 1
20-4680070-T-A c.204T>A p.Pro68Pro Synonymous 2/2 - 3
20-4680070-T-C c.204T>C p.Pro68Pro Synonymous 2/2 - 3
20-4680070-T-G c.204T>G p.Pro68Pro Synonymous 2/2 - 3
20-4680074-GG-CC c.208_209inv p.Gly70Pro Missense 2/2 - 1
20-4680078-G-C c.212G>C p.Gly71Ala Missense 2/2 - 1
20-4680087-GG-AC c.221_222delinsAC p.Gly74Asp Missense 2/2 - 1
20-4680088-GGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGG-G c.222_269del p.Pro76_Gln91del InFrameDeletion 2/2 - 1
20-4680089-CA-TC c.223_224delinsTC p.Gln75Ser Missense 2/2 - 1
20-4680089-GC-G c.223del p.Gln75Serfs*35 Frameshift 2/2 - 1
20-4680098-GG-CC c.232_233inv p.Gly78Pro Missense 2/2 - 1
20-4680099-G-C c.233G>C p.Gly78Ala Missense 2/2 - 1
20-4680105-G-GGGC c.239_240insGGC p.Gly80_Trp81insAla InFrameInsertion 2/2 - 1
20-4680116-C-T c.250C>T p.Pro84Ser Missense 2/2 - 6
20-4680119-C-A c.253C>A p.His85Asn Missense 2/2 - 1
20-4680122-G-A c.256G>A p.Gly86Ser Missense 2/2 - 1
20-4680122-GG-CC c.256_257inv p.Gly86Pro Missense 2/2 - 1
20-4680132-G-A c.266G>A p.Trp89* Nonsense 2/2 - 1
20-4680133-G-A c.267G>A p.Trp89* Nonsense 2/2 - 1
20-4680134-G-GC c.268_269insC p.Gly90Alafs*15 Frameshift 2/2 - 2
20-4680140-G-T c.274G>T p.Gly92* Nonsense 2/2 - 1
20-4680141-G-A c.275G>A p.Gly92Glu Missense 2/2 - 1
20-4680143-G-T c.277G>T p.Gly93Cys Missense 2/2 - 1
20-4680144-G-C c.278G>C p.Gly93Ala Missense 2/2 - 8
20-4680152-C-T c.286C>T p.His96Tyr Missense 2/2 - 1
20-4680155-AG-GA c.289_290delinsGA p.Ser97Asp Missense 2/2 - 1
20-4680156-G-A c.290G>A p.Ser97Asn Missense 2/2 - 4
20-4680164-AAC-TAA c.298_300delinsTAA p.Asn100* Nonsense 2/2 - 1
20-4680165-AC-TG c.299_300delinsTG p.Asn100Met Missense 2/2 - 1
20-4680167-A-G c.301A>G p.Lys101Glu Missense 2/2 - 2
20-4680168-A-G c.302A>G p.Lys101Arg Missense 2/2 - 2
20-4680171-C-T c.305C>T p.Pro102Leu Missense 2/2 - 212
20-4680176-A-G c.310A>G p.Lys104Glu Missense 2/2 - 1
20-4680179-C-A c.313C>A p.Pro105Thr Missense 2/2 - 9
20-4680179-C-T c.313C>T p.Pro105Ser Missense 2/2 - 9
20-4680180-C-T c.314C>T p.Pro105Leu Missense 2/2 - 59
20-4680185-AC-TG c.319_320delinsTG p.Thr107Cys Missense 2/2 - 1
20-4680189-A-T c.323A>T p.Asn108Ile Missense 2/2 - 1
20-4680193-G-A c.327G>A p.Met109Ile Missense 2/2 - 2
20-4680193-G-C c.327G>C p.Met109Ile Missense 2/2 - 2
20-4680193-G-T c.327G>T p.Met109Ile Missense 2/2 - 2
20-4680200-A-G c.334A>G p.Met112Val Missense 2/2 - 1
20-4680201-T-C c.335T>C p.Met112Thr Missense 2/2 - 6
20-4680202-G-A c.336G>A p.Met112Ile Missense 2/2 - 1
20-4680202-G-C c.336G>C p.Met112Ile Missense 2/2 - 1
20-4680202-G-T c.336G>T p.Met112Ile Missense 2/2 - 1
20-4680206-GGT-AAG c.340_342delinsAAG p.Gly114Lys Missense 2/2 - 1
20-4680207-G-T c.341G>T p.Gly114Val Missense 2/2 - 29
20-4680212-G-C c.346G>C p.Ala116Pro Missense 2/2 - 1
20-4680213-C-A c.347C>A p.Ala116Glu Missense 2/2 - 1
20-4680213-C-G c.347C>G p.Ala116Gly Missense 2/2 - 5
20-4680213-C-T c.347C>T p.Ala116Val Missense 2/2 - 12
20-4680215-GC-CT c.349_350delinsCT p.Ala117Leu Missense 2/2 - 1
20-4680216-C-T c.350C>T p.Ala117Val Missense 2/2 - 103
20-4680217-A-C c.351A>C p.Ala117Ala Synonymous 2/2 - 7
20-4680217-A-G c.351A>G p.Ala117Ala Synonymous 2/2 - 7
20-4680217-A-T c.351A>T p.Ala117Ala Synonymous 2/2 - 7
20-4680221-G-A c.355G>A p.Gly119Arg Missense 2/2 - 1
20-4680221-G-C c.355G>C p.Gly119Arg Missense 2/2 - 1
20-4680230-GTG-ATC c.364_366delinsATC p.Val122Ile Missense 2/2 - 1
20-4680233-GG-CC c.367_368inv p.Gly123Pro Missense 2/2 - 2
20-4680238-C-G c.372C>G p.Gly124Gly Synonymous 2/2 - 2
20-4680239-C-T c.373C>T p.Leu125Phe Missense 2/2 - 1
20-4680242-GG-TT c.376_377delinsTT p.Gly126Phe Missense 2/2 - 1
20-4680243-G-T c.377G>T p.Gly126Val Missense 2/2 - 1
20-4680245-G-A c.379G>A p.Gly127Ser Missense 2/2 - 15
20-4680245-GGC-TGA c.379_381delinsTGA p.Gly127* Nonsense 2/2 - 1
20-4680246-G-C c.380G>C p.Gly127Ala Missense 2/2 - 2
20-4680246-G-T c.380G>T p.Gly127Val Missense 2/2 - 24
20-4680247-C-A c.381C>A p.Gly127Gly Synonymous 2/2 - 1
20-4680247-C-G c.381C>G p.Gly127Gly Synonymous 2/2 - 1
20-4680247-C-T c.381C>T p.Gly127Gly Synonymous 2/2 - 1
20-4680251-A-C c.385A>C p.Met129Leu Missense 2/2 - 2
20-4680251-A-G c.385A>G p.Met129Val Missense 2/2 - 105
20-4680251-A-T c.385A>T p.Met129Leu Missense 2/2 - 2
20-4680251-AT-CC c.385_386delinsCC p.Met129Pro Missense 2/2 - 2
20-4680251-AT-GA c.385_386delinsGA p.Met129Glu Missense 2/2 - 2
20-4680251-AT-GC c.385_386delinsGC p.Met129Ala Missense 2/2 - 1
20-4680251-ATG-TGT c.385_387delinsTGT p.Met129Cys Missense 2/2 - 2
20-4680251-AT-TG c.385_386delinsTG p.Met129Trp Missense 2/2 - 2
20-4680252-T-A c.386T>A p.Met129Lys Missense 2/2 - 2
20-4680252-T-C c.386T>C p.Met129Thr Missense 2/2 - 2
20-4680252-TG-GC c.386_387delinsGC p.Met129Ser Missense 2/2 - 1
20-4680257-G-A c.391G>A p.Gly131Arg Missense 2/2 - 2
20-4680258-G-T c.392G>T p.Gly131Val Missense 2/2 - 27
20-4680260-AG-GT c.394_395delinsGT p.Ser132Val Missense 2/2 - 1
20-4680261-G-T c.395G>T p.Ser132Ile Missense 2/2 - 7
20-4680264-C-T c.398C>T p.Ala133Val Missense 2/2 - 8
20-4680266-A-G c.400A>G p.Met134Val Missense 2/2 - 1
20-4680267-TG-GC c.401_402delinsGC p.Met134Ser Missense 2/2 - 1
20-4680269-A-T c.403A>T p.Ser135Cys Missense 2/2 - 1
20-4680275-CCC-ATG c.409_411delinsATG p.Pro137Met Missense 2/2 - 2
20-4680278-A-C c.412A>C p.Ile138Leu Missense 2/2 - 1
20-4680284-CA-AG c.418_419delinsAG p.His140Ser Missense 2/2 - 2
20-4680287-T-C c.421T>C p.Phe141Leu Missense 2/2 - 1
20-4680287-TT-CG c.421_422delinsCG p.Phe141Arg Missense 2/2 - 1
20-4680289-C-A c.423C>A p.Phe141Leu Missense 2/2 - 1
20-4680289-C-G c.423C>G p.Phe141Leu Missense 2/2 - 1
20-4680290-G-A c.424G>A p.Gly142Ser Missense 2/2 - 7
20-4680290-GG-AA c.424_425delinsAA p.Gly142Asn Missense 2/2 - 1
20-4680291-G-A c.425G>A p.Gly142Asp Missense 2/2 - 2
20-4680294-G-A c.428G>A p.Ser143Asn Missense 2/2 - 1
20-4680296-GA-CC c.430_431delinsCC p.Asp144Pro Missense 2/2 - 2
20-4680300-A-G c.434A>G p.Tyr145Cys Missense 2/2 - 1
20-4680301-T-G c.435T>G p.Tyr145* Nonsense 2/2 - 27
20-4680302-G-C c.436G>C p.Glu146Gln Missense 2/2 - 1
20-4680303-A-G c.437A>G p.Glu146Gly Missense 2/2 - 3
20-4680307-C-A c.441C>A p.Asp147Glu Missense 2/2 - 1
20-4680307-C-G c.441C>G p.Asp147Glu Missense 2/2 - 1
20-4680308-CG-AA c.442_443delinsAA p.Arg148Asn Missense 2/2 - 1
20-4680309-G-A c.443G>A p.Arg148His Missense 2/2 - 10
20-4680317-C-G c.451C>G p.Arg151Gly Missense 2/2 - 1
20-4680317-C-T c.451C>T p.Arg151Cys Missense 2/2 - 3
20-4680318-G-A c.452G>A p.Arg151His Missense 2/2 - 10
20-4680327-TG-GC c.461_462delinsGC p.Met154Ser Missense 2/2 - 1
20-4680329-C-T c.463C>T p.His155Tyr Missense 2/2 - 1
20-4680332-C-T c.466C>T p.Arg156Cys Missense 2/2 - 1
20-4680344-C-T c.478C>T p.Gln160* Nonsense 2/2 - 26
20-4680350-T-C c.484T>C p.Tyr162His Missense 2/2 - 1
20-4680355-C-G c.489C>G p.Tyr163* Nonsense 2/2 - 31
20-4680361-C-CCTCCC c.495_496insCTCCC p.Met166Leufs*42 Frameshift 2/2 - 1
20-4680362-A-G c.496A>G p.Met166Val Missense 2/2 - 3
20-4680362-ATG-TGT c.496_498delinsTGT p.Met166Cys Missense 2/2 - 2
20-4680364-G-A c.498G>A p.Met166Ile Missense 2/2 - 1
20-4680364-G-C c.498G>C p.Met166Ile Missense 2/2 - 1
20-4680364-G-T c.498G>T p.Met166Ile Missense 2/2 - 1
20-4680365-G-A c.499G>A p.Asp167Asn Missense 2/2 - 7
20-4680365-GA-AG c.499_500delinsAG p.Asp167Ser Missense 2/2 - 7
20-4680366-A-G c.500A>G p.Asp167Gly Missense 2/2 - 5
20-4680368-G-C c.502G>C p.Glu168Gln Missense 2/2 - 3
20-4680371-TA-GG c.505_506delinsGG p.Tyr169Gly Missense 2/2 - 3
20-4680373-C-A c.507C>A p.Tyr169* Nonsense 2/2 - 1
20-4680374-A-G c.508A>G p.Ser170Gly Missense 2/2 - 1
20-4680374-AG-TT c.508_509delinsTT p.Ser170Phe Missense 2/2 - 1
20-4680375-G-A c.509G>A p.Ser170Asn Missense 2/2 - 20
20-4680378-A-G c.512A>G p.Asn171Ser Missense 2/2 - 12
20-4680383-A-C c.517A>C p.Asn173His Missense 2/2 - 1
20-4680384-A-C c.518A>C p.Asn173Thr Missense 2/2 - 3
20-4680384-A-G c.518A>G p.Asn173Ser Missense 2/2 - 2
20-4680385-C-A c.519C>A p.Asn173Lys Missense 2/2 - 2
20-4680385-C-G c.519C>G p.Asn173Lys Missense 2/2 - 2
20-4680387-A-C c.521A>C p.Asn174Thr Missense 2/2 - 13
20-4680389-TT-GC c.523_524delinsGC p.Phe175Ala Missense 2/2 - 1
20-4680393-T-G c.527T>G p.Val176Gly Missense 2/2 - 8
20-4680395-C-A c.529C>A p.His177Asn Missense 2/2 - 1
20-4680395-CA-AG c.529_530delinsAG p.His177Ser Missense 2/2 - 2
20-4680398-G-A c.532G>A p.Asp178Asn Missense 2/2 - 199
20-4680398-GAC-ATG c.532_534delinsATG p.Asp178Met Missense 2/2 - 3
20-4680404-G-A c.538G>A p.Val180Ile Missense 2/2 - 74
20-4680404-G-T c.538G>T p.Val180Phe Missense 2/2 - 1
20-4680404-GT-AA c.538_539delinsAA p.Val180Asn Missense 2/2 - 2
20-4680407-AA-GG c.541_542delinsGG p.Asn181Gly Missense 2/2 - 1
20-4680407-AAT-CAA c.541_543delinsCAA p.Asn181Gln Missense 2/2 - 5
20-4680407-A-G c.541A>G p.Asn181Asp Missense 2/2 - 1
20-4680408-A-G c.542A>G p.Asn181Ser Missense 2/2 - 2
20-4680408-A-T c.542A>T p.Asn181Ile Missense 2/2 - 2
20-4680412-C-A c.546C>A p.Ile182Ile Synonymous 2/2 - 2
20-4680413-A-G c.547A>G p.Thr183Ala Missense 2/2 - 53
20-4680416-A-G c.550A>G p.Ile184Val Missense 2/2 - 1
20-4680420-A-C c.554A>C p.Lys185Thr Missense 2/2 - 1
20-4680425-CA-AG c.559_560delinsAG p.His187Ser Missense 2/2 - 1
20-4680425-CA-GC c.559_560delinsGC p.His187Ala Missense 2/2 - 1
20-4680425-C-T c.559C>T p.His187Tyr Missense 2/2 - 2
20-4680426-A-G c.560A>G p.His187Arg Missense 2/2 - 28
20-4680428-A-G c.562A>G p.Thr188Ala Missense 2/2 - 11
20-4680429-C-A c.563C>A p.Thr188Lys Missense 2/2 - 28
20-4680429-C-G c.563C>G p.Thr188Arg Missense 2/2 - 12
20-4680431-G-A c.565G>A p.Val189Ile Missense 2/2 - 4
20-4680437-A-C c.571A>C p.Thr191Pro Missense 2/2 - 3
20-4680437-AC-GT c.571_572inv p.Thr191Val Missense 2/2 - 1
20-4680437-A-G c.571A>G p.Thr191Ala Missense 2/2 - 1
20-4680440-A-G c.574A>G p.Thr192Ala Missense 2/2 - 1
20-4680444-C-T c.578C>T p.Thr193Ile Missense 2/2 - 7
20-4680445-C-A c.579C>A p.Thr193Thr Synonymous 2/2 - 1
20-4680445-C-G c.579C>G p.Thr193Thr Synonymous 2/2 - 1
20-4680445-C-T c.579C>T p.Thr193Thr Synonymous 2/2 - 1
20-4680452-G-A c.586G>A p.Glu196Lys Missense 2/2 - 34
20-4680452-GA-AG c.586_587delinsAG p.Glu196Arg Missense 2/2 - 1
20-4680452-GG-G c.586del p.Glu196Argfs*10 Frameshift 2/2 - 1
20-4680453-A-C c.587A>C p.Glu196Ala Missense 2/2 - 11
20-4680455-AAC-CAA c.589_591delinsCAA p.Asn197Gln Missense 2/2 - 1
20-4680455-AA-TT c.589_590inv p.Asn197Phe Missense 2/2 - 2
20-4680457-C-T c.591C>T p.Asn197Asn Synonymous 2/2 - 1
20-4680458-T-G c.592T>G p.Phe198Val Missense 2/2 - 2
20-4680459-T-C c.593T>C p.Phe198Ser Missense 2/2 - 75
20-4680459-TC-GG c.593_594delinsGG p.Phe198Trp Missense 2/2 - 1
20-4680461-A-G c.595A>G p.Thr199Ala Missense 2/2 - 2
20-4680464-G-A c.598G>A p.Glu200Lys Missense 2/2 - 246
20-4680465-A-C c.599A>C p.Glu200Ala Missense 2/2 - 1
20-4680465-A-G c.599A>G p.Glu200Gly Missense 2/2 - 9
20-4680468-C-G c.602C>G p.Thr201Ser Missense 2/2 - 1
20-4680470-G-A c.604G>A p.Asp202Asn Missense 2/2 - 28
20-4680471-A-G c.605A>G p.Asp202Gly Missense 2/2 - 3
20-4680472-C-T c.606C>T p.Asp202Asp Synonymous 2/2 - 1
20-4680473-G-A c.607G>A p.Val203Ile Missense 2/2 - 38
20-4680473-GTT-TAA c.607_609delinsTAA p.Val203* Nonsense 2/2 - 1
20-4680474-T-G c.608T>G p.Val203Gly Missense 2/2 - 1
20-4680476-AA-CC c.610_611delinsCC p.Lys204Pro Missense 2/2 - 1
20-4680476-AA-GC c.610_611delinsGC p.Lys204Ala Missense 2/2 - 1
20-4680478-G-C c.612G>C p.Lys204Asn Missense 2/2 - 1
20-4680478-G-T c.612G>T p.Lys204Asn Missense 2/2 - 1
20-4680479-AT-GC c.613_614delinsGC p.Met205Ala Missense 2/2 - 1
20-4680483-TG-GC c.617_618delinsGC p.Met206Ser Missense 2/2 - 2
20-4680488-CG-AT c.622_623delinsAT p.Arg208Ile Missense 2/2 - 1
20-4680488-C-T c.622C>T p.Arg208Cys Missense 2/2 - 7
20-4680489-G-A c.623G>A p.Arg208His Missense 2/2 - 32
20-4680491-G-A c.625G>A p.Val209Met Missense 2/2 - 5
20-4680491-GTG-ATC c.625_627delinsATC p.Val209Ile Missense 2/2 - 1
20-4680494-G-A c.628G>A p.Val210Ile Missense 2/2 - 76
20-4680494-G-C c.628G>C p.Val210Leu Missense 2/2 - 1
20-4680494-G-T c.628G>T p.Val210Phe Missense 2/2 - 1
20-4680494-GT-CC c.628_629delinsCC p.Val210Pro Missense 2/2 - 1
20-4680495-T-C c.629T>C p.Val210Ala Missense 2/2 - 1
20-4680497-G-A c.631G>A p.Glu211Lys Missense 2/2 - 21
20-4680497-GAG-AAC c.631_633delinsAAC p.Glu211Asn Missense 2/2 - 1
20-4680497-G-C c.631G>C p.Glu211Gln Missense 2/2 - 25
20-4680499-G-C c.633G>C p.Glu211Asp Missense 2/2 - 3
20-4680499-G-T c.633G>T p.Glu211Asp Missense 2/2 - 3
20-4680501-A-C c.635A>C p.Gln212Pro Missense 2/2 - 33
20-4680501-A-G c.635A>G p.Gln212Arg Missense 2/2 - 1
20-4680502-G-C c.636G>C p.Gln212His Missense 2/2 - 1
20-4680502-G-T c.636G>T p.Gln212His Missense 2/2 - 1
20-4680503-AT-GC c.637_638delinsGC p.Met213Ala Missense 2/2 - 1
20-4680504-TG-GC c.638_639delinsGC p.Met213Ser Missense 2/2 - 2
20-4680506-T-G c.640T>G p.Cys214Gly Missense 2/2 - 1
20-4680509-A-G c.643A>G p.Ile215Val Missense 2/2 - 9
20-4680515-C-A c.649C>A p.Gln217Lys Missense 2/2 - 1
20-4680516-A-G c.650A>G p.Gln217Arg Missense 2/2 - 38
20-4680518-T-A c.652T>A p.Tyr218Asn Missense 2/2 - 19
20-4680519-A-G c.653A>G p.Tyr218Cys Missense 2/2 - 1
20-4680521-G-A c.655G>A p.Glu219Lys Missense 2/2 - 39
20-4680521-G-C c.655G>C p.Glu219Gln Missense 2/2 - 1
20-4680522-A-G c.656A>G p.Glu219Gly Missense 2/2 - 1
20-4680523-G-A c.657G>A p.Glu219Glu Synonymous 2/2 - 5
20-4680525-G-A c.659G>A p.Arg220Lys Missense 2/2 - 3
20-4680527-GAA-TGT c.661_663delinsTGT p.Glu221Cys Missense 2/2 - 1
20-4680528-A-G c.662A>G p.Glu221Gly Missense 2/2 - 1
20-4680535-G-C c.669G>C p.Gln223His Missense 2/2 - 1
20-4680535-G-T c.669G>T p.Gln223His Missense 2/2 - 1
20-4680537-C-T c.671C>T p.Ala224Val Missense 2/2 - 5
20-4680540-A-G c.674A>G p.Tyr225Cys Missense 2/2 - 1
20-4680541-T-A c.675T>A p.Tyr225* Nonsense 2/2 - 1
20-4680541-T-G c.675T>G p.Tyr225* Nonsense 2/2 - 1
20-4680542-TA-GC c.676_677delinsGC p.Tyr226Ala Missense 2/2 - 1
20-4680544-C-A c.678C>A p.Tyr226* Nonsense 2/2 - 21
20-4680544-C-G c.678C>G p.Tyr226* Nonsense 2/2 - 21
20-4680545-C-T c.679C>T p.Gln227* Nonsense 2/2 - 16
20-4680548-AG-GC c.682_683delinsGC p.Arg228Ala Missense 2/2 - 1
20-4680551-G-A c.685G>A p.Gly229Arg Missense 2/2 - 1
20-4680551-G-C c.685G>C p.Gly229Arg Missense 2/2 - 1
20-4680552-G-C c.686G>C p.Gly229Ala Missense 2/2 - 1
20-4680554-TC-GG c.688_689delinsGG p.Ser230Gly Missense 2/2 - 2
20-4680555-CG-GT c.689_690delinsGT p.Ser230Cys Missense 2/2 - 1
20-4680555-C-T c.689C>T p.Ser230Leu Missense 2/2 - 1
20-4680557-AG-GT c.691_692delinsGT p.Ser231Val Missense 2/2 - 1
20-4680561-T-C c.695T>C p.Met232Thr Missense 2/2 - 13
20-4680561-T-G c.695T>G p.Met232Arg Missense 2/2 - 43
20-4680566-CT-GC c.700_701delinsGC p.Leu234Ala Missense 2/2 - 1
20-4680578-C-T c.712C>T p.Pro238Ser Missense 2/2 - 10
20-4680596-A-G c.730A>G p.Ile244Val Missense 2/2 - 2
20-4680596-A-T c.730A>T p.Ile244Phe Missense 2/2 - 1
20-4680614-CTG-TAT c.748_750delinsTAT p.Leu250Tyr Missense 2/2 - 1
20-4680620-G-C c.754G>C p.Val252Leu Missense 2/2 - 1
20-4680620-G-T c.754G>T p.Val252Leu Missense 2/2 - 1
20-4681310-A-G c.*682A>G - 3-UTRSNV 2/2 - 1
20-4682040-T-A c.*1412T>A - 3-UTRSNV 2/2 - 1