Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.21841116G>ACA416547308HSPG2c.9498C>T (p.Ser3166=)
c.9501C>T (p.Ser3167=)
c.10044C>T (p.Ser3348=)
c.9996C>T (p.Ser3332=)
c.9975C>T (p.Ser3325=)
c.10047C>T (p.Ser3349=)
c.9768C>T (p.Ser3256=)
c.9552C>T (p.Ser3184=)
c.9693C>T (p.Ser3231=)
c.9642C>T (p.Ser3214=)
c.9639C>T (p.Ser3213=)
1g.21841116G>CCA338913991HSPG2c.9498C>G (p.Ser3166Arg)
c.9501C>G (p.Ser3167Arg)
c.10044C>G (p.Ser3348Arg)
c.9996C>G (p.Ser3332Arg)
c.9975C>G (p.Ser3325Arg)
c.10047C>G (p.Ser3349Arg)
c.9768C>G (p.Ser3256Arg)
c.9552C>G (p.Ser3184Arg)
c.9693C>G (p.Ser3231Arg)
c.9642C>G (p.Ser3214Arg)
c.9639C>G (p.Ser3213Arg)
1g.21841116G=CA1158133628HSPG2c.9498C= (p.Ser3166=)
c.9501C= (p.Ser3167=)
c.10044C= (p.Ser3348=)
c.9996C= (p.Ser3332=)
c.9975C= (p.Ser3325=)
c.10047C= (p.Ser3349=)
c.9768C= (p.Ser3256=)
c.9552C= (p.Ser3184=)
c.9693C= (p.Ser3231=)
c.9642C= (p.Ser3214=)
c.9639C= (p.Ser3213=)
1g.21841116G>TCA338913992HSPG2c.9498C>A (p.Ser3166Arg)
c.9501C>A (p.Ser3167Arg)
c.10044C>A (p.Ser3348Arg)
c.9996C>A (p.Ser3332Arg)
c.9975C>A (p.Ser3325Arg)
c.10047C>A (p.Ser3349Arg)
c.9768C>A (p.Ser3256Arg)
c.9552C>A (p.Ser3184Arg)
c.9693C>A (p.Ser3231Arg)
c.9642C>A (p.Ser3214Arg)
c.9639C>A (p.Ser3213Arg)
dbSNP gnomAD v2 gnomAD v4
1g.21841117C>ACA338913993HSPG2c.9497G>T (p.Ser3166Ile)
c.9500G>T (p.Ser3167Ile)
c.10043G>T (p.Ser3348Ile)
c.9995G>T (p.Ser3332Ile)
c.9974G>T (p.Ser3325Ile)
c.10046G>T (p.Ser3349Ile)
c.9767G>T (p.Ser3256Ile)
c.9551G>T (p.Ser3184Ile)
c.9692G>T (p.Ser3231Ile)
c.9641G>T (p.Ser3214Ile)
c.9638G>T (p.Ser3213Ile)
1g.21841117C>GCA338913994HSPG2c.9497G>C (p.Ser3166Thr)
c.9500G>C (p.Ser3167Thr)
c.10043G>C (p.Ser3348Thr)
c.9995G>C (p.Ser3332Thr)
c.9974G>C (p.Ser3325Thr)
c.10046G>C (p.Ser3349Thr)
c.9767G>C (p.Ser3256Thr)
c.9551G>C (p.Ser3184Thr)
c.9692G>C (p.Ser3231Thr)
c.9641G>C (p.Ser3214Thr)
c.9638G>C (p.Ser3213Thr)
1g.21841117C>TCA338913995HSPG2c.9497G>A (p.Ser3166Asn)
c.9500G>A (p.Ser3167Asn)
c.10043G>A (p.Ser3348Asn)
c.9995G>A (p.Ser3332Asn)
c.9974G>A (p.Ser3325Asn)
c.10046G>A (p.Ser3349Asn)
c.9767G>A (p.Ser3256Asn)
c.9551G>A (p.Ser3184Asn)
c.9692G>A (p.Ser3231Asn)
c.9641G>A (p.Ser3214Asn)
c.9638G>A (p.Ser3213Asn)
1g.21841118T>ACA338913998HSPG2c.9496A>T (p.Ser3166Cys)
c.9499A>T (p.Ser3167Cys)
c.10042A>T (p.Ser3348Cys)
c.9994A>T (p.Ser3332Cys)
c.9973A>T (p.Ser3325Cys)
c.10045A>T (p.Ser3349Cys)
c.9766A>T (p.Ser3256Cys)
c.9550A>T (p.Ser3184Cys)
c.9691A>T (p.Ser3231Cys)
c.9640A>T (p.Ser3214Cys)
c.9637A>T (p.Ser3213Cys)
1g.21841118T>CCA338913996HSPG2c.9496A>G (p.Ser3166Gly)
c.9499A>G (p.Ser3167Gly)
c.10042A>G (p.Ser3348Gly)
c.9994A>G (p.Ser3332Gly)
c.9973A>G (p.Ser3325Gly)
c.10045A>G (p.Ser3349Gly)
c.9766A>G (p.Ser3256Gly)
c.9550A>G (p.Ser3184Gly)
c.9691A>G (p.Ser3231Gly)
c.9640A>G (p.Ser3214Gly)
c.9637A>G (p.Ser3213Gly)
dbSNP gnomAD v4
1g.21841118T>GCA338913997HSPG2c.9496A>C (p.Ser3166Arg)
c.9499A>C (p.Ser3167Arg)
c.10042A>C (p.Ser3348Arg)
c.9994A>C (p.Ser3332Arg)
c.9973A>C (p.Ser3325Arg)
c.10045A>C (p.Ser3349Arg)
c.9766A>C (p.Ser3256Arg)
c.9550A>C (p.Ser3184Arg)
c.9691A>C (p.Ser3231Arg)
c.9640A>C (p.Ser3214Arg)
c.9637A>C (p.Ser3213Arg)
1g.21841118T=CA1158133629HSPG2c.9496A= (p.Ser3166=)
c.9499A= (p.Ser3167=)
c.10042A= (p.Ser3348=)
c.9994A= (p.Ser3332=)
c.9973A= (p.Ser3325=)
c.10045A= (p.Ser3349=)
c.9766A= (p.Ser3256=)
c.9550A= (p.Ser3184=)
c.9691A= (p.Ser3231=)
c.9640A= (p.Ser3214=)
c.9637A= (p.Ser3213=)
1g.21841119G>ACA416547311HSPG2c.9495C>T (p.Asp3165=)
c.9498C>T (p.Asp3166=)
c.10041C>T (p.Asp3347=)
c.9993C>T (p.Asp3331=)
c.9972C>T (p.Asp3324=)
c.10044C>T (p.Asp3348=)
c.9765C>T (p.Asp3255=)
c.9549C>T (p.Asp3183=)
c.9690C>T (p.Asp3230=)
c.9639C>T (p.Asp3213=)
c.9636C>T (p.Asp3212=)
gnomAD v4
1g.21841119G>CCA338913999HSPG2c.9495C>G (p.Asp3165Glu)
c.9498C>G (p.Asp3166Glu)
c.10041C>G (p.Asp3347Glu)
c.9993C>G (p.Asp3331Glu)
c.9972C>G (p.Asp3324Glu)
c.10044C>G (p.Asp3348Glu)
c.9765C>G (p.Asp3255Glu)
c.9549C>G (p.Asp3183Glu)
c.9690C>G (p.Asp3230Glu)
c.9639C>G (p.Asp3213Glu)
c.9636C>G (p.Asp3212Glu)
1g.21841119G>TCA338914000HSPG2c.9495C>A (p.Asp3165Glu)
c.9498C>A (p.Asp3166Glu)
c.10041C>A (p.Asp3347Glu)
c.9993C>A (p.Asp3331Glu)
c.9972C>A (p.Asp3324Glu)
c.10044C>A (p.Asp3348Glu)
c.9765C>A (p.Asp3255Glu)
c.9549C>A (p.Asp3183Glu)
c.9690C>A (p.Asp3230Glu)
c.9639C>A (p.Asp3213Glu)
c.9636C>A (p.Asp3212Glu)
1g.21841120T>ACA338914001HSPG2c.9494A>T (p.Asp3165Val)
c.9497A>T (p.Asp3166Val)
c.10040A>T (p.Asp3347Val)
c.9992A>T (p.Asp3331Val)
c.9971A>T (p.Asp3324Val)
c.10043A>T (p.Asp3348Val)
c.9764A>T (p.Asp3255Val)
c.9548A>T (p.Asp3183Val)
c.9689A>T (p.Asp3230Val)
c.9638A>T (p.Asp3213Val)
c.9635A>T (p.Asp3212Val)
1g.21841120T>CCA338914002HSPG2c.9494A>G (p.Asp3165Gly)
c.9497A>G (p.Asp3166Gly)
c.10040A>G (p.Asp3347Gly)
c.9992A>G (p.Asp3331Gly)
c.9971A>G (p.Asp3324Gly)
c.10043A>G (p.Asp3348Gly)
c.9764A>G (p.Asp3255Gly)
c.9548A>G (p.Asp3183Gly)
c.9689A>G (p.Asp3230Gly)
c.9638A>G (p.Asp3213Gly)
c.9635A>G (p.Asp3212Gly)
1g.21841120T>GCA338914003HSPG2c.9494A>C (p.Asp3165Ala)
c.9497A>C (p.Asp3166Ala)
c.10040A>C (p.Asp3347Ala)
c.9992A>C (p.Asp3331Ala)
c.9971A>C (p.Asp3324Ala)
c.10043A>C (p.Asp3348Ala)
c.9764A>C (p.Asp3255Ala)
c.9548A>C (p.Asp3183Ala)
c.9689A>C (p.Asp3230Ala)
c.9638A>C (p.Asp3213Ala)
c.9635A>C (p.Asp3212Ala)
1g.21841121C>ACA338914004HSPG2c.9493G>T (p.Asp3165Tyr)
c.9496G>T (p.Asp3166Tyr)
c.10039G>T (p.Asp3347Tyr)
c.9991G>T (p.Asp3331Tyr)
c.9970G>T (p.Asp3324Tyr)
c.10042G>T (p.Asp3348Tyr)
c.9763G>T (p.Asp3255Tyr)
c.9547G>T (p.Asp3183Tyr)
c.9688G>T (p.Asp3230Tyr)
c.9637G>T (p.Asp3213Tyr)
c.9634G>T (p.Asp3212Tyr)
1g.21841121C=CA1158133630HSPG2c.9493G= (p.Asp3165=)
c.9496G= (p.Asp3166=)
c.10039G= (p.Asp3347=)
c.9991G= (p.Asp3331=)
c.9970G= (p.Asp3324=)
c.10042G= (p.Asp3348=)
c.9763G= (p.Asp3255=)
c.9547G= (p.Asp3183=)
c.9688G= (p.Asp3230=)
c.9637G= (p.Asp3213=)
c.9634G= (p.Asp3212=)
1g.21841121C>GCA338914006HSPG2c.9493G>C (p.Asp3165His)
c.9496G>C (p.Asp3166His)
c.10039G>C (p.Asp3347His)
c.9991G>C (p.Asp3331His)
c.9970G>C (p.Asp3324His)
c.10042G>C (p.Asp3348His)
c.9763G>C (p.Asp3255His)
c.9547G>C (p.Asp3183His)
c.9688G>C (p.Asp3230His)
c.9637G>C (p.Asp3213His)
c.9634G>C (p.Asp3212His)
1g.21841121C>TCA338914005HSPG2c.9493G>A (p.Asp3165Asn)
c.9496G>A (p.Asp3166Asn)
c.10039G>A (p.Asp3347Asn)
c.9991G>A (p.Asp3331Asn)
c.9970G>A (p.Asp3324Asn)
c.10042G>A (p.Asp3348Asn)
c.9763G>A (p.Asp3255Asn)
c.9547G>A (p.Asp3183Asn)
c.9688G>A (p.Asp3230Asn)
c.9637G>A (p.Asp3213Asn)
c.9634G>A (p.Asp3212Asn)
dbSNP gnomAD v2 gnomAD v4
1g.21841122C>ACA338914007HSPG2c.9492G>T (p.Met3164Ile)
c.9495G>T (p.Met3165Ile)
c.10038G>T (p.Met3346Ile)
c.9990G>T (p.Met3330Ile)
c.9969G>T (p.Met3323Ile)
c.10041G>T (p.Met3347Ile)
c.9762G>T (p.Met3254Ile)
c.9546G>T (p.Met3182Ile)
c.9687G>T (p.Met3229Ile)
c.9636G>T (p.Met3212Ile)
c.9633G>T (p.Met3211Ile)
1g.21841122C>GCA338914008HSPG2c.9492G>C (p.Met3164Ile)
c.9495G>C (p.Met3165Ile)
c.10038G>C (p.Met3346Ile)
c.9990G>C (p.Met3330Ile)
c.9969G>C (p.Met3323Ile)
c.10041G>C (p.Met3347Ile)
c.9762G>C (p.Met3254Ile)
c.9546G>C (p.Met3182Ile)
c.9687G>C (p.Met3229Ile)
c.9636G>C (p.Met3212Ile)
c.9633G>C (p.Met3211Ile)
1g.21841122C>TCA338914009HSPG2c.9492G>A (p.Met3164Ile)
c.9495G>A (p.Met3165Ile)
c.10038G>A (p.Met3346Ile)
c.9990G>A (p.Met3330Ile)
c.9969G>A (p.Met3323Ile)
c.10041G>A (p.Met3347Ile)
c.9762G>A (p.Met3254Ile)
c.9546G>A (p.Met3182Ile)
c.9687G>A (p.Met3229Ile)
c.9636G>A (p.Met3212Ile)
c.9633G>A (p.Met3211Ile)
gnomAD v4
1g.21841123A=CA1158133631HSPG2c.9491T= (p.Met3164=)
c.9494T= (p.Met3165=)
c.10037T= (p.Met3346=)
c.9989T= (p.Met3330=)
c.9968T= (p.Met3323=)
c.10040T= (p.Met3347=)
c.9761T= (p.Met3254=)
c.9545T= (p.Met3182=)
c.9686T= (p.Met3229=)
c.9635T= (p.Met3212=)
c.9632T= (p.Met3211=)
1g.21841123A>CCA338914010HSPG2c.9491T>G (p.Met3164Arg)
c.9494T>G (p.Met3165Arg)
c.10037T>G (p.Met3346Arg)
c.9989T>G (p.Met3330Arg)
c.9968T>G (p.Met3323Arg)
c.10040T>G (p.Met3347Arg)
c.9761T>G (p.Met3254Arg)
c.9545T>G (p.Met3182Arg)
c.9686T>G (p.Met3229Arg)
c.9635T>G (p.Met3212Arg)
c.9632T>G (p.Met3211Arg)
1g.21841123A>GCA338914011HSPG2c.9491T>C (p.Met3164Thr)
c.9494T>C (p.Met3165Thr)
c.10037T>C (p.Met3346Thr)
c.9989T>C (p.Met3330Thr)
c.9968T>C (p.Met3323Thr)
c.10040T>C (p.Met3347Thr)
c.9761T>C (p.Met3254Thr)
c.9545T>C (p.Met3182Thr)
c.9686T>C (p.Met3229Thr)
c.9635T>C (p.Met3212Thr)
c.9632T>C (p.Met3211Thr)
1g.21841123A>TCA338914012HSPG2c.9491T>A (p.Met3164Lys)
c.9494T>A (p.Met3165Lys)
c.10037T>A (p.Met3346Lys)
c.9989T>A (p.Met3330Lys)
c.9968T>A (p.Met3323Lys)
c.10040T>A (p.Met3347Lys)
c.9761T>A (p.Met3254Lys)
c.9545T>A (p.Met3182Lys)
c.9686T>A (p.Met3229Lys)
c.9635T>A (p.Met3212Lys)
c.9632T>A (p.Met3211Lys)
dbSNP gnomAD v3 gnomAD v4
1g.21841124T>ACA338914013HSPG2c.9490A>T (p.Met3164Leu)
c.9493A>T (p.Met3165Leu)
c.10036A>T (p.Met3346Leu)
c.9988A>T (p.Met3330Leu)
c.9967A>T (p.Met3323Leu)
c.10039A>T (p.Met3347Leu)
c.9760A>T (p.Met3254Leu)
c.9544A>T (p.Met3182Leu)
c.9685A>T (p.Met3229Leu)
c.9634A>T (p.Met3212Leu)
c.9631A>T (p.Met3211Leu)
gnomAD v4
1g.21841124T>CCA338914014HSPG2c.9490A>G (p.Met3164Val)
c.9493A>G (p.Met3165Val)
c.10036A>G (p.Met3346Val)
c.9988A>G (p.Met3330Val)
c.9967A>G (p.Met3323Val)
c.10039A>G (p.Met3347Val)
c.9760A>G (p.Met3254Val)
c.9544A>G (p.Met3182Val)
c.9685A>G (p.Met3229Val)
c.9634A>G (p.Met3212Val)
c.9631A>G (p.Met3211Val)
dbSNP gnomAD v4
1g.21841124T>GCA338914015HSPG2c.9490A>C (p.Met3164Leu)
c.9493A>C (p.Met3165Leu)
c.10036A>C (p.Met3346Leu)
c.9988A>C (p.Met3330Leu)
c.9967A>C (p.Met3323Leu)
c.10039A>C (p.Met3347Leu)
c.9760A>C (p.Met3254Leu)
c.9544A>C (p.Met3182Leu)
c.9685A>C (p.Met3229Leu)
c.9634A>C (p.Met3212Leu)
c.9631A>C (p.Met3211Leu)
1g.21841124T=CA1158133632HSPG2c.9490A= (p.Met3164=)
c.9493A= (p.Met3165=)
c.10036A= (p.Met3346=)
c.9988A= (p.Met3330=)
c.9967A= (p.Met3323=)
c.10039A= (p.Met3347=)
c.9760A= (p.Met3254=)
c.9544A= (p.Met3182=)
c.9685A= (p.Met3229=)
c.9634A= (p.Met3212=)
c.9631A= (p.Met3211=)
1g.21841125G>ACA416547316HSPG2c.9489C>T (p.Leu3163=)
c.9492C>T (p.Leu3164=)
c.10035C>T (p.Leu3345=)
c.9987C>T (p.Leu3329=)
c.9966C>T (p.Leu3322=)
c.10038C>T (p.Leu3346=)
c.9759C>T (p.Leu3253=)
c.9543C>T (p.Leu3181=)
c.9684C>T (p.Leu3228=)
c.9633C>T (p.Leu3211=)
c.9630C>T (p.Leu3210=)
1g.21841125G>CCA416547318HSPG2c.9489C>G (p.Leu3163=)
c.9492C>G (p.Leu3164=)
c.10035C>G (p.Leu3345=)
c.9987C>G (p.Leu3329=)
c.9966C>G (p.Leu3322=)
c.10038C>G (p.Leu3346=)
c.9759C>G (p.Leu3253=)
c.9543C>G (p.Leu3181=)
c.9684C>G (p.Leu3228=)
c.9633C>G (p.Leu3211=)
c.9630C>G (p.Leu3210=)
dbSNP
1g.21841125G>TCA416547317HSPG2c.9489C>A (p.Leu3163=)
c.9492C>A (p.Leu3164=)
c.10035C>A (p.Leu3345=)
c.9987C>A (p.Leu3329=)
c.9966C>A (p.Leu3322=)
c.10038C>A (p.Leu3346=)
c.9759C>A (p.Leu3253=)
c.9543C>A (p.Leu3181=)
c.9684C>A (p.Leu3228=)
c.9633C>A (p.Leu3211=)
c.9630C>A (p.Leu3210=)
1g.21841126A>CCA338914016HSPG2c.9488T>G (p.Leu3163Arg)
c.9491T>G (p.Leu3164Arg)
c.10034T>G (p.Leu3345Arg)
c.9986T>G (p.Leu3329Arg)
c.9965T>G (p.Leu3322Arg)
c.10037T>G (p.Leu3346Arg)
c.9758T>G (p.Leu3253Arg)
c.9542T>G (p.Leu3181Arg)
c.9683T>G (p.Leu3228Arg)
c.9632T>G (p.Leu3211Arg)
c.9629T>G (p.Leu3210Arg)
1g.21841126A>GCA338914017HSPG2c.9488T>C (p.Leu3163Pro)
c.9491T>C (p.Leu3164Pro)
c.10034T>C (p.Leu3345Pro)
c.9986T>C (p.Leu3329Pro)
c.9965T>C (p.Leu3322Pro)
c.10037T>C (p.Leu3346Pro)
c.9758T>C (p.Leu3253Pro)
c.9542T>C (p.Leu3181Pro)
c.9683T>C (p.Leu3228Pro)
c.9632T>C (p.Leu3211Pro)
c.9629T>C (p.Leu3210Pro)
1g.21841126A>TCA338914018HSPG2c.9488T>A (p.Leu3163His)
c.9491T>A (p.Leu3164His)
c.10034T>A (p.Leu3345His)
c.9986T>A (p.Leu3329His)
c.9965T>A (p.Leu3322His)
c.10037T>A (p.Leu3346His)
c.9758T>A (p.Leu3253His)
c.9542T>A (p.Leu3181His)
c.9683T>A (p.Leu3228His)
c.9632T>A (p.Leu3211His)
c.9629T>A (p.Leu3210His)
1g.21841127G>ACA670432HSPG2c.9487C>T (p.Leu3163Phe)
c.9490C>T (p.Leu3164Phe)
c.10033C>T (p.Leu3345Phe)
c.9985C>T (p.Leu3329Phe)
c.9964C>T (p.Leu3322Phe)
c.10036C>T (p.Leu3346Phe)
c.9757C>T (p.Leu3253Phe)
c.9541C>T (p.Leu3181Phe)
c.9682C>T (p.Leu3228Phe)
c.9631C>T (p.Leu3211Phe)
c.9628C>T (p.Leu3210Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21841127G>CCA338914020HSPG2c.9487C>G (p.Leu3163Val)
c.9490C>G (p.Leu3164Val)
c.10033C>G (p.Leu3345Val)
c.9985C>G (p.Leu3329Val)
c.9964C>G (p.Leu3322Val)
c.10036C>G (p.Leu3346Val)
c.9757C>G (p.Leu3253Val)
c.9541C>G (p.Leu3181Val)
c.9682C>G (p.Leu3228Val)
c.9631C>G (p.Leu3211Val)
c.9628C>G (p.Leu3210Val)
1g.21841127G=CA1158133633HSPG2c.9487C= (p.Leu3163=)
c.9490C= (p.Leu3164=)
c.10033C= (p.Leu3345=)
c.9985C= (p.Leu3329=)
c.9964C= (p.Leu3322=)
c.10036C= (p.Leu3346=)
c.9757C= (p.Leu3253=)
c.9541C= (p.Leu3181=)
c.9682C= (p.Leu3228=)
c.9631C= (p.Leu3211=)
c.9628C= (p.Leu3210=)
1g.21841127G>TCA338914019HSPG2c.9487C>A (p.Leu3163Ile)
c.9490C>A (p.Leu3164Ile)
c.10033C>A (p.Leu3345Ile)
c.9985C>A (p.Leu3329Ile)
c.9964C>A (p.Leu3322Ile)
c.10036C>A (p.Leu3346Ile)
c.9757C>A (p.Leu3253Ile)
c.9541C>A (p.Leu3181Ile)
c.9682C>A (p.Leu3228Ile)
c.9631C>A (p.Leu3211Ile)
c.9628C>A (p.Leu3210Ile)
1g.21841128C>ACA416547319HSPG2c.9486G>T (p.Gly3162=)
c.9489G>T (p.Gly3163=)
c.10032G>T (p.Gly3344=)
c.9984G>T (p.Gly3328=)
c.9963G>T (p.Gly3321=)
c.10035G>T (p.Gly3345=)
c.9756G>T (p.Gly3252=)
c.9540G>T (p.Gly3180=)
c.9681G>T (p.Gly3227=)
c.9630G>T (p.Gly3210=)
c.9627G>T (p.Gly3209=)
dbSNP
1g.21841128C=CA1158133634HSPG2c.9486G= (p.Gly3162=)
c.9489G= (p.Gly3163=)
c.10032G= (p.Gly3344=)
c.9984G= (p.Gly3328=)
c.9963G= (p.Gly3321=)
c.10035G= (p.Gly3345=)
c.9756G= (p.Gly3252=)
c.9540G= (p.Gly3180=)
c.9681G= (p.Gly3227=)
c.9630G= (p.Gly3210=)
c.9627G= (p.Gly3209=)
1g.21841128C>GCA416547321HSPG2c.9486G>C (p.Gly3162=)
c.9489G>C (p.Gly3163=)
c.10032G>C (p.Gly3344=)
c.9984G>C (p.Gly3328=)
c.9963G>C (p.Gly3321=)
c.10035G>C (p.Gly3345=)
c.9756G>C (p.Gly3252=)
c.9540G>C (p.Gly3180=)
c.9681G>C (p.Gly3227=)
c.9630G>C (p.Gly3210=)
c.9627G>C (p.Gly3209=)
1g.21841128C>TCA416547320HSPG2c.9486G>A (p.Gly3162=)
c.9489G>A (p.Gly3163=)
c.10032G>A (p.Gly3344=)
c.9984G>A (p.Gly3328=)
c.9963G>A (p.Gly3321=)
c.10035G>A (p.Gly3345=)
c.9756G>A (p.Gly3252=)
c.9540G>A (p.Gly3180=)
c.9681G>A (p.Gly3227=)
c.9630G>A (p.Gly3210=)
c.9627G>A (p.Gly3209=)
1g.21841129C>ACA338914021HSPG2c.9485G>T (p.Gly3162Val)
c.9488G>T (p.Gly3163Val)
c.10031G>T (p.Gly3344Val)
c.9983G>T (p.Gly3328Val)
c.9962G>T (p.Gly3321Val)
c.10034G>T (p.Gly3345Val)
c.9755G>T (p.Gly3252Val)
c.9539G>T (p.Gly3180Val)
c.9680G>T (p.Gly3227Val)
c.9629G>T (p.Gly3210Val)
c.9626G>T (p.Gly3209Val)
1g.21841129C>GCA338914022HSPG2c.9485G>C (p.Gly3162Ala)
c.9488G>C (p.Gly3163Ala)
c.10031G>C (p.Gly3344Ala)
c.9983G>C (p.Gly3328Ala)
c.9962G>C (p.Gly3321Ala)
c.10034G>C (p.Gly3345Ala)
c.9755G>C (p.Gly3252Ala)
c.9539G>C (p.Gly3180Ala)
c.9680G>C (p.Gly3227Ala)
c.9629G>C (p.Gly3210Ala)
c.9626G>C (p.Gly3209Ala)
1g.21841129C>TCA338914023HSPG2c.9485G>A (p.Gly3162Glu)
c.9488G>A (p.Gly3163Glu)
c.10031G>A (p.Gly3344Glu)
c.9983G>A (p.Gly3328Glu)
c.9962G>A (p.Gly3321Glu)
c.10034G>A (p.Gly3345Glu)
c.9755G>A (p.Gly3252Glu)
c.9539G>A (p.Gly3180Glu)
c.9680G>A (p.Gly3227Glu)
c.9629G>A (p.Gly3210Glu)
c.9626G>A (p.Gly3209Glu)
1g.21841130C>ACA338914024HSPG2c.9484G>T (p.Gly3162Trp)
c.9487G>T (p.Gly3163Trp)
c.10030G>T (p.Gly3344Trp)
c.9982G>T (p.Gly3328Trp)
c.9961G>T (p.Gly3321Trp)
c.10033G>T (p.Gly3345Trp)
c.9754G>T (p.Gly3252Trp)
c.9538G>T (p.Gly3180Trp)
c.9679G>T (p.Gly3227Trp)
c.9628G>T (p.Gly3210Trp)
c.9625G>T (p.Gly3209Trp)
1g.21841130C=CA1158133635HSPG2c.9484G= (p.Gly3162=)
c.9487G= (p.Gly3163=)
c.10030G= (p.Gly3344=)
c.9982G= (p.Gly3328=)
c.9961G= (p.Gly3321=)
c.10033G= (p.Gly3345=)
c.9754G= (p.Gly3252=)
c.9538G= (p.Gly3180=)
c.9679G= (p.Gly3227=)
c.9628G= (p.Gly3210=)
c.9625G= (p.Gly3209=)
1g.21841130C>GCA338914025HSPG2c.9484G>C (p.Gly3162Arg)
c.9487G>C (p.Gly3163Arg)
c.10030G>C (p.Gly3344Arg)
c.9982G>C (p.Gly3328Arg)
c.9961G>C (p.Gly3321Arg)
c.10033G>C (p.Gly3345Arg)
c.9754G>C (p.Gly3252Arg)
c.9538G>C (p.Gly3180Arg)
c.9679G>C (p.Gly3227Arg)
c.9628G>C (p.Gly3210Arg)
c.9625G>C (p.Gly3209Arg)
dbSNP gnomAD v2 gnomAD v4
1g.21841130C>TCA338914026HSPG2c.9484G>A (p.Gly3162Arg)
c.9487G>A (p.Gly3163Arg)
c.10030G>A (p.Gly3344Arg)
c.9982G>A (p.Gly3328Arg)
c.9961G>A (p.Gly3321Arg)
c.10033G>A (p.Gly3345Arg)
c.9754G>A (p.Gly3252Arg)
c.9538G>A (p.Gly3180Arg)
c.9679G>A (p.Gly3227Arg)
c.9628G>A (p.Gly3210Arg)
c.9625G>A (p.Gly3209Arg)
dbSNP gnomAD v2 gnomAD v4
1g.21841131A=CA1158133636HSPG2c.9483T= (p.Tyr3161=)
c.9486T= (p.Tyr3162=)
c.10029T= (p.Tyr3343=)
c.9981T= (p.Tyr3327=)
c.9960T= (p.Tyr3320=)
c.10032T= (p.Tyr3344=)
c.9753T= (p.Tyr3251=)
c.9537T= (p.Tyr3179=)
c.9678T= (p.Tyr3226=)
c.9627T= (p.Tyr3209=)
c.9624T= (p.Tyr3208=)
1g.21841131A>CCA338914028HSPG2c.9483T>G (p.Tyr3161Ter)
c.9486T>G (p.Tyr3162Ter)
c.10029T>G (p.Tyr3343Ter)
c.9981T>G (p.Tyr3327Ter)
c.9960T>G (p.Tyr3320Ter)
c.10032T>G (p.Tyr3344Ter)
c.9753T>G (p.Tyr3251Ter)
c.9537T>G (p.Tyr3179Ter)
c.9678T>G (p.Tyr3226Ter)
c.9627T>G (p.Tyr3209Ter)
c.9624T>G (p.Tyr3208Ter)
1g.21841131A>GCA416547325HSPG2c.9483T>C (p.Tyr3161=)
c.9486T>C (p.Tyr3162=)
c.10029T>C (p.Tyr3343=)
c.9981T>C (p.Tyr3327=)
c.9960T>C (p.Tyr3320=)
c.10032T>C (p.Tyr3344=)
c.9753T>C (p.Tyr3251=)
c.9537T>C (p.Tyr3179=)
c.9678T>C (p.Tyr3226=)
c.9627T>C (p.Tyr3209=)
c.9624T>C (p.Tyr3208=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21841131A>TCA338914027HSPG2c.9483T>A (p.Tyr3161Ter)
c.9486T>A (p.Tyr3162Ter)
c.10029T>A (p.Tyr3343Ter)
c.9981T>A (p.Tyr3327Ter)
c.9960T>A (p.Tyr3320Ter)
c.10032T>A (p.Tyr3344Ter)
c.9753T>A (p.Tyr3251Ter)
c.9537T>A (p.Tyr3179Ter)
c.9678T>A (p.Tyr3226Ter)
c.9627T>A (p.Tyr3209Ter)
c.9624T>A (p.Tyr3208Ter)
1g.21841132T>ACA338914029HSPG2c.9482A>T (p.Tyr3161Phe)
c.9485A>T (p.Tyr3162Phe)
c.10028A>T (p.Tyr3343Phe)
c.9980A>T (p.Tyr3327Phe)
c.9959A>T (p.Tyr3320Phe)
c.10031A>T (p.Tyr3344Phe)
c.9752A>T (p.Tyr3251Phe)
c.9536A>T (p.Tyr3179Phe)
c.9677A>T (p.Tyr3226Phe)
c.9626A>T (p.Tyr3209Phe)
c.9623A>T (p.Tyr3208Phe)
1g.21841132T>CCA338914030HSPG2c.9482A>G (p.Tyr3161Cys)
c.9485A>G (p.Tyr3162Cys)
c.10028A>G (p.Tyr3343Cys)
c.9980A>G (p.Tyr3327Cys)
c.9959A>G (p.Tyr3320Cys)
c.10031A>G (p.Tyr3344Cys)
c.9752A>G (p.Tyr3251Cys)
c.9536A>G (p.Tyr3179Cys)
c.9677A>G (p.Tyr3226Cys)
c.9626A>G (p.Tyr3209Cys)
c.9623A>G (p.Tyr3208Cys)
1g.21841132T>GCA338914031HSPG2c.9482A>C (p.Tyr3161Ser)
c.9485A>C (p.Tyr3162Ser)
c.10028A>C (p.Tyr3343Ser)
c.9980A>C (p.Tyr3327Ser)
c.9959A>C (p.Tyr3320Ser)
c.10031A>C (p.Tyr3344Ser)
c.9752A>C (p.Tyr3251Ser)
c.9536A>C (p.Tyr3179Ser)
c.9677A>C (p.Tyr3226Ser)
c.9626A>C (p.Tyr3209Ser)
c.9623A>C (p.Tyr3208Ser)
1g.21841133A>CCA338914032HSPG2c.9481T>G (p.Tyr3161Asp)
c.9484T>G (p.Tyr3162Asp)
c.10027T>G (p.Tyr3343Asp)
c.9979T>G (p.Tyr3327Asp)
c.9958T>G (p.Tyr3320Asp)
c.10030T>G (p.Tyr3344Asp)
c.9751T>G (p.Tyr3251Asp)
c.9535T>G (p.Tyr3179Asp)
c.9676T>G (p.Tyr3226Asp)
c.9625T>G (p.Tyr3209Asp)
c.9622T>G (p.Tyr3208Asp)
1g.21841133A>GCA338914033HSPG2c.9481T>C (p.Tyr3161His)
c.9484T>C (p.Tyr3162His)
c.10027T>C (p.Tyr3343His)
c.9979T>C (p.Tyr3327His)
c.9958T>C (p.Tyr3320His)
c.10030T>C (p.Tyr3344His)
c.9751T>C (p.Tyr3251His)
c.9535T>C (p.Tyr3179His)
c.9676T>C (p.Tyr3226His)
c.9625T>C (p.Tyr3209His)
c.9622T>C (p.Tyr3208His)
1g.21841133A>TCA338914034HSPG2c.9481T>A (p.Tyr3161Asn)
c.9484T>A (p.Tyr3162Asn)
c.10027T>A (p.Tyr3343Asn)
c.9979T>A (p.Tyr3327Asn)
c.9958T>A (p.Tyr3320Asn)
c.10030T>A (p.Tyr3344Asn)
c.9751T>A (p.Tyr3251Asn)
c.9535T>A (p.Tyr3179Asn)
c.9676T>A (p.Tyr3226Asn)
c.9625T>A (p.Tyr3209Asn)
c.9622T>A (p.Tyr3208Asn)
1g.21841134T>ACA416547330HSPG2c.9480A>T (p.Thr3160=)
c.9483A>T (p.Thr3161=)
c.10026A>T (p.Thr3342=)
c.9978A>T (p.Thr3326=)
c.9957A>T (p.Thr3319=)
c.10029A>T (p.Thr3343=)
c.9750A>T (p.Thr3250=)
c.9534A>T (p.Thr3178=)
c.9675A>T (p.Thr3225=)
c.9624A>T (p.Thr3208=)
c.9621A>T (p.Thr3207=)
dbSNP
1g.21841134T>CCA416547329HSPG2c.9480A>G (p.Thr3160=)
c.9483A>G (p.Thr3161=)
c.10026A>G (p.Thr3342=)
c.9978A>G (p.Thr3326=)
c.9957A>G (p.Thr3319=)
c.10029A>G (p.Thr3343=)
c.9750A>G (p.Thr3250=)
c.9534A>G (p.Thr3178=)
c.9675A>G (p.Thr3225=)
c.9624A>G (p.Thr3208=)
c.9621A>G (p.Thr3207=)
dbSNP gnomAD v2
1g.21841134T>GCA416547331HSPG2c.9480A>C (p.Thr3160=)
c.9483A>C (p.Thr3161=)
c.10026A>C (p.Thr3342=)
c.9978A>C (p.Thr3326=)
c.9957A>C (p.Thr3319=)
c.10029A>C (p.Thr3343=)
c.9750A>C (p.Thr3250=)
c.9534A>C (p.Thr3178=)
c.9675A>C (p.Thr3225=)
c.9624A>C (p.Thr3208=)
c.9621A>C (p.Thr3207=)
1g.21841134T=CA1158133637HSPG2c.9480A= (p.Thr3160=)
c.9483A= (p.Thr3161=)
c.10026A= (p.Thr3342=)
c.9978A= (p.Thr3326=)
c.9957A= (p.Thr3319=)
c.10029A= (p.Thr3343=)
c.9750A= (p.Thr3250=)
c.9534A= (p.Thr3178=)
c.9675A= (p.Thr3225=)
c.9624A= (p.Thr3208=)
c.9621A= (p.Thr3207=)
1g.21841135G>ACA338914035HSPG2c.9479C>T (p.Thr3160Ile)
c.9482C>T (p.Thr3161Ile)
c.10025C>T (p.Thr3342Ile)
c.9977C>T (p.Thr3326Ile)
c.9956C>T (p.Thr3319Ile)
c.10028C>T (p.Thr3343Ile)
c.9749C>T (p.Thr3250Ile)
c.9533C>T (p.Thr3178Ile)
c.9674C>T (p.Thr3225Ile)
c.9623C>T (p.Thr3208Ile)
c.9620C>T (p.Thr3207Ile)
dbSNP gnomAD v3 gnomAD v4
1g.21841135G>CCA670433HSPG2c.9479C>G (p.Thr3160Arg)
c.9482C>G (p.Thr3161Arg)
c.10025C>G (p.Thr3342Arg)
c.9977C>G (p.Thr3326Arg)
c.9956C>G (p.Thr3319Arg)
c.10028C>G (p.Thr3343Arg)
c.9749C>G (p.Thr3250Arg)
c.9533C>G (p.Thr3178Arg)
c.9674C>G (p.Thr3225Arg)
c.9623C>G (p.Thr3208Arg)
c.9620C>G (p.Thr3207Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21841135G=CA1144138516HSPG2c.9479C= (p.Thr3160=)
c.9482C= (p.Thr3161=)
c.10025C= (p.Thr3342=)
c.9977C= (p.Thr3326=)
c.9956C= (p.Thr3319=)
c.10028C= (p.Thr3343=)
c.9749C= (p.Thr3250=)
c.9533C= (p.Thr3178=)
c.9674C= (p.Thr3225=)
c.9623C= (p.Thr3208=)
c.9620C= (p.Thr3207=)
1g.21841135G>TCA338914036HSPG2c.9479C>A (p.Thr3160Lys)
c.9482C>A (p.Thr3161Lys)
c.10025C>A (p.Thr3342Lys)
c.9977C>A (p.Thr3326Lys)
c.9956C>A (p.Thr3319Lys)
c.10028C>A (p.Thr3343Lys)
c.9749C>A (p.Thr3250Lys)
c.9533C>A (p.Thr3178Lys)
c.9674C>A (p.Thr3225Lys)
c.9623C>A (p.Thr3208Lys)
c.9620C>A (p.Thr3207Lys)
1g.21841136T>ACA338914037HSPG2c.9478A>T (p.Thr3160Ser)
c.9481A>T (p.Thr3161Ser)
c.10024A>T (p.Thr3342Ser)
c.9976A>T (p.Thr3326Ser)
c.9955A>T (p.Thr3319Ser)
c.10027A>T (p.Thr3343Ser)
c.9748A>T (p.Thr3250Ser)
c.9532A>T (p.Thr3178Ser)
c.9673A>T (p.Thr3225Ser)
c.9622A>T (p.Thr3208Ser)
c.9619A>T (p.Thr3207Ser)
1g.21841136T>CCA670434HSPG2c.9478A>G (p.Thr3160Ala)
c.9481A>G (p.Thr3161Ala)
c.10024A>G (p.Thr3342Ala)
c.9976A>G (p.Thr3326Ala)
c.9955A>G (p.Thr3319Ala)
c.10027A>G (p.Thr3343Ala)
c.9748A>G (p.Thr3250Ala)
c.9532A>G (p.Thr3178Ala)
c.9673A>G (p.Thr3225Ala)
c.9622A>G (p.Thr3208Ala)
c.9619A>G (p.Thr3207Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.21841136T>GCA338914038HSPG2c.9478A>C (p.Thr3160Pro)
c.9481A>C (p.Thr3161Pro)
c.10024A>C (p.Thr3342Pro)
c.9976A>C (p.Thr3326Pro)
c.9955A>C (p.Thr3319Pro)
c.10027A>C (p.Thr3343Pro)
c.9748A>C (p.Thr3250Pro)
c.9532A>C (p.Thr3178Pro)
c.9673A>C (p.Thr3225Pro)
c.9622A>C (p.Thr3208Pro)
c.9619A>C (p.Thr3207Pro)
1g.21841136T=CA1158133638HSPG2c.9478A= (p.Thr3160=)
c.9481A= (p.Thr3161=)
c.10024A= (p.Thr3342=)
c.9976A= (p.Thr3326=)
c.9955A= (p.Thr3319=)
c.10027A= (p.Thr3343=)
c.9748A= (p.Thr3250=)
c.9532A= (p.Thr3178=)
c.9673A= (p.Thr3225=)
c.9622A= (p.Thr3208=)
c.9619A= (p.Thr3207=)
1g.21841137C>ACA416547335HSPG2c.9477G>T (p.Arg3159=)
c.9480G>T (p.Arg3160=)
c.10023G>T (p.Arg3341=)
c.9975G>T (p.Arg3325=)
c.9954G>T (p.Arg3318=)
c.10026G>T (p.Arg3342=)
c.9747G>T (p.Arg3249=)
c.9531G>T (p.Arg3177=)
c.9672G>T (p.Arg3224=)
c.9621G>T (p.Arg3207=)
c.9618G>T (p.Arg3206=)
1g.21841137C=CA1158133639HSPG2c.9477G= (p.Arg3159=)
c.9480G= (p.Arg3160=)
c.10023G= (p.Arg3341=)
c.9975G= (p.Arg3325=)
c.9954G= (p.Arg3318=)
c.10026G= (p.Arg3342=)
c.9747G= (p.Arg3249=)
c.9531G= (p.Arg3177=)
c.9672G= (p.Arg3224=)
c.9621G= (p.Arg3207=)
c.9618G= (p.Arg3206=)
1g.21841137C>GCA416547336HSPG2c.9477G>C (p.Arg3159=)
c.9480G>C (p.Arg3160=)
c.10023G>C (p.Arg3341=)
c.9975G>C (p.Arg3325=)
c.9954G>C (p.Arg3318=)
c.10026G>C (p.Arg3342=)
c.9747G>C (p.Arg3249=)
c.9531G>C (p.Arg3177=)
c.9672G>C (p.Arg3224=)
c.9621G>C (p.Arg3207=)
c.9618G>C (p.Arg3206=)
1g.21841137C>TCA416547337HSPG2c.9477G>A (p.Arg3159=)
c.9480G>A (p.Arg3160=)
c.10023G>A (p.Arg3341=)
c.9975G>A (p.Arg3325=)
c.9954G>A (p.Arg3318=)
c.10026G>A (p.Arg3342=)
c.9747G>A (p.Arg3249=)
c.9531G>A (p.Arg3177=)
c.9672G>A (p.Arg3224=)
c.9621G>A (p.Arg3207=)
c.9618G>A (p.Arg3206=)
dbSNP gnomAD v2
1g.21841138C>ACA338914039HSPG2c.9476G>T (p.Arg3159Leu)
c.9479G>T (p.Arg3160Leu)
c.10022G>T (p.Arg3341Leu)
c.9974G>T (p.Arg3325Leu)
c.9953G>T (p.Arg3318Leu)
c.10025G>T (p.Arg3342Leu)
c.9746G>T (p.Arg3249Leu)
c.9530G>T (p.Arg3177Leu)
c.9671G>T (p.Arg3224Leu)
c.9620G>T (p.Arg3207Leu)
c.9617G>T (p.Arg3206Leu)
1g.21841138C=CA1141751328HSPG2c.9476G= (p.Arg3159=)
c.9479G= (p.Arg3160=)
c.10022G= (p.Arg3341=)
c.9974G= (p.Arg3325=)
c.9953G= (p.Arg3318=)
c.10025G= (p.Arg3342=)
c.9746G= (p.Arg3249=)
c.9530G= (p.Arg3177=)
c.9671G= (p.Arg3224=)
c.9620G= (p.Arg3207=)
c.9617G= (p.Arg3206=)
1g.21841138C>GCA338914040HSPG2c.9476G>C (p.Arg3159Pro)
c.9479G>C (p.Arg3160Pro)
c.10022G>C (p.Arg3341Pro)
c.9974G>C (p.Arg3325Pro)
c.9953G>C (p.Arg3318Pro)
c.10025G>C (p.Arg3342Pro)
c.9746G>C (p.Arg3249Pro)
c.9530G>C (p.Arg3177Pro)
c.9671G>C (p.Arg3224Pro)
c.9620G>C (p.Arg3207Pro)
c.9617G>C (p.Arg3206Pro)
dbSNP gnomAD v3 gnomAD v4
1g.21841138C>TCA670435HSPG2c.9476G>A (p.Arg3159Gln)
c.9479G>A (p.Arg3160Gln)
c.10022G>A (p.Arg3341Gln)
c.9974G>A (p.Arg3325Gln)
c.9953G>A (p.Arg3318Gln)
c.10025G>A (p.Arg3342Gln)
c.9746G>A (p.Arg3249Gln)
c.9530G>A (p.Arg3177Gln)
c.9671G>A (p.Arg3224Gln)
c.9620G>A (p.Arg3207Gln)
c.9617G>A (p.Arg3206Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21841139G>ACA670436HSPG2c.9475C>T (p.Arg3159Trp)
c.9478C>T (p.Arg3160Trp)
c.10021C>T (p.Arg3341Trp)
c.9973C>T (p.Arg3325Trp)
c.9952C>T (p.Arg3318Trp)
c.10024C>T (p.Arg3342Trp)
c.9745C>T (p.Arg3249Trp)
c.9529C>T (p.Arg3177Trp)
c.9670C>T (p.Arg3224Trp)
c.9619C>T (p.Arg3207Trp)
c.9616C>T (p.Arg3206Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.21841139G>CCA338914041HSPG2c.9475C>G (p.Arg3159Gly)
c.9478C>G (p.Arg3160Gly)
c.10021C>G (p.Arg3341Gly)
c.9973C>G (p.Arg3325Gly)
c.9952C>G (p.Arg3318Gly)
c.10024C>G (p.Arg3342Gly)
c.9745C>G (p.Arg3249Gly)
c.9529C>G (p.Arg3177Gly)
c.9670C>G (p.Arg3224Gly)
c.9619C>G (p.Arg3207Gly)
c.9616C>G (p.Arg3206Gly)
1g.21841139G=CA1158133640HSPG2c.9475C= (p.Arg3159=)
c.9478C= (p.Arg3160=)
c.10021C= (p.Arg3341=)
c.9973C= (p.Arg3325=)
c.9952C= (p.Arg3318=)
c.10024C= (p.Arg3342=)
c.9745C= (p.Arg3249=)
c.9529C= (p.Arg3177=)
c.9670C= (p.Arg3224=)
c.9619C= (p.Arg3207=)
c.9616C= (p.Arg3206=)
1g.21841139G>TCA416547338HSPG2c.9475C>A (p.Arg3159=)
c.9478C>A (p.Arg3160=)
c.10021C>A (p.Arg3341=)
c.9973C>A (p.Arg3325=)
c.9952C>A (p.Arg3318=)
c.10024C>A (p.Arg3342=)
c.9745C>A (p.Arg3249=)
c.9529C>A (p.Arg3177=)
c.9670C>A (p.Arg3224=)
c.9619C>A (p.Arg3207=)
c.9616C>A (p.Arg3206=)
1g.21841142_21841144dupCA2643961770HSPG2c.9473_9475dup (p.Gln3158_Arg3159insGln)
c.9476_9478dup (p.Gln3159_Arg3160insGln)
c.10019_10021dup (p.Gln3340_Arg3341insGln)
c.9971_9973dup (p.Gln3324_Arg3325insGln)
c.9950_9952dup (p.Gln3317_Arg3318insGln)
c.10022_10024dup (p.Gln3341_Arg3342insGln)
c.9743_9745dup (p.Gln3248_Arg3249insGln)
c.9527_9529dup (p.Gln3176_Arg3177insGln)
c.9668_9670dup (p.Gln3223_Arg3224insGln)
c.9617_9619dup (p.Gln3206_Arg3207insGln)
c.9614_9616dup (p.Gln3205_Arg3206insGln)
gnomAD v4
1g.21841140C>ACA338914042HSPG2c.9474G>T (p.Gln3158His)
c.9477G>T (p.Gln3159His)
c.10020G>T (p.Gln3340His)
c.9972G>T (p.Gln3324His)
c.9951G>T (p.Gln3317His)
c.10023G>T (p.Gln3341His)
c.9744G>T (p.Gln3248His)
c.9528G>T (p.Gln3176His)
c.9669G>T (p.Gln3223His)
c.9618G>T (p.Gln3206His)
c.9615G>T (p.Gln3205His)
gnomAD v4
1g.21841140C=CA1158133641HSPG2c.9474G= (p.Gln3158=)
c.9477G= (p.Gln3159=)
c.10020G= (p.Gln3340=)
c.9972G= (p.Gln3324=)
c.9951G= (p.Gln3317=)
c.10023G= (p.Gln3341=)
c.9744G= (p.Gln3248=)
c.9528G= (p.Gln3176=)
c.9669G= (p.Gln3223=)
c.9618G= (p.Gln3206=)
c.9615G= (p.Gln3205=)
1g.21841140C>GCA338914043HSPG2c.9474G>C (p.Gln3158His)
c.9477G>C (p.Gln3159His)
c.10020G>C (p.Gln3340His)
c.9972G>C (p.Gln3324His)
c.9951G>C (p.Gln3317His)
c.10023G>C (p.Gln3341His)
c.9744G>C (p.Gln3248His)
c.9528G>C (p.Gln3176His)
c.9669G>C (p.Gln3223His)
c.9618G>C (p.Gln3206His)
c.9615G>C (p.Gln3205His)
1g.21841140C>TCA670437HSPG2c.9474G>A (p.Gln3158=)
c.9477G>A (p.Gln3159=)
c.10020G>A (p.Gln3340=)
c.9972G>A (p.Gln3324=)
c.9951G>A (p.Gln3317=)
c.10023G>A (p.Gln3341=)
c.9744G>A (p.Gln3248=)
c.9528G>A (p.Gln3176=)
c.9669G>A (p.Gln3223=)
c.9618G>A (p.Gln3206=)
c.9615G>A (p.Gln3205=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21841141T>ACA338914045HSPG2c.9473A>T (p.Gln3158Leu)
c.9476A>T (p.Gln3159Leu)
c.10019A>T (p.Gln3340Leu)
c.9971A>T (p.Gln3324Leu)
c.9950A>T (p.Gln3317Leu)
c.10022A>T (p.Gln3341Leu)
c.9743A>T (p.Gln3248Leu)
c.9527A>T (p.Gln3176Leu)
c.9668A>T (p.Gln3223Leu)
c.9617A>T (p.Gln3206Leu)
c.9614A>T (p.Gln3205Leu)
1g.21841141T>CCA338914046HSPG2c.9473A>G (p.Gln3158Arg)
c.9476A>G (p.Gln3159Arg)
c.10019A>G (p.Gln3340Arg)
c.9971A>G (p.Gln3324Arg)
c.9950A>G (p.Gln3317Arg)
c.10022A>G (p.Gln3341Arg)
c.9743A>G (p.Gln3248Arg)
c.9527A>G (p.Gln3176Arg)
c.9668A>G (p.Gln3223Arg)
c.9617A>G (p.Gln3206Arg)
c.9614A>G (p.Gln3205Arg)
1g.21841141T>GCA338914044HSPG2c.9473A>C (p.Gln3158Pro)
c.9476A>C (p.Gln3159Pro)
c.10019A>C (p.Gln3340Pro)
c.9971A>C (p.Gln3324Pro)
c.9950A>C (p.Gln3317Pro)
c.10022A>C (p.Gln3341Pro)
c.9743A>C (p.Gln3248Pro)
c.9527A>C (p.Gln3176Pro)
c.9668A>C (p.Gln3223Pro)
c.9617A>C (p.Gln3206Pro)
c.9614A>C (p.Gln3205Pro)
1g.21841142G>ACA338914047HSPG2c.9472C>T (p.Gln3158Ter)
c.9475C>T (p.Gln3159Ter)
c.10018C>T (p.Gln3340Ter)
c.9970C>T (p.Gln3324Ter)
c.9949C>T (p.Gln3317Ter)
c.10021C>T (p.Gln3341Ter)
c.9742C>T (p.Gln3248Ter)
c.9526C>T (p.Gln3176Ter)
c.9667C>T (p.Gln3223Ter)
c.9616C>T (p.Gln3206Ter)
c.9613C>T (p.Gln3205Ter)
1g.21841142G>CCA338914048HSPG2c.9472C>G (p.Gln3158Glu)
c.9475C>G (p.Gln3159Glu)
c.10018C>G (p.Gln3340Glu)
c.9970C>G (p.Gln3324Glu)
c.9949C>G (p.Gln3317Glu)
c.10021C>G (p.Gln3341Glu)
c.9742C>G (p.Gln3248Glu)
c.9526C>G (p.Gln3176Glu)
c.9667C>G (p.Gln3223Glu)
c.9616C>G (p.Gln3206Glu)
c.9613C>G (p.Gln3205Glu)
1g.21841142G>TCA338914049HSPG2c.9472C>A (p.Gln3158Lys)
c.9475C>A (p.Gln3159Lys)
c.10018C>A (p.Gln3340Lys)
c.9970C>A (p.Gln3324Lys)
c.9949C>A (p.Gln3317Lys)
c.10021C>A (p.Gln3341Lys)
c.9742C>A (p.Gln3248Lys)
c.9526C>A (p.Gln3176Lys)
c.9667C>A (p.Gln3223Lys)
c.9616C>A (p.Gln3206Lys)
c.9613C>A (p.Gln3205Lys)
1g.21841143C>ACA338914051HSPG2c.9471G>T (p.Glu3157Asp)
c.9474G>T (p.Glu3158Asp)
c.10017G>T (p.Glu3339Asp)
c.9969G>T (p.Glu3323Asp)
c.9948G>T (p.Glu3316Asp)
c.10020G>T (p.Glu3340Asp)
c.9741G>T (p.Glu3247Asp)
c.9525G>T (p.Glu3175Asp)
c.9666G>T (p.Glu3222Asp)
c.9615G>T (p.Glu3205Asp)
c.9612G>T (p.Glu3204Asp)
1g.21841143C=CA1158133642HSPG2c.9471G= (p.Glu3157=)
c.9474G= (p.Glu3158=)
c.10017G= (p.Glu3339=)
c.9969G= (p.Glu3323=)
c.9948G= (p.Glu3316=)
c.10020G= (p.Glu3340=)
c.9741G= (p.Glu3247=)
c.9525G= (p.Glu3175=)
c.9666G= (p.Glu3222=)
c.9615G= (p.Glu3205=)
c.9612G= (p.Glu3204=)
1g.21841143C>GCA338914052HSPG2c.9471G>C (p.Glu3157Asp)
c.9474G>C (p.Glu3158Asp)
c.10017G>C (p.Glu3339Asp)
c.9969G>C (p.Glu3323Asp)
c.9948G>C (p.Glu3316Asp)
c.10020G>C (p.Glu3340Asp)
c.9741G>C (p.Glu3247Asp)
c.9525G>C (p.Glu3175Asp)
c.9666G>C (p.Glu3222Asp)
c.9615G>C (p.Glu3205Asp)
c.9612G>C (p.Glu3204Asp)
1g.21841143C>TCA670438HSPG2c.9471G>A (p.Glu3157=)
c.9474G>A (p.Glu3158=)
c.10017G>A (p.Glu3339=)
c.9969G>A (p.Glu3323=)
c.9948G>A (p.Glu3316=)
c.10020G>A (p.Glu3340=)
c.9741G>A (p.Glu3247=)
c.9525G>A (p.Glu3175=)
c.9666G>A (p.Glu3222=)
c.9615G>A (p.Glu3205=)
c.9612G>A (p.Glu3204=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21841144T>ACA338914055HSPG2c.9470A>T (p.Glu3157Val)
c.9473A>T (p.Glu3158Val)
c.10016A>T (p.Glu3339Val)
c.9968A>T (p.Glu3323Val)
c.9947A>T (p.Glu3316Val)
c.10019A>T (p.Glu3340Val)
c.9740A>T (p.Glu3247Val)
c.9524A>T (p.Glu3175Val)
c.9665A>T (p.Glu3222Val)
c.9614A>T (p.Glu3205Val)
c.9611A>T (p.Glu3204Val)
1g.21841144T>CCA338914053HSPG2c.9470A>G (p.Glu3157Gly)
c.9473A>G (p.Glu3158Gly)
c.10016A>G (p.Glu3339Gly)
c.9968A>G (p.Glu3323Gly)
c.9947A>G (p.Glu3316Gly)
c.10019A>G (p.Glu3340Gly)
c.9740A>G (p.Glu3247Gly)
c.9524A>G (p.Glu3175Gly)
c.9665A>G (p.Glu3222Gly)
c.9614A>G (p.Glu3205Gly)
c.9611A>G (p.Glu3204Gly)
dbSNP
1g.21841144T>GCA338914054HSPG2c.9470A>C (p.Glu3157Ala)
c.9473A>C (p.Glu3158Ala)
c.10016A>C (p.Glu3339Ala)
c.9968A>C (p.Glu3323Ala)
c.9947A>C (p.Glu3316Ala)
c.10019A>C (p.Glu3340Ala)
c.9740A>C (p.Glu3247Ala)
c.9524A>C (p.Glu3175Ala)
c.9665A>C (p.Glu3222Ala)
c.9614A>C (p.Glu3205Ala)
c.9611A>C (p.Glu3204Ala)
1g.21841144T=CA1158133643HSPG2c.9470A= (p.Glu3157=)
c.9473A= (p.Glu3158=)
c.10016A= (p.Glu3339=)
c.9968A= (p.Glu3323=)
c.9947A= (p.Glu3316=)
c.10019A= (p.Glu3340=)
c.9740A= (p.Glu3247=)
c.9524A= (p.Glu3175=)
c.9665A= (p.Glu3222=)
c.9614A= (p.Glu3205=)
c.9611A= (p.Glu3204=)
1g.21841145C>ACA338914056HSPG2c.9469G>T (p.Glu3157Ter)
c.9472G>T (p.Glu3158Ter)
c.10015G>T (p.Glu3339Ter)
c.9967G>T (p.Glu3323Ter)
c.9946G>T (p.Glu3316Ter)
c.10018G>T (p.Glu3340Ter)
c.9739G>T (p.Glu3247Ter)
c.9523G>T (p.Glu3175Ter)
c.9664G>T (p.Glu3222Ter)
c.9613G>T (p.Glu3205Ter)
c.9610G>T (p.Glu3204Ter)
1g.21841145C>GCA338914057HSPG2c.9469G>C (p.Glu3157Gln)
c.9472G>C (p.Glu3158Gln)
c.10015G>C (p.Glu3339Gln)
c.9967G>C (p.Glu3323Gln)
c.9946G>C (p.Glu3316Gln)
c.10018G>C (p.Glu3340Gln)
c.9739G>C (p.Glu3247Gln)
c.9523G>C (p.Glu3175Gln)
c.9664G>C (p.Glu3222Gln)
c.9613G>C (p.Glu3205Gln)
c.9610G>C (p.Glu3204Gln)
gnomAD v4
1g.21841145C>TCA338914058HSPG2c.9469G>A (p.Glu3157Lys)
c.9472G>A (p.Glu3158Lys)
c.10015G>A (p.Glu3339Lys)
c.9967G>A (p.Glu3323Lys)
c.9946G>A (p.Glu3316Lys)
c.10018G>A (p.Glu3340Lys)
c.9739G>A (p.Glu3247Lys)
c.9523G>A (p.Glu3175Lys)
c.9664G>A (p.Glu3222Lys)
c.9613G>A (p.Glu3205Lys)
c.9610G>A (p.Glu3204Lys)
dbSNP
1g.21841146C>ACA338914059HSPG2c.9468G>T (p.Leu3156Phe)
c.9471G>T (p.Leu3157Phe)
c.10014G>T (p.Leu3338Phe)
c.9966G>T (p.Leu3322Phe)
c.9945G>T (p.Leu3315Phe)
c.10017G>T (p.Leu3339Phe)
c.9738G>T (p.Leu3246Phe)
c.9522G>T (p.Leu3174Phe)
c.9663G>T (p.Leu3221Phe)
c.9612G>T (p.Leu3204Phe)
c.9609G>T (p.Leu3203Phe)
1g.21841146C=CA1158133644HSPG2c.9468G= (p.Leu3156=)
c.9471G= (p.Leu3157=)
c.10014G= (p.Leu3338=)
c.9966G= (p.Leu3322=)
c.9945G= (p.Leu3315=)
c.10017G= (p.Leu3339=)
c.9738G= (p.Leu3246=)
c.9522G= (p.Leu3174=)
c.9663G= (p.Leu3221=)
c.9612G= (p.Leu3204=)
c.9609G= (p.Leu3203=)
1g.21841146C>GCA338914060HSPG2c.9468G>C (p.Leu3156Phe)
c.9471G>C (p.Leu3157Phe)
c.10014G>C (p.Leu3338Phe)
c.9966G>C (p.Leu3322Phe)
c.9945G>C (p.Leu3315Phe)
c.10017G>C (p.Leu3339Phe)
c.9738G>C (p.Leu3246Phe)
c.9522G>C (p.Leu3174Phe)
c.9663G>C (p.Leu3221Phe)
c.9612G>C (p.Leu3204Phe)
c.9609G>C (p.Leu3203Phe)
dbSNP gnomAD v2 gnomAD v4
1g.21841146C>TCA416547344HSPG2c.9468G>A (p.Leu3156=)
c.9471G>A (p.Leu3157=)
c.10014G>A (p.Leu3338=)
c.9966G>A (p.Leu3322=)
c.9945G>A (p.Leu3315=)
c.10017G>A (p.Leu3339=)
c.9738G>A (p.Leu3246=)
c.9522G>A (p.Leu3174=)
c.9663G>A (p.Leu3221=)
c.9612G>A (p.Leu3204=)
c.9609G>A (p.Leu3203=)
1g.21841147A>CCA338914063HSPG2c.9467T>G (p.Leu3156Trp)
c.9470T>G (p.Leu3157Trp)
c.10013T>G (p.Leu3338Trp)
c.9965T>G (p.Leu3322Trp)
c.9944T>G (p.Leu3315Trp)
c.10016T>G (p.Leu3339Trp)
c.9737T>G (p.Leu3246Trp)
c.9521T>G (p.Leu3174Trp)
c.9662T>G (p.Leu3221Trp)
c.9611T>G (p.Leu3204Trp)
c.9608T>G (p.Leu3203Trp)
1g.21841147A>GCA338914061HSPG2c.9467T>C (p.Leu3156Ser)
c.9470T>C (p.Leu3157Ser)
c.10013T>C (p.Leu3338Ser)
c.9965T>C (p.Leu3322Ser)
c.9944T>C (p.Leu3315Ser)
c.10016T>C (p.Leu3339Ser)
c.9737T>C (p.Leu3246Ser)
c.9521T>C (p.Leu3174Ser)
c.9662T>C (p.Leu3221Ser)
c.9611T>C (p.Leu3204Ser)
c.9608T>C (p.Leu3203Ser)
1g.21841147A>TCA338914062HSPG2c.9467T>A (p.Leu3156Ter)
c.9470T>A (p.Leu3157Ter)
c.10013T>A (p.Leu3338Ter)
c.9965T>A (p.Leu3322Ter)
c.9944T>A (p.Leu3315Ter)
c.10016T>A (p.Leu3339Ter)
c.9737T>A (p.Leu3246Ter)
c.9521T>A (p.Leu3174Ter)
c.9662T>A (p.Leu3221Ter)
c.9611T>A (p.Leu3204Ter)
c.9608T>A (p.Leu3203Ter)
1g.21841148A>CCA338914064HSPG2c.9466T>G (p.Leu3156Val)
c.9469T>G (p.Leu3157Val)
c.10012T>G (p.Leu3338Val)
c.9964T>G (p.Leu3322Val)
c.9943T>G (p.Leu3315Val)
c.10015T>G (p.Leu3339Val)
c.9736T>G (p.Leu3246Val)
c.9520T>G (p.Leu3174Val)
c.9661T>G (p.Leu3221Val)
c.9610T>G (p.Leu3204Val)
c.9607T>G (p.Leu3203Val)
1g.21841148A>GCA416547345HSPG2c.9466T>C (p.Leu3156=)
c.9469T>C (p.Leu3157=)
c.10012T>C (p.Leu3338=)
c.9964T>C (p.Leu3322=)
c.9943T>C (p.Leu3315=)
c.10015T>C (p.Leu3339=)
c.9736T>C (p.Leu3246=)
c.9520T>C (p.Leu3174=)
c.9661T>C (p.Leu3221=)
c.9610T>C (p.Leu3204=)
c.9607T>C (p.Leu3203=)
gnomAD v4
1g.21841148A>TCA338914065HSPG2c.9466T>A (p.Leu3156Met)
c.9469T>A (p.Leu3157Met)
c.10012T>A (p.Leu3338Met)
c.9964T>A (p.Leu3322Met)
c.9943T>A (p.Leu3315Met)
c.10015T>A (p.Leu3339Met)
c.9736T>A (p.Leu3246Met)
c.9520T>A (p.Leu3174Met)
c.9661T>A (p.Leu3221Met)
c.9610T>A (p.Leu3204Met)
c.9607T>A (p.Leu3203Met)
1g.21841149C>ACA338914066HSPG2c.9465G>T (p.Lys3155Asn)
c.9468G>T (p.Lys3156Asn)
c.10011G>T (p.Lys3337Asn)
c.9963G>T (p.Lys3321Asn)
c.9942G>T (p.Lys3314Asn)
c.10014G>T (p.Lys3338Asn)
c.9735G>T (p.Lys3245Asn)
c.9519G>T (p.Lys3173Asn)
c.9660G>T (p.Lys3220Asn)
c.9609G>T (p.Lys3203Asn)
c.9606G>T (p.Lys3202Asn)
1g.21841149C=CA1158133645HSPG2c.9465G= (p.Lys3155=)
c.9468G= (p.Lys3156=)
c.10011G= (p.Lys3337=)
c.9963G= (p.Lys3321=)
c.9942G= (p.Lys3314=)
c.10014G= (p.Lys3338=)
c.9735G= (p.Lys3245=)
c.9519G= (p.Lys3173=)
c.9660G= (p.Lys3220=)
c.9609G= (p.Lys3203=)
c.9606G= (p.Lys3202=)
1g.21841149C>GCA338914067HSPG2c.9465G>C (p.Lys3155Asn)
c.9468G>C (p.Lys3156Asn)
c.10011G>C (p.Lys3337Asn)
c.9963G>C (p.Lys3321Asn)
c.9942G>C (p.Lys3314Asn)
c.10014G>C (p.Lys3338Asn)
c.9735G>C (p.Lys3245Asn)
c.9519G>C (p.Lys3173Asn)
c.9660G>C (p.Lys3220Asn)
c.9609G>C (p.Lys3203Asn)
c.9606G>C (p.Lys3202Asn)
dbSNP
1g.21841149C>TCA416547349HSPG2c.9465G>A (p.Lys3155=)
c.9468G>A (p.Lys3156=)
c.10011G>A (p.Lys3337=)
c.9963G>A (p.Lys3321=)
c.9942G>A (p.Lys3314=)
c.10014G>A (p.Lys3338=)
c.9735G>A (p.Lys3245=)
c.9519G>A (p.Lys3173=)
c.9660G>A (p.Lys3220=)
c.9609G>A (p.Lys3203=)
c.9606G>A (p.Lys3202=)
1g.21841150T>ACA338914068HSPG2c.9464A>T (p.Lys3155Met)
c.9467A>T (p.Lys3156Met)
c.10010A>T (p.Lys3337Met)
c.9962A>T (p.Lys3321Met)
c.9941A>T (p.Lys3314Met)
c.10013A>T (p.Lys3338Met)
c.9734A>T (p.Lys3245Met)
c.9518A>T (p.Lys3173Met)
c.9659A>T (p.Lys3220Met)
c.9608A>T (p.Lys3203Met)
c.9605A>T (p.Lys3202Met)
1g.21841150T>CCA338914069HSPG2c.9464A>G (p.Lys3155Arg)
c.9467A>G (p.Lys3156Arg)
c.10010A>G (p.Lys3337Arg)
c.9962A>G (p.Lys3321Arg)
c.9941A>G (p.Lys3314Arg)
c.10013A>G (p.Lys3338Arg)
c.9734A>G (p.Lys3245Arg)
c.9518A>G (p.Lys3173Arg)
c.9659A>G (p.Lys3220Arg)
c.9608A>G (p.Lys3203Arg)
c.9605A>G (p.Lys3202Arg)
gnomAD v4
1g.21841150T>GCA338914070HSPG2c.9464A>C (p.Lys3155Thr)
c.9467A>C (p.Lys3156Thr)
c.10010A>C (p.Lys3337Thr)
c.9962A>C (p.Lys3321Thr)
c.9941A>C (p.Lys3314Thr)
c.10013A>C (p.Lys3338Thr)
c.9734A>C (p.Lys3245Thr)
c.9518A>C (p.Lys3173Thr)
c.9659A>C (p.Lys3220Thr)
c.9608A>C (p.Lys3203Thr)
c.9605A>C (p.Lys3202Thr)
1g.21841151T>ACA338914071HSPG2c.9463A>T (p.Lys3155Ter)
c.9466A>T (p.Lys3156Ter)
c.10009A>T (p.Lys3337Ter)
c.9961A>T (p.Lys3321Ter)
c.9940A>T (p.Lys3314Ter)
c.10012A>T (p.Lys3338Ter)
c.9733A>T (p.Lys3245Ter)
c.9517A>T (p.Lys3173Ter)
c.9658A>T (p.Lys3220Ter)
c.9607A>T (p.Lys3203Ter)
c.9604A>T (p.Lys3202Ter)
1g.21841151T>CCA338914072HSPG2c.9463A>G (p.Lys3155Glu)
c.9466A>G (p.Lys3156Glu)
c.10009A>G (p.Lys3337Glu)
c.9961A>G (p.Lys3321Glu)
c.9940A>G (p.Lys3314Glu)
c.10012A>G (p.Lys3338Glu)
c.9733A>G (p.Lys3245Glu)
c.9517A>G (p.Lys3173Glu)
c.9658A>G (p.Lys3220Glu)
c.9607A>G (p.Lys3203Glu)
c.9604A>G (p.Lys3202Glu)
1g.21841151T>GCA338914073HSPG2c.9463A>C (p.Lys3155Gln)
c.9466A>C (p.Lys3156Gln)
c.10009A>C (p.Lys3337Gln)
c.9961A>C (p.Lys3321Gln)
c.9940A>C (p.Lys3314Gln)
c.10012A>C (p.Lys3338Gln)
c.9733A>C (p.Lys3245Gln)
c.9517A>C (p.Lys3173Gln)
c.9658A>C (p.Lys3220Gln)
c.9607A>C (p.Lys3203Gln)
c.9604A>C (p.Lys3202Gln)
1g.21841152G>ACA416547353HSPG2c.9462C>T (p.Ala3154=)
c.9465C>T (p.Ala3155=)
c.10008C>T (p.Ala3336=)
c.9960C>T (p.Ala3320=)
c.9939C>T (p.Ala3313=)
c.10011C>T (p.Ala3337=)
c.9732C>T (p.Ala3244=)
c.9516C>T (p.Ala3172=)
c.9657C>T (p.Ala3219=)
c.9606C>T (p.Ala3202=)
c.9603C>T (p.Ala3201=)
gnomAD v4
1g.21841152G>CCA416547351HSPG2c.9462C>G (p.Ala3154=)
c.9465C>G (p.Ala3155=)
c.10008C>G (p.Ala3336=)
c.9960C>G (p.Ala3320=)
c.9939C>G (p.Ala3313=)
c.10011C>G (p.Ala3337=)
c.9732C>G (p.Ala3244=)
c.9516C>G (p.Ala3172=)
c.9657C>G (p.Ala3219=)
c.9606C>G (p.Ala3202=)
c.9603C>G (p.Ala3201=)
1g.21841152G>TCA416547350HSPG2c.9462C>A (p.Ala3154=)
c.9465C>A (p.Ala3155=)
c.10008C>A (p.Ala3336=)
c.9960C>A (p.Ala3320=)
c.9939C>A (p.Ala3313=)
c.10011C>A (p.Ala3337=)
c.9732C>A (p.Ala3244=)
c.9516C>A (p.Ala3172=)
c.9657C>A (p.Ala3219=)
c.9606C>A (p.Ala3202=)
c.9603C>A (p.Ala3201=)
1g.21841153G>ACA338914074HSPG2c.9461C>T (p.Ala3154Val)
c.9464C>T (p.Ala3155Val)
c.10007C>T (p.Ala3336Val)
c.9959C>T (p.Ala3320Val)
c.9938C>T (p.Ala3313Val)
c.10010C>T (p.Ala3337Val)
c.9731C>T (p.Ala3244Val)
c.9515C>T (p.Ala3172Val)
c.9656C>T (p.Ala3219Val)
c.9605C>T (p.Ala3202Val)
c.9602C>T (p.Ala3201Val)
gnomAD v4
1g.21841153G>CCA338914075HSPG2c.9461C>G (p.Ala3154Gly)
c.9464C>G (p.Ala3155Gly)
c.10007C>G (p.Ala3336Gly)
c.9959C>G (p.Ala3320Gly)
c.9938C>G (p.Ala3313Gly)
c.10010C>G (p.Ala3337Gly)
c.9731C>G (p.Ala3244Gly)
c.9515C>G (p.Ala3172Gly)
c.9656C>G (p.Ala3219Gly)
c.9605C>G (p.Ala3202Gly)
c.9602C>G (p.Ala3201Gly)
1g.21841153G>TCA338914076HSPG2c.9461C>A (p.Ala3154Asp)
c.9464C>A (p.Ala3155Asp)
c.10007C>A (p.Ala3336Asp)
c.9959C>A (p.Ala3320Asp)
c.9938C>A (p.Ala3313Asp)
c.10010C>A (p.Ala3337Asp)
c.9731C>A (p.Ala3244Asp)
c.9515C>A (p.Ala3172Asp)
c.9656C>A (p.Ala3219Asp)
c.9605C>A (p.Ala3202Asp)
c.9602C>A (p.Ala3201Asp)
1g.21841154C>ACA338914079HSPG2c.9460G>T (p.Ala3154Ser)
c.9463G>T (p.Ala3155Ser)
c.10006G>T (p.Ala3336Ser)
c.9958G>T (p.Ala3320Ser)
c.9937G>T (p.Ala3313Ser)
c.10009G>T (p.Ala3337Ser)
c.9730G>T (p.Ala3244Ser)
c.9514G>T (p.Ala3172Ser)
c.9655G>T (p.Ala3219Ser)
c.9604G>T (p.Ala3202Ser)
c.9601G>T (p.Ala3201Ser)
1g.21841154C>GCA338914077HSPG2c.9460G>C (p.Ala3154Pro)
c.9463G>C (p.Ala3155Pro)
c.10006G>C (p.Ala3336Pro)
c.9958G>C (p.Ala3320Pro)
c.9937G>C (p.Ala3313Pro)
c.10009G>C (p.Ala3337Pro)
c.9730G>C (p.Ala3244Pro)
c.9514G>C (p.Ala3172Pro)
c.9655G>C (p.Ala3219Pro)
c.9604G>C (p.Ala3202Pro)
c.9601G>C (p.Ala3201Pro)
1g.21841154C>TCA338914078HSPG2c.9460G>A (p.Ala3154Thr)
c.9463G>A (p.Ala3155Thr)
c.10006G>A (p.Ala3336Thr)
c.9958G>A (p.Ala3320Thr)
c.9937G>A (p.Ala3313Thr)
c.10009G>A (p.Ala3337Thr)
c.9730G>A (p.Ala3244Thr)
c.9514G>A (p.Ala3172Thr)
c.9655G>A (p.Ala3219Thr)
c.9604G>A (p.Ala3202Thr)
c.9601G>A (p.Ala3201Thr)
1g.21841155A=CA1158133646HSPG2c.9459T= (p.Pro3153=)
c.9462T= (p.Pro3154=)
c.10005T= (p.Pro3335=)
c.9957T= (p.Pro3319=)
c.9936T= (p.Pro3312=)
c.10008T= (p.Pro3336=)
c.9729T= (p.Pro3243=)
c.9513T= (p.Pro3171=)
c.9654T= (p.Pro3218=)
c.9603T= (p.Pro3201=)
c.9600T= (p.Pro3200=)
1g.21841155A>CCA416547357HSPG2c.9459T>G (p.Pro3153=)
c.9462T>G (p.Pro3154=)
c.10005T>G (p.Pro3335=)
c.9957T>G (p.Pro3319=)
c.9936T>G (p.Pro3312=)
c.10008T>G (p.Pro3336=)
c.9729T>G (p.Pro3243=)
c.9513T>G (p.Pro3171=)
c.9654T>G (p.Pro3218=)
c.9603T>G (p.Pro3201=)
c.9600T>G (p.Pro3200=)
1g.21841155A>GCA416547356HSPG2c.9459T>C (p.Pro3153=)
c.9462T>C (p.Pro3154=)
c.10005T>C (p.Pro3335=)
c.9957T>C (p.Pro3319=)
c.9936T>C (p.Pro3312=)
c.10008T>C (p.Pro3336=)
c.9729T>C (p.Pro3243=)
c.9513T>C (p.Pro3171=)
c.9654T>C (p.Pro3218=)
c.9603T>C (p.Pro3201=)
c.9600T>C (p.Pro3200=)
dbSNP gnomAD v2 gnomAD v4
1g.21841155A>TCA416547355HSPG2c.9459T>A (p.Pro3153=)
c.9462T>A (p.Pro3154=)
c.10005T>A (p.Pro3335=)
c.9957T>A (p.Pro3319=)
c.9936T>A (p.Pro3312=)
c.10008T>A (p.Pro3336=)
c.9729T>A (p.Pro3243=)
c.9513T>A (p.Pro3171=)
c.9654T>A (p.Pro3218=)
c.9603T>A (p.Pro3201=)
c.9600T>A (p.Pro3200=)
1g.21841156G>ACA670439HSPG2c.9458C>T (p.Pro3153Leu)
c.9461C>T (p.Pro3154Leu)
c.10004C>T (p.Pro3335Leu)
c.9956C>T (p.Pro3319Leu)
c.9935C>T (p.Pro3312Leu)
c.10007C>T (p.Pro3336Leu)
c.9728C>T (p.Pro3243Leu)
c.9512C>T (p.Pro3171Leu)
c.9653C>T (p.Pro3218Leu)
c.9602C>T (p.Pro3201Leu)
c.9599C>T (p.Pro3200Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.21841156G>CCA338914080HSPG2c.9458C>G (p.Pro3153Arg)
c.9461C>G (p.Pro3154Arg)
c.10004C>G (p.Pro3335Arg)
c.9956C>G (p.Pro3319Arg)
c.9935C>G (p.Pro3312Arg)
c.10007C>G (p.Pro3336Arg)
c.9728C>G (p.Pro3243Arg)
c.9512C>G (p.Pro3171Arg)
c.9653C>G (p.Pro3218Arg)
c.9602C>G (p.Pro3201Arg)
c.9599C>G (p.Pro3200Arg)
1g.21841156G=CA1158133647HSPG2c.9458C= (p.Pro3153=)
c.9461C= (p.Pro3154=)
c.10004C= (p.Pro3335=)
c.9956C= (p.Pro3319=)
c.9935C= (p.Pro3312=)
c.10007C= (p.Pro3336=)
c.9728C= (p.Pro3243=)
c.9512C= (p.Pro3171=)
c.9653C= (p.Pro3218=)
c.9602C= (p.Pro3201=)
c.9599C= (p.Pro3200=)
1g.21841156G>TCA338914081HSPG2c.9458C>A (p.Pro3153His)
c.9461C>A (p.Pro3154His)
c.10004C>A (p.Pro3335His)
c.9956C>A (p.Pro3319His)
c.9935C>A (p.Pro3312His)
c.10007C>A (p.Pro3336His)
c.9728C>A (p.Pro3243His)
c.9512C>A (p.Pro3171His)
c.9653C>A (p.Pro3218His)
c.9602C>A (p.Pro3201His)
c.9599C>A (p.Pro3200His)
1g.21841157G>ACA338914082HSPG2c.9457C>T (p.Pro3153Ser)
c.9460C>T (p.Pro3154Ser)
c.10003C>T (p.Pro3335Ser)
c.9955C>T (p.Pro3319Ser)
c.9934C>T (p.Pro3312Ser)
c.10006C>T (p.Pro3336Ser)
c.9727C>T (p.Pro3243Ser)
c.9511C>T (p.Pro3171Ser)
c.9652C>T (p.Pro3218Ser)
c.9601C>T (p.Pro3201Ser)
c.9598C>T (p.Pro3200Ser)
1g.21841157G>CCA338914083HSPG2c.9457C>G (p.Pro3153Ala)
c.9460C>G (p.Pro3154Ala)
c.10003C>G (p.Pro3335Ala)
c.9955C>G (p.Pro3319Ala)
c.9934C>G (p.Pro3312Ala)
c.10006C>G (p.Pro3336Ala)
c.9727C>G (p.Pro3243Ala)
c.9511C>G (p.Pro3171Ala)
c.9652C>G (p.Pro3218Ala)
c.9601C>G (p.Pro3201Ala)
c.9598C>G (p.Pro3200Ala)
1g.21841157G=CA1158133648HSPG2c.9457C= (p.Pro3153=)
c.9460C= (p.Pro3154=)
c.10003C= (p.Pro3335=)
c.9955C= (p.Pro3319=)
c.9934C= (p.Pro3312=)
c.10006C= (p.Pro3336=)
c.9727C= (p.Pro3243=)
c.9511C= (p.Pro3171=)
c.9652C= (p.Pro3218=)
c.9601C= (p.Pro3201=)
c.9598C= (p.Pro3200=)
1g.21841157G>TCA338914084HSPG2c.9457C>A (p.Pro3153Thr)
c.9460C>A (p.Pro3154Thr)
c.10003C>A (p.Pro3335Thr)
c.9955C>A (p.Pro3319Thr)
c.9934C>A (p.Pro3312Thr)
c.10006C>A (p.Pro3336Thr)
c.9727C>A (p.Pro3243Thr)
c.9511C>A (p.Pro3171Thr)
c.9652C>A (p.Pro3218Thr)
c.9601C>A (p.Pro3201Thr)
c.9598C>A (p.Pro3200Thr)
dbSNP gnomAD v3 gnomAD v4
1g.21841158G>ACA416547361HSPG2c.9456C>T (p.Thr3152=)
c.9459C>T (p.Thr3153=)
c.10002C>T (p.Thr3334=)
c.9954C>T (p.Thr3318=)
c.9933C>T (p.Thr3311=)
c.10005C>T (p.Thr3335=)
c.9726C>T (p.Thr3242=)
c.9510C>T (p.Thr3170=)
c.9651C>T (p.Thr3217=)
c.9600C>T (p.Thr3200=)
c.9597C>T (p.Thr3199=)
1g.21841158G>CCA416547362HSPG2c.9456C>G (p.Thr3152=)
c.9459C>G (p.Thr3153=)
c.10002C>G (p.Thr3334=)
c.9954C>G (p.Thr3318=)
c.9933C>G (p.Thr3311=)
c.10005C>G (p.Thr3335=)
c.9726C>G (p.Thr3242=)
c.9510C>G (p.Thr3170=)
c.9651C>G (p.Thr3217=)
c.9600C>G (p.Thr3200=)
c.9597C>G (p.Thr3199=)
dbSNP gnomAD v2 gnomAD v4
1g.21841158G=CA1158133649HSPG2c.9456C= (p.Thr3152=)
c.9459C= (p.Thr3153=)
c.10002C= (p.Thr3334=)
c.9954C= (p.Thr3318=)
c.9933C= (p.Thr3311=)
c.10005C= (p.Thr3335=)
c.9726C= (p.Thr3242=)
c.9510C= (p.Thr3170=)
c.9651C= (p.Thr3217=)
c.9600C= (p.Thr3200=)
c.9597C= (p.Thr3199=)
1g.21841158G>TCA416547363HSPG2c.9456C>A (p.Thr3152=)
c.9459C>A (p.Thr3153=)
c.10002C>A (p.Thr3334=)
c.9954C>A (p.Thr3318=)
c.9933C>A (p.Thr3311=)
c.10005C>A (p.Thr3335=)
c.9726C>A (p.Thr3242=)
c.9510C>A (p.Thr3170=)
c.9651C>A (p.Thr3217=)
c.9600C>A (p.Thr3200=)
c.9597C>A (p.Thr3199=)
1g.21841159G>ACA338914087HSPG2c.9455C>T (p.Thr3152Ile)
c.9458C>T (p.Thr3153Ile)
c.10001C>T (p.Thr3334Ile)
c.9953C>T (p.Thr3318Ile)
c.9932C>T (p.Thr3311Ile)
c.10004C>T (p.Thr3335Ile)
c.9725C>T (p.Thr3242Ile)
c.9509C>T (p.Thr3170Ile)
c.9650C>T (p.Thr3217Ile)
c.9599C>T (p.Thr3200Ile)
c.9596C>T (p.Thr3199Ile)
dbSNP gnomAD v4
1g.21841159G>CCA338914085HSPG2c.9455C>G (p.Thr3152Ser)
c.9458C>G (p.Thr3153Ser)
c.10001C>G (p.Thr3334Ser)
c.9953C>G (p.Thr3318Ser)
c.9932C>G (p.Thr3311Ser)
c.10004C>G (p.Thr3335Ser)
c.9725C>G (p.Thr3242Ser)
c.9509C>G (p.Thr3170Ser)
c.9650C>G (p.Thr3217Ser)
c.9599C>G (p.Thr3200Ser)
c.9596C>G (p.Thr3199Ser)
1g.21841159G=CA1158133650HSPG2c.9455C= (p.Thr3152=)
c.9458C= (p.Thr3153=)
c.10001C= (p.Thr3334=)
c.9953C= (p.Thr3318=)
c.9932C= (p.Thr3311=)
c.10004C= (p.Thr3335=)
c.9725C= (p.Thr3242=)
c.9509C= (p.Thr3170=)
c.9650C= (p.Thr3217=)
c.9599C= (p.Thr3200=)
c.9596C= (p.Thr3199=)
1g.21841159G>TCA338914086HSPG2c.9455C>A (p.Thr3152Asn)
c.9458C>A (p.Thr3153Asn)
c.10001C>A (p.Thr3334Asn)
c.9953C>A (p.Thr3318Asn)
c.9932C>A (p.Thr3311Asn)
c.10004C>A (p.Thr3335Asn)
c.9725C>A (p.Thr3242Asn)
c.9509C>A (p.Thr3170Asn)
c.9650C>A (p.Thr3217Asn)
c.9599C>A (p.Thr3200Asn)
c.9596C>A (p.Thr3199Asn)
1g.21841160T>ACA338914088HSPG2c.9454A>T (p.Thr3152Ser)
c.9457A>T (p.Thr3153Ser)
c.10000A>T (p.Thr3334Ser)
c.9952A>T (p.Thr3318Ser)
c.9931A>T (p.Thr3311Ser)
c.10003A>T (p.Thr3335Ser)
c.9724A>T (p.Thr3242Ser)
c.9508A>T (p.Thr3170Ser)
c.9649A>T (p.Thr3217Ser)
c.9598A>T (p.Thr3200Ser)
c.9595A>T (p.Thr3199Ser)
gnomAD v4
1g.21841160T>CCA338914089HSPG2c.9454A>G (p.Thr3152Ala)
c.9457A>G (p.Thr3153Ala)
c.10000A>G (p.Thr3334Ala)
c.9952A>G (p.Thr3318Ala)
c.9931A>G (p.Thr3311Ala)
c.10003A>G (p.Thr3335Ala)
c.9724A>G (p.Thr3242Ala)
c.9508A>G (p.Thr3170Ala)
c.9649A>G (p.Thr3217Ala)
c.9598A>G (p.Thr3200Ala)
c.9595A>G (p.Thr3199Ala)
1g.21841160T>GCA670440HSPG2c.9454A>C (p.Thr3152Pro)
c.9457A>C (p.Thr3153Pro)
c.10000A>C (p.Thr3334Pro)
c.9952A>C (p.Thr3318Pro)
c.9931A>C (p.Thr3311Pro)
c.10003A>C (p.Thr3335Pro)
c.9724A>C (p.Thr3242Pro)
c.9508A>C (p.Thr3170Pro)
c.9649A>C (p.Thr3217Pro)
c.9598A>C (p.Thr3200Pro)
c.9595A>C (p.Thr3199Pro)
dbSNP ExAC gnomAD v2
1g.21841160T=CA1158133651HSPG2c.9454A= (p.Thr3152=)
c.9457A= (p.Thr3153=)
c.10000A= (p.Thr3334=)
c.9952A= (p.Thr3318=)
c.9931A= (p.Thr3311=)
c.10003A= (p.Thr3335=)
c.9724A= (p.Thr3242=)
c.9508A= (p.Thr3170=)
c.9649A= (p.Thr3217=)
c.9598A= (p.Thr3200=)
c.9595A= (p.Thr3199=)
1g.21841161G>ACA416547367HSPG2c.9453C>T (p.Ser3151=)
c.9456C>T (p.Ser3152=)
c.9999C>T (p.Ser3333=)
c.9951C>T (p.Ser3317=)
c.9930C>T (p.Ser3310=)
c.10002C>T (p.Ser3334=)
c.9723C>T (p.Ser3241=)
c.9507C>T (p.Ser3169=)
c.9648C>T (p.Ser3216=)
c.9597C>T (p.Ser3199=)
c.9594C>T (p.Ser3198=)
1g.21841161G>CCA338914090HSPG2c.9453C>G (p.Ser3151Arg)
c.9456C>G (p.Ser3152Arg)
c.9999C>G (p.Ser3333Arg)
c.9951C>G (p.Ser3317Arg)
c.9930C>G (p.Ser3310Arg)
c.10002C>G (p.Ser3334Arg)
c.9723C>G (p.Ser3241Arg)
c.9507C>G (p.Ser3169Arg)
c.9648C>G (p.Ser3216Arg)
c.9597C>G (p.Ser3199Arg)
c.9594C>G (p.Ser3198Arg)
1g.21841161G>TCA338914091HSPG2c.9453C>A (p.Ser3151Arg)
c.9456C>A (p.Ser3152Arg)
c.9999C>A (p.Ser3333Arg)
c.9951C>A (p.Ser3317Arg)
c.9930C>A (p.Ser3310Arg)
c.10002C>A (p.Ser3334Arg)
c.9723C>A (p.Ser3241Arg)
c.9507C>A (p.Ser3169Arg)
c.9648C>A (p.Ser3216Arg)
c.9597C>A (p.Ser3199Arg)
c.9594C>A (p.Ser3198Arg)
1g.21841162C>ACA338914094HSPG2c.9452G>T (p.Ser3151Ile)
c.9455G>T (p.Ser3152Ile)
c.9998G>T (p.Ser3333Ile)
c.9950G>T (p.Ser3317Ile)
c.9929G>T (p.Ser3310Ile)
c.10001G>T (p.Ser3334Ile)
c.9722G>T (p.Ser3241Ile)
c.9506G>T (p.Ser3169Ile)
c.9647G>T (p.Ser3216Ile)
c.9596G>T (p.Ser3199Ile)
c.9593G>T (p.Ser3198Ile)
1g.21841162C=CA1158133652HSPG2c.9452G= (p.Ser3151=)
c.9455G= (p.Ser3152=)
c.9998G= (p.Ser3333=)
c.9950G= (p.Ser3317=)
c.9929G= (p.Ser3310=)
c.10001G= (p.Ser3334=)
c.9722G= (p.Ser3241=)
c.9506G= (p.Ser3169=)
c.9647G= (p.Ser3216=)
c.9596G= (p.Ser3199=)
c.9593G= (p.Ser3198=)
1g.21841162C>GCA338914092HSPG2c.9452G>C (p.Ser3151Thr)
c.9455G>C (p.Ser3152Thr)
c.9998G>C (p.Ser3333Thr)
c.9950G>C (p.Ser3317Thr)
c.9929G>C (p.Ser3310Thr)
c.10001G>C (p.Ser3334Thr)
c.9722G>C (p.Ser3241Thr)
c.9506G>C (p.Ser3169Thr)
c.9647G>C (p.Ser3216Thr)
c.9596G>C (p.Ser3199Thr)
c.9593G>C (p.Ser3198Thr)
1g.21841162C>TCA338914093HSPG2c.9452G>A (p.Ser3151Asn)
c.9455G>A (p.Ser3152Asn)
c.9998G>A (p.Ser3333Asn)
c.9950G>A (p.Ser3317Asn)
c.9929G>A (p.Ser3310Asn)
c.10001G>A (p.Ser3334Asn)
c.9722G>A (p.Ser3241Asn)
c.9506G>A (p.Ser3169Asn)
c.9647G>A (p.Ser3216Asn)
c.9596G>A (p.Ser3199Asn)
c.9593G>A (p.Ser3198Asn)
dbSNP gnomAD v3 gnomAD v4
1g.21841163T>ACA338914095HSPG2c.9451A>T (p.Ser3151Cys)
c.9454A>T (p.Ser3152Cys)
c.9997A>T (p.Ser3333Cys)
c.9949A>T (p.Ser3317Cys)
c.9928A>T (p.Ser3310Cys)
c.10000A>T (p.Ser3334Cys)
c.9721A>T (p.Ser3241Cys)
c.9505A>T (p.Ser3169Cys)
c.9646A>T (p.Ser3216Cys)
c.9595A>T (p.Ser3199Cys)
c.9592A>T (p.Ser3198Cys)
1g.21841163T>CCA338914096HSPG2c.9451A>G (p.Ser3151Gly)
c.9454A>G (p.Ser3152Gly)
c.9997A>G (p.Ser3333Gly)
c.9949A>G (p.Ser3317Gly)
c.9928A>G (p.Ser3310Gly)
c.10000A>G (p.Ser3334Gly)
c.9721A>G (p.Ser3241Gly)
c.9505A>G (p.Ser3169Gly)
c.9646A>G (p.Ser3216Gly)
c.9595A>G (p.Ser3199Gly)
c.9592A>G (p.Ser3198Gly)
dbSNP
1g.21841163T>GCA338914097HSPG2c.9451A>C (p.Ser3151Arg)
c.9454A>C (p.Ser3152Arg)
c.9997A>C (p.Ser3333Arg)
c.9949A>C (p.Ser3317Arg)
c.9928A>C (p.Ser3310Arg)
c.10000A>C (p.Ser3334Arg)
c.9721A>C (p.Ser3241Arg)
c.9505A>C (p.Ser3169Arg)
c.9646A>C (p.Ser3216Arg)
c.9595A>C (p.Ser3199Arg)
c.9592A>C (p.Ser3198Arg)
1g.21841163T=CA1158133653HSPG2c.9451A= (p.Ser3151=)
c.9454A= (p.Ser3152=)
c.9997A= (p.Ser3333=)
c.9949A= (p.Ser3317=)
c.9928A= (p.Ser3310=)
c.10000A= (p.Ser3334=)
c.9721A= (p.Ser3241=)
c.9505A= (p.Ser3169=)
c.9646A= (p.Ser3216=)
c.9595A= (p.Ser3199=)
c.9592A= (p.Ser3198=)
1g.21841164G>ACA416547371HSPG2c.9450C>T (p.Ser3150=)
c.9453C>T (p.Ser3151=)
c.9996C>T (p.Ser3332=)
c.9948C>T (p.Ser3316=)
c.9927C>T (p.Ser3309=)
c.9999C>T (p.Ser3333=)
c.9720C>T (p.Ser3240=)
c.9504C>T (p.Ser3168=)
c.9645C>T (p.Ser3215=)
c.9594C>T (p.Ser3198=)
c.9591C>T (p.Ser3197=)
dbSNP gnomAD v3 gnomAD v4
1g.21841164G>CCA338914098HSPG2c.9450C>G (p.Ser3150Arg)
c.9453C>G (p.Ser3151Arg)
c.9996C>G (p.Ser3332Arg)
c.9948C>G (p.Ser3316Arg)
c.9927C>G (p.Ser3309Arg)
c.9999C>G (p.Ser3333Arg)
c.9720C>G (p.Ser3240Arg)
c.9504C>G (p.Ser3168Arg)
c.9645C>G (p.Ser3215Arg)
c.9594C>G (p.Ser3198Arg)
c.9591C>G (p.Ser3197Arg)
1g.21841164G=CA1158133654HSPG2c.9450C= (p.Ser3150=)
c.9453C= (p.Ser3151=)
c.9996C= (p.Ser3332=)
c.9948C= (p.Ser3316=)
c.9927C= (p.Ser3309=)
c.9999C= (p.Ser3333=)
c.9720C= (p.Ser3240=)
c.9504C= (p.Ser3168=)
c.9645C= (p.Ser3215=)
c.9594C= (p.Ser3198=)
c.9591C= (p.Ser3197=)
1g.21841164G>TCA338914099HSPG2c.9450C>A (p.Ser3150Arg)
c.9453C>A (p.Ser3151Arg)
c.9996C>A (p.Ser3332Arg)
c.9948C>A (p.Ser3316Arg)
c.9927C>A (p.Ser3309Arg)
c.9999C>A (p.Ser3333Arg)
c.9720C>A (p.Ser3240Arg)
c.9504C>A (p.Ser3168Arg)
c.9645C>A (p.Ser3215Arg)
c.9594C>A (p.Ser3198Arg)
c.9591C>A (p.Ser3197Arg)
1g.21841165C>ACA338914100HSPG2c.9449G>T (p.Ser3150Ile)
c.9452G>T (p.Ser3151Ile)
c.9995G>T (p.Ser3332Ile)
c.9947G>T (p.Ser3316Ile)
c.9926G>T (p.Ser3309Ile)
c.9998G>T (p.Ser3333Ile)
c.9719G>T (p.Ser3240Ile)
c.9503G>T (p.Ser3168Ile)
c.9644G>T (p.Ser3215Ile)
c.9593G>T (p.Ser3198Ile)
c.9590G>T (p.Ser3197Ile)
1g.21841165C>GCA338914101HSPG2c.9449G>C (p.Ser3150Thr)
c.9452G>C (p.Ser3151Thr)
c.9995G>C (p.Ser3332Thr)
c.9947G>C (p.Ser3316Thr)
c.9926G>C (p.Ser3309Thr)
c.9998G>C (p.Ser3333Thr)
c.9719G>C (p.Ser3240Thr)
c.9503G>C (p.Ser3168Thr)
c.9644G>C (p.Ser3215Thr)
c.9593G>C (p.Ser3198Thr)
c.9590G>C (p.Ser3197Thr)
1g.21841165C>TCA338914102HSPG2c.9449G>A (p.Ser3150Asn)
c.9452G>A (p.Ser3151Asn)
c.9995G>A (p.Ser3332Asn)
c.9947G>A (p.Ser3316Asn)
c.9926G>A (p.Ser3309Asn)
c.9998G>A (p.Ser3333Asn)
c.9719G>A (p.Ser3240Asn)
c.9503G>A (p.Ser3168Asn)
c.9644G>A (p.Ser3215Asn)
c.9593G>A (p.Ser3198Asn)
c.9590G>A (p.Ser3197Asn)
gnomAD v4
1g.21841166T>ACA338914103HSPG2c.9448A>T (p.Ser3150Cys)
c.9451A>T (p.Ser3151Cys)
c.9994A>T (p.Ser3332Cys)
c.9946A>T (p.Ser3316Cys)
c.9925A>T (p.Ser3309Cys)
c.9997A>T (p.Ser3333Cys)
c.9718A>T (p.Ser3240Cys)
c.9502A>T (p.Ser3168Cys)
c.9643A>T (p.Ser3215Cys)
c.9592A>T (p.Ser3198Cys)
c.9589A>T (p.Ser3197Cys)
1g.21841166T>CCA338914104HSPG2c.9448A>G (p.Ser3150Gly)
c.9451A>G (p.Ser3151Gly)
c.9994A>G (p.Ser3332Gly)
c.9946A>G (p.Ser3316Gly)
c.9925A>G (p.Ser3309Gly)
c.9997A>G (p.Ser3333Gly)
c.9718A>G (p.Ser3240Gly)
c.9502A>G (p.Ser3168Gly)
c.9643A>G (p.Ser3215Gly)
c.9592A>G (p.Ser3198Gly)
c.9589A>G (p.Ser3197Gly)
gnomAD v4
1g.21841166T>GCA338914105HSPG2c.9448A>C (p.Ser3150Arg)
c.9451A>C (p.Ser3151Arg)
c.9994A>C (p.Ser3332Arg)
c.9946A>C (p.Ser3316Arg)
c.9925A>C (p.Ser3309Arg)
c.9997A>C (p.Ser3333Arg)
c.9718A>C (p.Ser3240Arg)
c.9502A>C (p.Ser3168Arg)
c.9643A>C (p.Ser3215Arg)
c.9592A>C (p.Ser3198Arg)
c.9589A>C (p.Ser3197Arg)
1g.21841167G>ACA416547376HSPG2c.9447C>T (p.Ile3149=)
c.9450C>T (p.Ile3150=)
c.9993C>T (p.Ile3331=)
c.9945C>T (p.Ile3315=)
c.9924C>T (p.Ile3308=)
c.9996C>T (p.Ile3332=)
c.9717C>T (p.Ile3239=)
c.9501C>T (p.Ile3167=)
c.9642C>T (p.Ile3214=)
c.9591C>T (p.Ile3197=)
c.9588C>T (p.Ile3196=)
gnomAD v4
1g.21841167G>CCA338914106HSPG2c.9447C>G (p.Ile3149Met)
c.9450C>G (p.Ile3150Met)
c.9993C>G (p.Ile3331Met)
c.9945C>G (p.Ile3315Met)
c.9924C>G (p.Ile3308Met)
c.9996C>G (p.Ile3332Met)
c.9717C>G (p.Ile3239Met)
c.9501C>G (p.Ile3167Met)
c.9642C>G (p.Ile3214Met)
c.9591C>G (p.Ile3197Met)
c.9588C>G (p.Ile3196Met)
1g.21841167G>TCA416547375HSPG2c.9447C>A (p.Ile3149=)
c.9450C>A (p.Ile3150=)
c.9993C>A (p.Ile3331=)
c.9945C>A (p.Ile3315=)
c.9924C>A (p.Ile3308=)
c.9996C>A (p.Ile3332=)
c.9717C>A (p.Ile3239=)
c.9501C>A (p.Ile3167=)
c.9642C>A (p.Ile3214=)
c.9591C>A (p.Ile3197=)
c.9588C>A (p.Ile3196=)
1g.21841168A>CCA338914107HSPG2c.9446T>G (p.Ile3149Ser)
c.9449T>G (p.Ile3150Ser)
c.9992T>G (p.Ile3331Ser)
c.9944T>G (p.Ile3315Ser)
c.9923T>G (p.Ile3308Ser)
c.9995T>G (p.Ile3332Ser)
c.9716T>G (p.Ile3239Ser)
c.9500T>G (p.Ile3167Ser)
c.9641T>G (p.Ile3214Ser)
c.9590T>G (p.Ile3197Ser)
c.9587T>G (p.Ile3196Ser)
1g.21841168A>GCA338914109HSPG2c.9446T>C (p.Ile3149Thr)
c.9449T>C (p.Ile3150Thr)
c.9992T>C (p.Ile3331Thr)
c.9944T>C (p.Ile3315Thr)
c.9923T>C (p.Ile3308Thr)
c.9995T>C (p.Ile3332Thr)
c.9716T>C (p.Ile3239Thr)
c.9500T>C (p.Ile3167Thr)
c.9641T>C (p.Ile3214Thr)
c.9590T>C (p.Ile3197Thr)
c.9587T>C (p.Ile3196Thr)
1g.21841168A>TCA338914108HSPG2c.9446T>A (p.Ile3149Asn)
c.9449T>A (p.Ile3150Asn)
c.9992T>A (p.Ile3331Asn)
c.9944T>A (p.Ile3315Asn)
c.9923T>A (p.Ile3308Asn)
c.9995T>A (p.Ile3332Asn)
c.9716T>A (p.Ile3239Asn)
c.9500T>A (p.Ile3167Asn)
c.9641T>A (p.Ile3214Asn)
c.9590T>A (p.Ile3197Asn)
c.9587T>A (p.Ile3196Asn)
1g.21841169T>ACA338914110HSPG2c.9445A>T (p.Ile3149Phe)
c.9448A>T (p.Ile3150Phe)
c.9991A>T (p.Ile3331Phe)
c.9943A>T (p.Ile3315Phe)
c.9922A>T (p.Ile3308Phe)
c.9994A>T (p.Ile3332Phe)
c.9715A>T (p.Ile3239Phe)
c.9499A>T (p.Ile3167Phe)
c.9640A>T (p.Ile3214Phe)
c.9589A>T (p.Ile3197Phe)
c.9586A>T (p.Ile3196Phe)
1g.21841169T>CCA338914112HSPG2c.9445A>G (p.Ile3149Val)
c.9448A>G (p.Ile3150Val)
c.9991A>G (p.Ile3331Val)
c.9943A>G (p.Ile3315Val)
c.9922A>G (p.Ile3308Val)
c.9994A>G (p.Ile3332Val)
c.9715A>G (p.Ile3239Val)
c.9499A>G (p.Ile3167Val)
c.9640A>G (p.Ile3214Val)
c.9589A>G (p.Ile3197Val)
c.9586A>G (p.Ile3196Val)
1g.21841169T>GCA338914111HSPG2c.9445A>C (p.Ile3149Leu)
c.9448A>C (p.Ile3150Leu)
c.9991A>C (p.Ile3331Leu)
c.9943A>C (p.Ile3315Leu)
c.9922A>C (p.Ile3308Leu)
c.9994A>C (p.Ile3332Leu)
c.9715A>C (p.Ile3239Leu)
c.9499A>C (p.Ile3167Leu)
c.9640A>C (p.Ile3214Leu)
c.9589A>C (p.Ile3197Leu)
c.9586A>C (p.Ile3196Leu)
1g.21841170C>ACA670441HSPG2c.9444G>T (p.Arg3148=)
c.9447G>T (p.Arg3149=)
c.9990G>T (p.Arg3330=)
c.9942G>T (p.Arg3314=)
c.9921G>T (p.Arg3307=)
c.9993G>T (p.Arg3331=)
c.9714G>T (p.Arg3238=)
c.9498G>T (p.Arg3166=)
c.9639G>T (p.Arg3213=)
c.9588G>T (p.Arg3196=)
c.9585G>T (p.Arg3195=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.21841170C=CA1158133655HSPG2c.9444G= (p.Arg3148=)
c.9447G= (p.Arg3149=)
c.9990G= (p.Arg3330=)
c.9942G= (p.Arg3314=)
c.9921G= (p.Arg3307=)
c.9993G= (p.Arg3331=)
c.9714G= (p.Arg3238=)
c.9498G= (p.Arg3166=)
c.9639G= (p.Arg3213=)
c.9588G= (p.Arg3196=)
c.9585G= (p.Arg3195=)
1g.21841170C>GCA416547378HSPG2c.9444G>C (p.Arg3148=)
c.9447G>C (p.Arg3149=)
c.9990G>C (p.Arg3330=)
c.9942G>C (p.Arg3314=)
c.9921G>C (p.Arg3307=)
c.9993G>C (p.Arg3331=)
c.9714G>C (p.Arg3238=)
c.9498G>C (p.Arg3166=)
c.9639G>C (p.Arg3213=)
c.9588G>C (p.Arg3196=)
c.9585G>C (p.Arg3195=)
1g.21841170C>TCA670442HSPG2c.9444G>A (p.Arg3148=)
c.9447G>A (p.Arg3149=)
c.9990G>A (p.Arg3330=)
c.9942G>A (p.Arg3314=)
c.9921G>A (p.Arg3307=)
c.9993G>A (p.Arg3331=)
c.9714G>A (p.Arg3238=)
c.9498G>A (p.Arg3166=)
c.9639G>A (p.Arg3213=)
c.9588G>A (p.Arg3196=)
c.9585G>A (p.Arg3195=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21841171C>ACA338914115HSPG2c.9443G>T (p.Arg3148Leu)
c.9446G>T (p.Arg3149Leu)
c.9989G>T (p.Arg3330Leu)
c.9941G>T (p.Arg3314Leu)
c.9920G>T (p.Arg3307Leu)
c.9992G>T (p.Arg3331Leu)
c.9713G>T (p.Arg3238Leu)
c.9497G>T (p.Arg3166Leu)
c.9638G>T (p.Arg3213Leu)
c.9587G>T (p.Arg3196Leu)
c.9584G>T (p.Arg3195Leu)
1g.21841171C=CA1158133656HSPG2c.9443G= (p.Arg3148=)
c.9446G= (p.Arg3149=)
c.9989G= (p.Arg3330=)
c.9941G= (p.Arg3314=)
c.9920G= (p.Arg3307=)
c.9992G= (p.Arg3331=)
c.9713G= (p.Arg3238=)
c.9497G= (p.Arg3166=)
c.9638G= (p.Arg3213=)
c.9587G= (p.Arg3196=)
c.9584G= (p.Arg3195=)
1g.21841171C>GCA338914117HSPG2c.9443G>C (p.Arg3148Pro)
c.9446G>C (p.Arg3149Pro)
c.9989G>C (p.Arg3330Pro)
c.9941G>C (p.Arg3314Pro)
c.9920G>C (p.Arg3307Pro)
c.9992G>C (p.Arg3331Pro)
c.9713G>C (p.Arg3238Pro)
c.9497G>C (p.Arg3166Pro)
c.9638G>C (p.Arg3213Pro)
c.9587G>C (p.Arg3196Pro)
c.9584G>C (p.Arg3195Pro)
ClinVar gnomAD v4
1g.21841171C>TCA670443HSPG2c.9443G>A (p.Arg3148Gln)
c.9446G>A (p.Arg3149Gln)
c.9989G>A (p.Arg3330Gln)
c.9941G>A (p.Arg3314Gln)
c.9920G>A (p.Arg3307Gln)
c.9992G>A (p.Arg3331Gln)
c.9713G>A (p.Arg3238Gln)
c.9497G>A (p.Arg3166Gln)
c.9638G>A (p.Arg3213Gln)
c.9587G>A (p.Arg3196Gln)
c.9584G>A (p.Arg3195Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21841172G>ACA670444HSPG2c.9442C>T (p.Arg3148Trp)
c.9445C>T (p.Arg3149Trp)
c.9988C>T (p.Arg3330Trp)
c.9940C>T (p.Arg3314Trp)
c.9919C>T (p.Arg3307Trp)
c.9991C>T (p.Arg3331Trp)
c.9712C>T (p.Arg3238Trp)
c.9496C>T (p.Arg3166Trp)
c.9637C>T (p.Arg3213Trp)
c.9586C>T (p.Arg3196Trp)
c.9583C>T (p.Arg3195Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21841172G>CCA338914120HSPG2c.9442C>G (p.Arg3148Gly)
c.9445C>G (p.Arg3149Gly)
c.9988C>G (p.Arg3330Gly)
c.9940C>G (p.Arg3314Gly)
c.9919C>G (p.Arg3307Gly)
c.9991C>G (p.Arg3331Gly)
c.9712C>G (p.Arg3238Gly)
c.9496C>G (p.Arg3166Gly)
c.9637C>G (p.Arg3213Gly)
c.9586C>G (p.Arg3196Gly)
c.9583C>G (p.Arg3195Gly)
1g.21841172G=CA1147812394HSPG2c.9442C= (p.Arg3148=)
c.9445C= (p.Arg3149=)
c.9988C= (p.Arg3330=)
c.9940C= (p.Arg3314=)
c.9919C= (p.Arg3307=)
c.9991C= (p.Arg3331=)
c.9712C= (p.Arg3238=)
c.9496C= (p.Arg3166=)
c.9637C= (p.Arg3213=)
c.9586C= (p.Arg3196=)
c.9583C= (p.Arg3195=)
1g.21841172G>TCA416547379HSPG2c.9442C>A (p.Arg3148=)
c.9445C>A (p.Arg3149=)
c.9988C>A (p.Arg3330=)
c.9940C>A (p.Arg3314=)
c.9919C>A (p.Arg3307=)
c.9991C>A (p.Arg3331=)
c.9712C>A (p.Arg3238=)
c.9496C>A (p.Arg3166=)
c.9637C>A (p.Arg3213=)
c.9586C>A (p.Arg3196=)
c.9583C>A (p.Arg3195=)
1g.21841173G>ACA416547381HSPG2c.9441C>T (p.Thr3147=)
c.9444C>T (p.Thr3148=)
c.9987C>T (p.Thr3329=)
c.9939C>T (p.Thr3313=)
c.9918C>T (p.Thr3306=)
c.9990C>T (p.Thr3330=)
c.9711C>T (p.Thr3237=)
c.9495C>T (p.Thr3165=)
c.9636C>T (p.Thr3212=)
c.9585C>T (p.Thr3195=)
c.9582C>T (p.Thr3194=)
dbSNP gnomAD v3 gnomAD v4
1g.21841173G>CCA416547382HSPG2c.9441C>G (p.Thr3147=)
c.9444C>G (p.Thr3148=)
c.9987C>G (p.Thr3329=)
c.9939C>G (p.Thr3313=)
c.9918C>G (p.Thr3306=)
c.9990C>G (p.Thr3330=)
c.9711C>G (p.Thr3237=)
c.9495C>G (p.Thr3165=)
c.9636C>G (p.Thr3212=)
c.9585C>G (p.Thr3195=)
c.9582C>G (p.Thr3194=)
1g.21841173G=CA1158133657HSPG2c.9441C= (p.Thr3147=)
c.9444C= (p.Thr3148=)
c.9987C= (p.Thr3329=)
c.9939C= (p.Thr3313=)
c.9918C= (p.Thr3306=)
c.9990C= (p.Thr3330=)
c.9711C= (p.Thr3237=)
c.9495C= (p.Thr3165=)
c.9636C= (p.Thr3212=)
c.9585C= (p.Thr3195=)
c.9582C= (p.Thr3194=)
1g.21841173G>TCA670445HSPG2c.9441C>A (p.Thr3147=)
c.9444C>A (p.Thr3148=)
c.9987C>A (p.Thr3329=)
c.9939C>A (p.Thr3313=)
c.9918C>A (p.Thr3306=)
c.9990C>A (p.Thr3330=)
c.9711C>A (p.Thr3237=)
c.9495C>A (p.Thr3165=)
c.9636C>A (p.Thr3212=)
c.9585C>A (p.Thr3195=)
c.9582C>A (p.Thr3194=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21841174G>ACA338914124HSPG2c.9440C>T (p.Thr3147Ile)
c.9443C>T (p.Thr3148Ile)
c.9986C>T (p.Thr3329Ile)
c.9938C>T (p.Thr3313Ile)
c.9917C>T (p.Thr3306Ile)
c.9989C>T (p.Thr3330Ile)
c.9710C>T (p.Thr3237Ile)
c.9494C>T (p.Thr3165Ile)
c.9635C>T (p.Thr3212Ile)
c.9584C>T (p.Thr3195Ile)
c.9581C>T (p.Thr3194Ile)
1g.21841174G>CCA338914126HSPG2c.9440C>G (p.Thr3147Ser)
c.9443C>G (p.Thr3148Ser)
c.9986C>G (p.Thr3329Ser)
c.9938C>G (p.Thr3313Ser)
c.9917C>G (p.Thr3306Ser)
c.9989C>G (p.Thr3330Ser)
c.9710C>G (p.Thr3237Ser)
c.9494C>G (p.Thr3165Ser)
c.9635C>G (p.Thr3212Ser)
c.9584C>G (p.Thr3195Ser)
c.9581C>G (p.Thr3194Ser)
1g.21841174G>TCA338914127HSPG2c.9440C>A (p.Thr3147Asn)
c.9443C>A (p.Thr3148Asn)
c.9986C>A (p.Thr3329Asn)
c.9938C>A (p.Thr3313Asn)
c.9917C>A (p.Thr3306Asn)
c.9989C>A (p.Thr3330Asn)
c.9710C>A (p.Thr3237Asn)
c.9494C>A (p.Thr3165Asn)
c.9635C>A (p.Thr3212Asn)
c.9584C>A (p.Thr3195Asn)
c.9581C>A (p.Thr3194Asn)
1g.21841175T>ACA338914133HSPG2c.9439A>T (p.Thr3147Ser)
c.9442A>T (p.Thr3148Ser)
c.9985A>T (p.Thr3329Ser)
c.9937A>T (p.Thr3313Ser)
c.9916A>T (p.Thr3306Ser)
c.9988A>T (p.Thr3330Ser)
c.9709A>T (p.Thr3237Ser)
c.9493A>T (p.Thr3165Ser)
c.9634A>T (p.Thr3212Ser)
c.9583A>T (p.Thr3195Ser)
c.9580A>T (p.Thr3194Ser)
1g.21841175T>CCA338914130HSPG2c.9439A>G (p.Thr3147Ala)
c.9442A>G (p.Thr3148Ala)
c.9985A>G (p.Thr3329Ala)
c.9937A>G (p.Thr3313Ala)
c.9916A>G (p.Thr3306Ala)
c.9988A>G (p.Thr3330Ala)
c.9709A>G (p.Thr3237Ala)
c.9493A>G (p.Thr3165Ala)
c.9634A>G (p.Thr3212Ala)
c.9583A>G (p.Thr3195Ala)
c.9580A>G (p.Thr3194Ala)
1g.21841175T>GCA338914132HSPG2c.9439A>C (p.Thr3147Pro)
c.9442A>C (p.Thr3148Pro)
c.9985A>C (p.Thr3329Pro)
c.9937A>C (p.Thr3313Pro)
c.9916A>C (p.Thr3306Pro)
c.9988A>C (p.Thr3330Pro)
c.9709A>C (p.Thr3237Pro)
c.9493A>C (p.Thr3165Pro)
c.9634A>C (p.Thr3212Pro)
c.9583A>C (p.Thr3195Pro)
c.9580A>C (p.Thr3194Pro)
1g.21841176C>ACA338914137HSPG2c.9438G>T (p.Trp3146Cys)
c.9441G>T (p.Trp3147Cys)
c.9984G>T (p.Trp3328Cys)
c.9936G>T (p.Trp3312Cys)
c.9915G>T (p.Trp3305Cys)
c.9987G>T (p.Trp3329Cys)
c.9708G>T (p.Trp3236Cys)
c.9492G>T (p.Trp3164Cys)
c.9633G>T (p.Trp3211Cys)
c.9582G>T (p.Trp3194Cys)
c.9579G>T (p.Trp3193Cys)
1g.21841176C>GCA338914138HSPG2c.9438G>C (p.Trp3146Cys)
c.9441G>C (p.Trp3147Cys)
c.9984G>C (p.Trp3328Cys)
c.9936G>C (p.Trp3312Cys)
c.9915G>C (p.Trp3305Cys)
c.9987G>C (p.Trp3329Cys)
c.9708G>C (p.Trp3236Cys)
c.9492G>C (p.Trp3164Cys)
c.9633G>C (p.Trp3211Cys)
c.9582G>C (p.Trp3194Cys)
c.9579G>C (p.Trp3193Cys)
1g.21841176C>TCA338914140HSPG2c.9438G>A (p.Trp3146Ter)
c.9441G>A (p.Trp3147Ter)
c.9984G>A (p.Trp3328Ter)
c.9936G>A (p.Trp3312Ter)
c.9915G>A (p.Trp3305Ter)
c.9987G>A (p.Trp3329Ter)
c.9708G>A (p.Trp3236Ter)
c.9492G>A (p.Trp3164Ter)
c.9633G>A (p.Trp3211Ter)
c.9582G>A (p.Trp3194Ter)
c.9579G>A (p.Trp3193Ter)
dbSNP
1g.21841177C>ACA338914143HSPG2c.9437G>T (p.Trp3146Leu)
c.9440G>T (p.Trp3147Leu)
c.9983G>T (p.Trp3328Leu)
c.9935G>T (p.Trp3312Leu)
c.9914G>T (p.Trp3305Leu)
c.9986G>T (p.Trp3329Leu)
c.9707G>T (p.Trp3236Leu)
c.9491G>T (p.Trp3164Leu)
c.9632G>T (p.Trp3211Leu)
c.9581G>T (p.Trp3194Leu)
c.9578G>T (p.Trp3193Leu)
1g.21841177C>GCA338914144HSPG2c.9437G>C (p.Trp3146Ser)
c.9440G>C (p.Trp3147Ser)
c.9983G>C (p.Trp3328Ser)
c.9935G>C (p.Trp3312Ser)
c.9914G>C (p.Trp3305Ser)
c.9986G>C (p.Trp3329Ser)
c.9707G>C (p.Trp3236Ser)
c.9491G>C (p.Trp3164Ser)
c.9632G>C (p.Trp3211Ser)
c.9581G>C (p.Trp3194Ser)
c.9578G>C (p.Trp3193Ser)
1g.21841177C>TCA338914146HSPG2c.9437G>A (p.Trp3146Ter)
c.9440G>A (p.Trp3147Ter)
c.9983G>A (p.Trp3328Ter)
c.9935G>A (p.Trp3312Ter)
c.9914G>A (p.Trp3305Ter)
c.9986G>A (p.Trp3329Ter)
c.9707G>A (p.Trp3236Ter)
c.9491G>A (p.Trp3164Ter)
c.9632G>A (p.Trp3211Ter)
c.9581G>A (p.Trp3194Ter)
c.9578G>A (p.Trp3193Ter)
1g.21841178A>CCA338914148HSPG2c.9436T>G (p.Trp3146Gly)
c.9439T>G (p.Trp3147Gly)
c.9982T>G (p.Trp3328Gly)
c.9934T>G (p.Trp3312Gly)
c.9913T>G (p.Trp3305Gly)
c.9985T>G (p.Trp3329Gly)
c.9706T>G (p.Trp3236Gly)
c.9490T>G (p.Trp3164Gly)
c.9631T>G (p.Trp3211Gly)
c.9580T>G (p.Trp3194Gly)
c.9577T>G (p.Trp3193Gly)
1g.21841178A>GCA338914150HSPG2c.9436T>C (p.Trp3146Arg)
c.9439T>C (p.Trp3147Arg)
c.9982T>C (p.Trp3328Arg)
c.9934T>C (p.Trp3312Arg)
c.9913T>C (p.Trp3305Arg)
c.9985T>C (p.Trp3329Arg)
c.9706T>C (p.Trp3236Arg)
c.9490T>C (p.Trp3164Arg)
c.9631T>C (p.Trp3211Arg)
c.9580T>C (p.Trp3194Arg)
c.9577T>C (p.Trp3193Arg)
1g.21841178A>TCA338914152HSPG2c.9436T>A (p.Trp3146Arg)
c.9439T>A (p.Trp3147Arg)
c.9982T>A (p.Trp3328Arg)
c.9934T>A (p.Trp3312Arg)
c.9913T>A (p.Trp3305Arg)
c.9985T>A (p.Trp3329Arg)
c.9706T>A (p.Trp3236Arg)
c.9490T>A (p.Trp3164Arg)
c.9631T>A (p.Trp3211Arg)
c.9580T>A (p.Trp3194Arg)
c.9577T>A (p.Trp3193Arg)
1g.21841179A=CA1158133658HSPG2c.9435T= (p.Arg3145=)
c.9438T= (p.Arg3146=)
c.9981T= (p.Arg3327=)
c.9933T= (p.Arg3311=)
c.9912T= (p.Arg3304=)
c.9984T= (p.Arg3328=)
c.9705T= (p.Arg3235=)
c.9489T= (p.Arg3163=)
c.9630T= (p.Arg3210=)
c.9579T= (p.Arg3193=)
c.9576T= (p.Arg3192=)
1g.21841179A>CCA416547385HSPG2c.9435T>G (p.Arg3145=)
c.9438T>G (p.Arg3146=)
c.9981T>G (p.Arg3327=)
c.9933T>G (p.Arg3311=)
c.9912T>G (p.Arg3304=)
c.9984T>G (p.Arg3328=)
c.9705T>G (p.Arg3235=)
c.9489T>G (p.Arg3163=)
c.9630T>G (p.Arg3210=)
c.9579T>G (p.Arg3193=)
c.9576T>G (p.Arg3192=)
1g.21841179A>GCA670446HSPG2c.9435T>C (p.Arg3145=)
c.9438T>C (p.Arg3146=)
c.9981T>C (p.Arg3327=)
c.9933T>C (p.Arg3311=)
c.9912T>C (p.Arg3304=)
c.9984T>C (p.Arg3328=)
c.9705T>C (p.Arg3235=)
c.9489T>C (p.Arg3163=)
c.9630T>C (p.Arg3210=)
c.9579T>C (p.Arg3193=)
c.9576T>C (p.Arg3192=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.21841179A>TCA416547387HSPG2c.9435T>A (p.Arg3145=)
c.9438T>A (p.Arg3146=)
c.9981T>A (p.Arg3327=)
c.9933T>A (p.Arg3311=)
c.9912T>A (p.Arg3304=)
c.9984T>A (p.Arg3328=)
c.9705T>A (p.Arg3235=)
c.9489T>A (p.Arg3163=)
c.9630T>A (p.Arg3210=)
c.9579T>A (p.Arg3193=)
c.9576T>A (p.Arg3192=)
1g.21841180C>ACA338914157HSPG2c.9434G>T (p.Arg3145Leu)
c.9437G>T (p.Arg3146Leu)
c.9980G>T (p.Arg3327Leu)
c.9932G>T (p.Arg3311Leu)
c.9911G>T (p.Arg3304Leu)
c.9983G>T (p.Arg3328Leu)
c.9704G>T (p.Arg3235Leu)
c.9488G>T (p.Arg3163Leu)
c.9629G>T (p.Arg3210Leu)
c.9578G>T (p.Arg3193Leu)
c.9575G>T (p.Arg3192Leu)
gnomAD v4
1g.21841180C=CA1148295737HSPG2c.9434G= (p.Arg3145=)
c.9437G= (p.Arg3146=)
c.9980G= (p.Arg3327=)
c.9932G= (p.Arg3311=)
c.9911G= (p.Arg3304=)
c.9983G= (p.Arg3328=)
c.9704G= (p.Arg3235=)
c.9488G= (p.Arg3163=)
c.9629G= (p.Arg3210=)
c.9578G= (p.Arg3193=)
c.9575G= (p.Arg3192=)
1g.21841180C>GCA338914159HSPG2c.9434G>C (p.Arg3145Pro)
c.9437G>C (p.Arg3146Pro)
c.9980G>C (p.Arg3327Pro)
c.9932G>C (p.Arg3311Pro)
c.9911G>C (p.Arg3304Pro)
c.9983G>C (p.Arg3328Pro)
c.9704G>C (p.Arg3235Pro)
c.9488G>C (p.Arg3163Pro)
c.9629G>C (p.Arg3210Pro)
c.9578G>C (p.Arg3193Pro)
c.9575G>C (p.Arg3192Pro)
1g.21841180C>TCA670447HSPG2c.9434G>A (p.Arg3145His)
c.9437G>A (p.Arg3146His)
c.9980G>A (p.Arg3327His)
c.9932G>A (p.Arg3311His)
c.9911G>A (p.Arg3304His)
c.9983G>A (p.Arg3328His)
c.9704G>A (p.Arg3235His)
c.9488G>A (p.Arg3163His)
c.9629G>A (p.Arg3210His)
c.9578G>A (p.Arg3193His)
c.9575G>A (p.Arg3192His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21841181G>ACA670448HSPG2c.9433C>T (p.Arg3145Cys)
c.9436C>T (p.Arg3146Cys)
c.9979C>T (p.Arg3327Cys)
c.9931C>T (p.Arg3311Cys)
c.9910C>T (p.Arg3304Cys)
c.9982C>T (p.Arg3328Cys)
c.9703C>T (p.Arg3235Cys)
c.9487C>T (p.Arg3163Cys)
c.9628C>T (p.Arg3210Cys)
c.9577C>T (p.Arg3193Cys)
c.9574C>T (p.Arg3192Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.21841181G>CCA338914162HSPG2c.9433C>G (p.Arg3145Gly)
c.9436C>G (p.Arg3146Gly)
c.9979C>G (p.Arg3327Gly)
c.9931C>G (p.Arg3311Gly)
c.9910C>G (p.Arg3304Gly)
c.9982C>G (p.Arg3328Gly)
c.9703C>G (p.Arg3235Gly)
c.9487C>G (p.Arg3163Gly)
c.9628C>G (p.Arg3210Gly)
c.9577C>G (p.Arg3193Gly)
c.9574C>G (p.Arg3192Gly)
1g.21841181G=CA1158133659HSPG2c.9433C= (p.Arg3145=)
c.9436C= (p.Arg3146=)
c.9979C= (p.Arg3327=)
c.9931C= (p.Arg3311=)
c.9910C= (p.Arg3304=)
c.9982C= (p.Arg3328=)
c.9703C= (p.Arg3235=)
c.9487C= (p.Arg3163=)
c.9628C= (p.Arg3210=)
c.9577C= (p.Arg3193=)
c.9574C= (p.Arg3192=)
1g.21841181G>TCA338914163HSPG2c.9433C>A (p.Arg3145Ser)
c.9436C>A (p.Arg3146Ser)
c.9979C>A (p.Arg3327Ser)
c.9931C>A (p.Arg3311Ser)
c.9910C>A (p.Arg3304Ser)
c.9982C>A (p.Arg3328Ser)
c.9703C>A (p.Arg3235Ser)
c.9487C>A (p.Arg3163Ser)
c.9628C>A (p.Arg3210Ser)
c.9577C>A (p.Arg3193Ser)
c.9574C>A (p.Arg3192Ser)
1g.21841182A>CCA416547390HSPG2c.9432T>G (p.Ala3144=)
c.9435T>G (p.Ala3145=)
c.9978T>G (p.Ala3326=)
c.9930T>G (p.Ala3310=)
c.9909T>G (p.Ala3303=)
c.9981T>G (p.Ala3327=)
c.9702T>G (p.Ala3234=)
c.9486T>G (p.Ala3162=)
c.9627T>G (p.Ala3209=)
c.9576T>G (p.Ala3192=)
c.9573T>G (p.Ala3191=)
1g.21841182A>GCA416547389HSPG2c.9432T>C (p.Ala3144=)
c.9435T>C (p.Ala3145=)
c.9978T>C (p.Ala3326=)
c.9930T>C (p.Ala3310=)
c.9909T>C (p.Ala3303=)
c.9981T>C (p.Ala3327=)
c.9702T>C (p.Ala3234=)
c.9486T>C (p.Ala3162=)
c.9627T>C (p.Ala3209=)
c.9576T>C (p.Ala3192=)
c.9573T>C (p.Ala3191=)
1g.21841182A>TCA416547391HSPG2c.9432T>A (p.Ala3144=)
c.9435T>A (p.Ala3145=)
c.9978T>A (p.Ala3326=)
c.9930T>A (p.Ala3310=)
c.9909T>A (p.Ala3303=)
c.9981T>A (p.Ala3327=)
c.9702T>A (p.Ala3234=)
c.9486T>A (p.Ala3162=)
c.9627T>A (p.Ala3209=)
c.9576T>A (p.Ala3192=)
c.9573T>A (p.Ala3191=)
1g.21841183G>ACA338914166HSPG2c.9431C>T (p.Ala3144Val)
c.9434C>T (p.Ala3145Val)
c.9977C>T (p.Ala3326Val)
c.9929C>T (p.Ala3310Val)
c.9908C>T (p.Ala3303Val)
c.9980C>T (p.Ala3327Val)
c.9701C>T (p.Ala3234Val)
c.9485C>T (p.Ala3162Val)
c.9626C>T (p.Ala3209Val)
c.9575C>T (p.Ala3192Val)
c.9572C>T (p.Ala3191Val)
1g.21841183G>CCA338914168HSPG2c.9431C>G (p.Ala3144Gly)
c.9434C>G (p.Ala3145Gly)
c.9977C>G (p.Ala3326Gly)
c.9929C>G (p.Ala3310Gly)
c.9908C>G (p.Ala3303Gly)
c.9980C>G (p.Ala3327Gly)
c.9701C>G (p.Ala3234Gly)
c.9485C>G (p.Ala3162Gly)
c.9626C>G (p.Ala3209Gly)
c.9575C>G (p.Ala3192Gly)
c.9572C>G (p.Ala3191Gly)
1g.21841183G>TCA338914169HSPG2c.9431C>A (p.Ala3144Asp)
c.9434C>A (p.Ala3145Asp)
c.9977C>A (p.Ala3326Asp)
c.9929C>A (p.Ala3310Asp)
c.9908C>A (p.Ala3303Asp)
c.9980C>A (p.Ala3327Asp)
c.9701C>A (p.Ala3234Asp)
c.9485C>A (p.Ala3162Asp)
c.9626C>A (p.Ala3209Asp)
c.9575C>A (p.Ala3192Asp)
c.9572C>A (p.Ala3191Asp)
1g.21841184C>ACA338914171HSPG2c.9430G>T (p.Ala3144Ser)
c.9433G>T (p.Ala3145Ser)
c.9976G>T (p.Ala3326Ser)
c.9928G>T (p.Ala3310Ser)
c.9907G>T (p.Ala3303Ser)
c.9979G>T (p.Ala3327Ser)
c.9700G>T (p.Ala3234Ser)
c.9484G>T (p.Ala3162Ser)
c.9625G>T (p.Ala3209Ser)
c.9574G>T (p.Ala3192Ser)
c.9571G>T (p.Ala3191Ser)
dbSNP gnomAD v4
1g.21841184C=CA1158133660HSPG2c.9430G= (p.Ala3144=)
c.9433G= (p.Ala3145=)
c.9976G= (p.Ala3326=)
c.9928G= (p.Ala3310=)
c.9907G= (p.Ala3303=)
c.9979G= (p.Ala3327=)
c.9700G= (p.Ala3234=)
c.9484G= (p.Ala3162=)
c.9625G= (p.Ala3209=)
c.9574G= (p.Ala3192=)
c.9571G= (p.Ala3191=)
1g.21841184C>GCA338914173HSPG2c.9430G>C (p.Ala3144Pro)
c.9433G>C (p.Ala3145Pro)
c.9976G>C (p.Ala3326Pro)
c.9928G>C (p.Ala3310Pro)
c.9907G>C (p.Ala3303Pro)
c.9979G>C (p.Ala3327Pro)
c.9700G>C (p.Ala3234Pro)
c.9484G>C (p.Ala3162Pro)
c.9625G>C (p.Ala3209Pro)
c.9574G>C (p.Ala3192Pro)
c.9571G>C (p.Ala3191Pro)
1g.21841184C>TCA338914175HSPG2c.9430G>A (p.Ala3144Thr)
c.9433G>A (p.Ala3145Thr)
c.9976G>A (p.Ala3326Thr)
c.9928G>A (p.Ala3310Thr)
c.9907G>A (p.Ala3303Thr)
c.9979G>A (p.Ala3327Thr)
c.9700G>A (p.Ala3234Thr)
c.9484G>A (p.Ala3162Thr)
c.9625G>A (p.Ala3209Thr)
c.9574G>A (p.Ala3192Thr)
c.9571G>A (p.Ala3191Thr)
1g.21841185A>CCA416547392HSPG2c.9429T>G (p.Ser3143=)
c.9432T>G (p.Ser3144=)
c.9975T>G (p.Ser3325=)
c.9927T>G (p.Ser3309=)
c.9906T>G (p.Ser3302=)
c.9978T>G (p.Ser3326=)
c.9699T>G (p.Ser3233=)
c.9483T>G (p.Ser3161=)
c.9624T>G (p.Ser3208=)
c.9573T>G (p.Ser3191=)
c.9570T>G (p.Ser3190=)
1g.21841185A>GCA416547395HSPG2c.9429T>C (p.Ser3143=)
c.9432T>C (p.Ser3144=)
c.9975T>C (p.Ser3325=)
c.9927T>C (p.Ser3309=)
c.9906T>C (p.Ser3302=)
c.9978T>C (p.Ser3326=)
c.9699T>C (p.Ser3233=)
c.9483T>C (p.Ser3161=)
c.9624T>C (p.Ser3208=)
c.9573T>C (p.Ser3191=)
c.9570T>C (p.Ser3190=)
1g.21841185A>TCA416547393HSPG2c.9429T>A (p.Ser3143=)
c.9432T>A (p.Ser3144=)
c.9975T>A (p.Ser3325=)
c.9927T>A (p.Ser3309=)
c.9906T>A (p.Ser3302=)
c.9978T>A (p.Ser3326=)
c.9699T>A (p.Ser3233=)
c.9483T>A (p.Ser3161=)
c.9624T>A (p.Ser3208=)
c.9573T>A (p.Ser3191=)
c.9570T>A (p.Ser3190=)
1g.21841186G>ACA338914177HSPG2c.9428C>T (p.Ser3143Phe)
c.9431C>T (p.Ser3144Phe)
c.9974C>T (p.Ser3325Phe)
c.9926C>T (p.Ser3309Phe)
c.9905C>T (p.Ser3302Phe)
c.9977C>T (p.Ser3326Phe)
c.9698C>T (p.Ser3233Phe)
c.9482C>T (p.Ser3161Phe)
c.9623C>T (p.Ser3208Phe)
c.9572C>T (p.Ser3191Phe)
c.9569C>T (p.Ser3190Phe)
dbSNP
1g.21841186G>CCA338914179HSPG2c.9428C>G (p.Ser3143Cys)
c.9431C>G (p.Ser3144Cys)
c.9974C>G (p.Ser3325Cys)
c.9926C>G (p.Ser3309Cys)
c.9905C>G (p.Ser3302Cys)
c.9977C>G (p.Ser3326Cys)
c.9698C>G (p.Ser3233Cys)
c.9482C>G (p.Ser3161Cys)
c.9623C>G (p.Ser3208Cys)
c.9572C>G (p.Ser3191Cys)
c.9569C>G (p.Ser3190Cys)
1g.21841186G=CA1158133661HSPG2c.9428C= (p.Ser3143=)
c.9431C= (p.Ser3144=)
c.9974C= (p.Ser3325=)
c.9926C= (p.Ser3309=)
c.9905C= (p.Ser3302=)
c.9977C= (p.Ser3326=)
c.9698C= (p.Ser3233=)
c.9482C= (p.Ser3161=)
c.9623C= (p.Ser3208=)
c.9572C= (p.Ser3191=)
c.9569C= (p.Ser3190=)
1g.21841186G>TCA338914181HSPG2c.9428C>A (p.Ser3143Tyr)
c.9431C>A (p.Ser3144Tyr)
c.9974C>A (p.Ser3325Tyr)
c.9926C>A (p.Ser3309Tyr)
c.9905C>A (p.Ser3302Tyr)
c.9977C>A (p.Ser3326Tyr)
c.9698C>A (p.Ser3233Tyr)
c.9482C>A (p.Ser3161Tyr)
c.9623C>A (p.Ser3208Tyr)
c.9572C>A (p.Ser3191Tyr)
c.9569C>A (p.Ser3190Tyr)
gnomAD v4
1g.21841187A>CCA338914183HSPG2c.9427T>G (p.Ser3143Ala)
c.9430T>G (p.Ser3144Ala)
c.9973T>G (p.Ser3325Ala)
c.9925T>G (p.Ser3309Ala)
c.9904T>G (p.Ser3302Ala)
c.9976T>G (p.Ser3326Ala)
c.9697T>G (p.Ser3233Ala)
c.9481T>G (p.Ser3161Ala)
c.9622T>G (p.Ser3208Ala)
c.9571T>G (p.Ser3191Ala)
c.9568T>G (p.Ser3190Ala)
1g.21841187A>GCA338914184HSPG2c.9427T>C (p.Ser3143Pro)
c.9430T>C (p.Ser3144Pro)
c.9973T>C (p.Ser3325Pro)
c.9925T>C (p.Ser3309Pro)
c.9904T>C (p.Ser3302Pro)
c.9976T>C (p.Ser3326Pro)
c.9697T>C (p.Ser3233Pro)
c.9481T>C (p.Ser3161Pro)
c.9622T>C (p.Ser3208Pro)
c.9571T>C (p.Ser3191Pro)
c.9568T>C (p.Ser3190Pro)
1g.21841187A>TCA338914182HSPG2c.9427T>A (p.Ser3143Thr)
c.9430T>A (p.Ser3144Thr)
c.9973T>A (p.Ser3325Thr)
c.9925T>A (p.Ser3309Thr)
c.9904T>A (p.Ser3302Thr)
c.9976T>A (p.Ser3326Thr)
c.9697T>A (p.Ser3233Thr)
c.9481T>A (p.Ser3161Thr)
c.9622T>A (p.Ser3208Thr)
c.9571T>A (p.Ser3191Thr)
c.9568T>A (p.Ser3190Thr)
1g.21841188G>ACA670449HSPG2c.9426C>T (p.Ser3142=)
c.9429C>T (p.Ser3143=)
c.9972C>T (p.Ser3324=)
c.9924C>T (p.Ser3308=)
c.9903C>T (p.Ser3301=)
c.9975C>T (p.Ser3325=)
c.9696C>T (p.Ser3232=)
c.9480C>T (p.Ser3160=)
c.9621C>T (p.Ser3207=)
c.9570C>T (p.Ser3190=)
c.9567C>T (p.Ser3189=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21841188G>CCA416547398HSPG2c.9426C>G (p.Ser3142=)
c.9429C>G (p.Ser3143=)
c.9972C>G (p.Ser3324=)
c.9924C>G (p.Ser3308=)
c.9903C>G (p.Ser3301=)
c.9975C>G (p.Ser3325=)
c.9696C>G (p.Ser3232=)
c.9480C>G (p.Ser3160=)
c.9621C>G (p.Ser3207=)
c.9570C>G (p.Ser3190=)
c.9567C>G (p.Ser3189=)
1g.21841188G=CA1143740333HSPG2c.9426C= (p.Ser3142=)
c.9429C= (p.Ser3143=)
c.9972C= (p.Ser3324=)
c.9924C= (p.Ser3308=)
c.9903C= (p.Ser3301=)
c.9975C= (p.Ser3325=)
c.9696C= (p.Ser3232=)
c.9480C= (p.Ser3160=)
c.9621C= (p.Ser3207=)
c.9570C= (p.Ser3190=)
c.9567C= (p.Ser3189=)
1g.21841188G>TCA416547396HSPG2c.9426C>A (p.Ser3142=)
c.9429C>A (p.Ser3143=)
c.9972C>A (p.Ser3324=)
c.9924C>A (p.Ser3308=)
c.9903C>A (p.Ser3301=)
c.9975C>A (p.Ser3325=)
c.9696C>A (p.Ser3232=)
c.9480C>A (p.Ser3160=)
c.9621C>A (p.Ser3207=)
c.9570C>A (p.Ser3190=)
c.9567C>A (p.Ser3189=)
1g.21841189G>ACA338914188HSPG2c.9425C>T (p.Ser3142Phe)
c.9428C>T (p.Ser3143Phe)
c.9971C>T (p.Ser3324Phe)
c.9923C>T (p.Ser3308Phe)
c.9902C>T (p.Ser3301Phe)
c.9974C>T (p.Ser3325Phe)
c.9695C>T (p.Ser3232Phe)
c.9479C>T (p.Ser3160Phe)
c.9620C>T (p.Ser3207Phe)
c.9569C>T (p.Ser3190Phe)
c.9566C>T (p.Ser3189Phe)
dbSNP gnomAD v2 gnomAD v4
1g.21841189G>CCA338914189HSPG2c.9425C>G (p.Ser3142Cys)
c.9428C>G (p.Ser3143Cys)
c.9971C>G (p.Ser3324Cys)
c.9923C>G (p.Ser3308Cys)
c.9902C>G (p.Ser3301Cys)
c.9974C>G (p.Ser3325Cys)
c.9695C>G (p.Ser3232Cys)
c.9479C>G (p.Ser3160Cys)
c.9620C>G (p.Ser3207Cys)
c.9569C>G (p.Ser3190Cys)
c.9566C>G (p.Ser3189Cys)
1g.21841189G=CA1158133662HSPG2c.9425C= (p.Ser3142=)
c.9428C= (p.Ser3143=)
c.9971C= (p.Ser3324=)
c.9923C= (p.Ser3308=)
c.9902C= (p.Ser3301=)
c.9974C= (p.Ser3325=)
c.9695C= (p.Ser3232=)
c.9479C= (p.Ser3160=)
c.9620C= (p.Ser3207=)
c.9569C= (p.Ser3190=)
c.9566C= (p.Ser3189=)
1g.21841189G>TCA338914191HSPG2c.9425C>A (p.Ser3142Tyr)
c.9428C>A (p.Ser3143Tyr)
c.9971C>A (p.Ser3324Tyr)
c.9923C>A (p.Ser3308Tyr)
c.9902C>A (p.Ser3301Tyr)
c.9974C>A (p.Ser3325Tyr)
c.9695C>A (p.Ser3232Tyr)
c.9479C>A (p.Ser3160Tyr)
c.9620C>A (p.Ser3207Tyr)
c.9569C>A (p.Ser3190Tyr)
c.9566C>A (p.Ser3189Tyr)
dbSNP
1g.21841190A=CA1158133663HSPG2c.9424T= (p.Ser3142=)
c.9427T= (p.Ser3143=)
c.9970T= (p.Ser3324=)
c.9922T= (p.Ser3308=)
c.9901T= (p.Ser3301=)
c.9973T= (p.Ser3325=)
c.9694T= (p.Ser3232=)
c.9478T= (p.Ser3160=)
c.9619T= (p.Ser3207=)
c.9568T= (p.Ser3190=)
c.9565T= (p.Ser3189=)
1g.21841190A>CCA338914197HSPG2c.9424T>G (p.Ser3142Ala)
c.9427T>G (p.Ser3143Ala)
c.9970T>G (p.Ser3324Ala)
c.9922T>G (p.Ser3308Ala)
c.9901T>G (p.Ser3301Ala)
c.9973T>G (p.Ser3325Ala)
c.9694T>G (p.Ser3232Ala)
c.9478T>G (p.Ser3160Ala)
c.9619T>G (p.Ser3207Ala)
c.9568T>G (p.Ser3190Ala)
c.9565T>G (p.Ser3189Ala)
1g.21841190A>GCA338914195HSPG2c.9424T>C (p.Ser3142Pro)
c.9427T>C (p.Ser3143Pro)
c.9970T>C (p.Ser3324Pro)
c.9922T>C (p.Ser3308Pro)
c.9901T>C (p.Ser3301Pro)
c.9973T>C (p.Ser3325Pro)
c.9694T>C (p.Ser3232Pro)
c.9478T>C (p.Ser3160Pro)
c.9619T>C (p.Ser3207Pro)
c.9568T>C (p.Ser3190Pro)
c.9565T>C (p.Ser3189Pro)
dbSNP gnomAD v3 gnomAD v4
1g.21841190A>TCA338914194HSPG2c.9424T>A (p.Ser3142Thr)
c.9427T>A (p.Ser3143Thr)
c.9970T>A (p.Ser3324Thr)
c.9922T>A (p.Ser3308Thr)
c.9901T>A (p.Ser3301Thr)
c.9973T>A (p.Ser3325Thr)
c.9694T>A (p.Ser3232Thr)
c.9478T>A (p.Ser3160Thr)
c.9619T>A (p.Ser3207Thr)
c.9568T>A (p.Ser3190Thr)
c.9565T>A (p.Ser3189Thr)
1g.21841191G>ACA416547401HSPG2c.9423C>T (p.Arg3141=)
c.9426C>T (p.Arg3142=)
c.9969C>T (p.Arg3323=)
c.9921C>T (p.Arg3307=)
c.9900C>T (p.Arg3300=)
c.9972C>T (p.Arg3324=)
c.9693C>T (p.Arg3231=)
c.9477C>T (p.Arg3159=)
c.9618C>T (p.Arg3206=)
c.9567C>T (p.Arg3189=)
c.9564C>T (p.Arg3188=)
dbSNP gnomAD v4
1g.21841191G>CCA416547400HSPG2c.9423C>G (p.Arg3141=)
c.9426C>G (p.Arg3142=)
c.9969C>G (p.Arg3323=)
c.9921C>G (p.Arg3307=)
c.9900C>G (p.Arg3300=)
c.9972C>G (p.Arg3324=)
c.9693C>G (p.Arg3231=)
c.9477C>G (p.Arg3159=)
c.9618C>G (p.Arg3206=)
c.9567C>G (p.Arg3189=)
c.9564C>G (p.Arg3188=)
1g.21841191G=CA1158133664HSPG2c.9423C= (p.Arg3141=)
c.9426C= (p.Arg3142=)
c.9969C= (p.Arg3323=)
c.9921C= (p.Arg3307=)
c.9900C= (p.Arg3300=)
c.9972C= (p.Arg3324=)
c.9693C= (p.Arg3231=)
c.9477C= (p.Arg3159=)
c.9618C= (p.Arg3206=)
c.9567C= (p.Arg3189=)
c.9564C= (p.Arg3188=)
1g.21841191G>TCA416547399HSPG2c.9423C>A (p.Arg3141=)
c.9426C>A (p.Arg3142=)
c.9969C>A (p.Arg3323=)
c.9921C>A (p.Arg3307=)
c.9900C>A (p.Arg3300=)
c.9972C>A (p.Arg3324=)
c.9693C>A (p.Arg3231=)
c.9477C>A (p.Arg3159=)
c.9618C>A (p.Arg3206=)
c.9567C>A (p.Arg3189=)
c.9564C>A (p.Arg3188=)
1g.21841192C>ACA338914200HSPG2c.9422G>T (p.Arg3141Leu)
c.9425G>T (p.Arg3142Leu)
c.9968G>T (p.Arg3323Leu)
c.9920G>T (p.Arg3307Leu)
c.9899G>T (p.Arg3300Leu)
c.9971G>T (p.Arg3324Leu)
c.9692G>T (p.Arg3231Leu)
c.9476G>T (p.Arg3159Leu)
c.9617G>T (p.Arg3206Leu)
c.9566G>T (p.Arg3189Leu)
c.9563G>T (p.Arg3188Leu)
dbSNP
1g.21841192C=CA1148478422HSPG2c.9422G= (p.Arg3141=)
c.9425G= (p.Arg3142=)
c.9968G= (p.Arg3323=)
c.9920G= (p.Arg3307=)
c.9899G= (p.Arg3300=)
c.9971G= (p.Arg3324=)
c.9692G= (p.Arg3231=)
c.9476G= (p.Arg3159=)
c.9617G= (p.Arg3206=)
c.9566G= (p.Arg3189=)
c.9563G= (p.Arg3188=)
1g.21841192C>GCA338914201HSPG2c.9422G>C (p.Arg3141Pro)
c.9425G>C (p.Arg3142Pro)
c.9968G>C (p.Arg3323Pro)
c.9920G>C (p.Arg3307Pro)
c.9899G>C (p.Arg3300Pro)
c.9971G>C (p.Arg3324Pro)
c.9692G>C (p.Arg3231Pro)
c.9476G>C (p.Arg3159Pro)
c.9617G>C (p.Arg3206Pro)
c.9566G>C (p.Arg3189Pro)
c.9563G>C (p.Arg3188Pro)
1g.21841192C>TCA670450HSPG2c.9422G>A (p.Arg3141His)
c.9425G>A (p.Arg3142His)
c.9968G>A (p.Arg3323His)
c.9920G>A (p.Arg3307His)
c.9899G>A (p.Arg3300His)
c.9971G>A (p.Arg3324His)
c.9692G>A (p.Arg3231His)
c.9476G>A (p.Arg3159His)
c.9617G>A (p.Arg3206His)
c.9566G>A (p.Arg3189His)
c.9563G>A (p.Arg3188His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.21841193G>ACA670451HSPG2c.9421C>T (p.Arg3141Cys)
c.9424C>T (p.Arg3142Cys)
c.9967C>T (p.Arg3323Cys)
c.9919C>T (p.Arg3307Cys)
c.9898C>T (p.Arg3300Cys)
c.9970C>T (p.Arg3324Cys)
c.9691C>T (p.Arg3231Cys)
c.9475C>T (p.Arg3159Cys)
c.9616C>T (p.Arg3206Cys)
c.9565C>T (p.Arg3189Cys)
c.9562C>T (p.Arg3188Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21841193G>CCA338914206HSPG2c.9421C>G (p.Arg3141Gly)
c.9424C>G (p.Arg3142Gly)
c.9967C>G (p.Arg3323Gly)
c.9919C>G (p.Arg3307Gly)
c.9898C>G (p.Arg3300Gly)
c.9970C>G (p.Arg3324Gly)
c.9691C>G (p.Arg3231Gly)
c.9475C>G (p.Arg3159Gly)
c.9616C>G (p.Arg3206Gly)
c.9565C>G (p.Arg3189Gly)
c.9562C>G (p.Arg3188Gly)
gnomAD v4
1g.21841193G=CA1146738609HSPG2c.9421C= (p.Arg3141=)
c.9424C= (p.Arg3142=)
c.9967C= (p.Arg3323=)
c.9919C= (p.Arg3307=)
c.9898C= (p.Arg3300=)
c.9970C= (p.Arg3324=)
c.9691C= (p.Arg3231=)
c.9475C= (p.Arg3159=)
c.9616C= (p.Arg3206=)
c.9565C= (p.Arg3189=)
c.9562C= (p.Arg3188=)
1g.21841193G>TCA338914207HSPG2c.9421C>A (p.Arg3141Ser)
c.9424C>A (p.Arg3142Ser)
c.9967C>A (p.Arg3323Ser)
c.9919C>A (p.Arg3307Ser)
c.9898C>A (p.Arg3300Ser)
c.9970C>A (p.Arg3324Ser)
c.9691C>A (p.Arg3231Ser)
c.9475C>A (p.Arg3159Ser)
c.9616C>A (p.Arg3206Ser)
c.9565C>A (p.Arg3189Ser)
c.9562C>A (p.Arg3188Ser)
1g.21841194G>ACA416547403HSPG2c.9420C>T (p.Pro3140=)
c.9423C>T (p.Pro3141=)
c.9966C>T (p.Pro3322=)
c.9918C>T (p.Pro3306=)
c.9897C>T (p.Pro3299=)
c.9969C>T (p.Pro3323=)
c.9690C>T (p.Pro3230=)
c.9474C>T (p.Pro3158=)
c.9615C>T (p.Pro3205=)
c.9564C>T (p.Pro3188=)
c.9561C>T (p.Pro3187=)
1g.21841194G>CCA416547402HSPG2c.9420C>G (p.Pro3140=)
c.9423C>G (p.Pro3141=)
c.9966C>G (p.Pro3322=)
c.9918C>G (p.Pro3306=)
c.9897C>G (p.Pro3299=)
c.9969C>G (p.Pro3323=)
c.9690C>G (p.Pro3230=)
c.9474C>G (p.Pro3158=)
c.9615C>G (p.Pro3205=)
c.9564C>G (p.Pro3188=)
c.9561C>G (p.Pro3187=)
1g.21841194G>TCA416547404HSPG2c.9420C>A (p.Pro3140=)
c.9423C>A (p.Pro3141=)
c.9966C>A (p.Pro3322=)
c.9918C>A (p.Pro3306=)
c.9897C>A (p.Pro3299=)
c.9969C>A (p.Pro3323=)
c.9690C>A (p.Pro3230=)
c.9474C>A (p.Pro3158=)
c.9615C>A (p.Pro3205=)
c.9564C>A (p.Pro3188=)
c.9561C>A (p.Pro3187=)
1g.21841195G>ACA338914209HSPG2c.9419C>T (p.Pro3140Leu)
c.9422C>T (p.Pro3141Leu)
c.9965C>T (p.Pro3322Leu)
c.9917C>T (p.Pro3306Leu)
c.9896C>T (p.Pro3299Leu)
c.9968C>T (p.Pro3323Leu)
c.9689C>T (p.Pro3230Leu)
c.9473C>T (p.Pro3158Leu)
c.9614C>T (p.Pro3205Leu)
c.9563C>T (p.Pro3188Leu)
c.9560C>T (p.Pro3187Leu)
1g.21841195G>CCA338914212HSPG2c.9419C>G (p.Pro3140Arg)
c.9422C>G (p.Pro3141Arg)
c.9965C>G (p.Pro3322Arg)
c.9917C>G (p.Pro3306Arg)
c.9896C>G (p.Pro3299Arg)
c.9968C>G (p.Pro3323Arg)
c.9689C>G (p.Pro3230Arg)
c.9473C>G (p.Pro3158Arg)
c.9614C>G (p.Pro3205Arg)
c.9563C>G (p.Pro3188Arg)
c.9560C>G (p.Pro3187Arg)
1g.21841195G>TCA338914210HSPG2c.9419C>A (p.Pro3140His)
c.9422C>A (p.Pro3141His)
c.9965C>A (p.Pro3322His)
c.9917C>A (p.Pro3306His)
c.9896C>A (p.Pro3299His)
c.9968C>A (p.Pro3323His)
c.9689C>A (p.Pro3230His)
c.9473C>A (p.Pro3158His)
c.9614C>A (p.Pro3205His)
c.9563C>A (p.Pro3188His)
c.9560C>A (p.Pro3187His)
1g.21841196G>ACA338914215HSPG2c.9418C>T (p.Pro3140Ser)
c.9421C>T (p.Pro3141Ser)
c.9964C>T (p.Pro3322Ser)
c.9916C>T (p.Pro3306Ser)
c.9895C>T (p.Pro3299Ser)
c.9967C>T (p.Pro3323Ser)
c.9688C>T (p.Pro3230Ser)
c.9472C>T (p.Pro3158Ser)
c.9613C>T (p.Pro3205Ser)
c.9562C>T (p.Pro3188Ser)
c.9559C>T (p.Pro3187Ser)
dbSNP gnomAD v2 gnomAD v4
1g.21841196G>CCA338914218HSPG2c.9418C>G (p.Pro3140Ala)
c.9421C>G (p.Pro3141Ala)
c.9964C>G (p.Pro3322Ala)
c.9916C>G (p.Pro3306Ala)
c.9895C>G (p.Pro3299Ala)
c.9967C>G (p.Pro3323Ala)
c.9688C>G (p.Pro3230Ala)
c.9472C>G (p.Pro3158Ala)
c.9613C>G (p.Pro3205Ala)
c.9562C>G (p.Pro3188Ala)
c.9559C>G (p.Pro3187Ala)
1g.21841196G=CA1158133665HSPG2c.9418C= (p.Pro3140=)
c.9421C= (p.Pro3141=)
c.9964C= (p.Pro3322=)
c.9916C= (p.Pro3306=)
c.9895C= (p.Pro3299=)
c.9967C= (p.Pro3323=)
c.9688C= (p.Pro3230=)
c.9472C= (p.Pro3158=)
c.9613C= (p.Pro3205=)
c.9562C= (p.Pro3188=)
c.9559C= (p.Pro3187=)
1g.21841196G>TCA338914217HSPG2c.9418C>A (p.Pro3140Thr)
c.9421C>A (p.Pro3141Thr)
c.9964C>A (p.Pro3322Thr)
c.9916C>A (p.Pro3306Thr)
c.9895C>A (p.Pro3299Thr)
c.9967C>A (p.Pro3323Thr)
c.9688C>A (p.Pro3230Thr)
c.9472C>A (p.Pro3158Thr)
c.9613C>A (p.Pro3205Thr)
c.9562C>A (p.Pro3188Thr)
c.9559C>A (p.Pro3187Thr)
1g.21841197C>ACA19107042HSPG2c.9417G>T (p.Glu3139Asp)
c.9420G>T (p.Glu3140Asp)
c.9963G>T (p.Glu3321Asp)
c.9915G>T (p.Glu3305Asp)
c.9894G>T (p.Glu3298Asp)
c.9966G>T (p.Glu3322Asp)
c.9687G>T (p.Glu3229Asp)
c.9471G>T (p.Glu3157Asp)
c.9612G>T (p.Glu3204Asp)
c.9561G>T (p.Glu3187Asp)
c.9558G>T (p.Glu3186Asp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21841197C=CA1158133666HSPG2c.9417G= (p.Glu3139=)
c.9420G= (p.Glu3140=)
c.9963G= (p.Glu3321=)
c.9915G= (p.Glu3305=)
c.9894G= (p.Glu3298=)
c.9966G= (p.Glu3322=)
c.9687G= (p.Glu3229=)
c.9471G= (p.Glu3157=)
c.9612G= (p.Glu3204=)
c.9561G= (p.Glu3187=)
c.9558G= (p.Glu3186=)
1g.21841197C>GCA338914222HSPG2c.9417G>C (p.Glu3139Asp)
c.9420G>C (p.Glu3140Asp)
c.9963G>C (p.Glu3321Asp)
c.9915G>C (p.Glu3305Asp)
c.9894G>C (p.Glu3298Asp)
c.9966G>C (p.Glu3322Asp)
c.9687G>C (p.Glu3229Asp)
c.9471G>C (p.Glu3157Asp)
c.9612G>C (p.Glu3204Asp)
c.9561G>C (p.Glu3187Asp)
c.9558G>C (p.Glu3186Asp)
1g.21841197C>TCA416547406HSPG2c.9417G>A (p.Glu3139=)
c.9420G>A (p.Glu3140=)
c.9963G>A (p.Glu3321=)
c.9915G>A (p.Glu3305=)
c.9894G>A (p.Glu3298=)
c.9966G>A (p.Glu3322=)
c.9687G>A (p.Glu3229=)
c.9471G>A (p.Glu3157=)
c.9612G>A (p.Glu3204=)
c.9561G>A (p.Glu3187=)
c.9558G>A (p.Glu3186=)
1g.21841198T>ACA338914224HSPG2c.9416A>T (p.Glu3139Val)
c.9419A>T (p.Glu3140Val)
c.9962A>T (p.Glu3321Val)
c.9914A>T (p.Glu3305Val)
c.9893A>T (p.Glu3298Val)
c.9965A>T (p.Glu3322Val)
c.9686A>T (p.Glu3229Val)
c.9470A>T (p.Glu3157Val)
c.9611A>T (p.Glu3204Val)
c.9560A>T (p.Glu3187Val)
c.9557A>T (p.Glu3186Val)
1g.21841198T>CCA670452HSPG2c.9416A>G (p.Glu3139Gly)
c.9419A>G (p.Glu3140Gly)
c.9962A>G (p.Glu3321Gly)
c.9914A>G (p.Glu3305Gly)
c.9893A>G (p.Glu3298Gly)
c.9965A>G (p.Glu3322Gly)
c.9686A>G (p.Glu3229Gly)
c.9470A>G (p.Glu3157Gly)
c.9611A>G (p.Glu3204Gly)
c.9560A>G (p.Glu3187Gly)
c.9557A>G (p.Glu3186Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.21841198T>GCA338914226HSPG2c.9416A>C (p.Glu3139Ala)
c.9419A>C (p.Glu3140Ala)
c.9962A>C (p.Glu3321Ala)
c.9914A>C (p.Glu3305Ala)
c.9893A>C (p.Glu3298Ala)
c.9965A>C (p.Glu3322Ala)
c.9686A>C (p.Glu3229Ala)
c.9470A>C (p.Glu3157Ala)
c.9611A>C (p.Glu3204Ala)
c.9560A>C (p.Glu3187Ala)
c.9557A>C (p.Glu3186Ala)
1g.21841198T=CA1143944884HSPG2c.9416A= (p.Glu3139=)
c.9419A= (p.Glu3140=)
c.9962A= (p.Glu3321=)
c.9914A= (p.Glu3305=)
c.9893A= (p.Glu3298=)
c.9965A= (p.Glu3322=)
c.9686A= (p.Glu3229=)
c.9470A= (p.Glu3157=)
c.9611A= (p.Glu3204=)
c.9560A= (p.Glu3187=)
c.9557A= (p.Glu3186=)
1g.21841199C>ACA338914228HSPG2c.9415G>T (p.Glu3139Ter)
c.9418G>T (p.Glu3140Ter)
c.9961G>T (p.Glu3321Ter)
c.9913G>T (p.Glu3305Ter)
c.9892G>T (p.Glu3298Ter)
c.9964G>T (p.Glu3322Ter)
c.9685G>T (p.Glu3229Ter)
c.9469G>T (p.Glu3157Ter)
c.9610G>T (p.Glu3204Ter)
c.9559G>T (p.Glu3187Ter)
c.9556G>T (p.Glu3186Ter)
1g.21841199C>GCA338914229HSPG2c.9415G>C (p.Glu3139Gln)
c.9418G>C (p.Glu3140Gln)
c.9961G>C (p.Glu3321Gln)
c.9913G>C (p.Glu3305Gln)
c.9892G>C (p.Glu3298Gln)
c.9964G>C (p.Glu3322Gln)
c.9685G>C (p.Glu3229Gln)
c.9469G>C (p.Glu3157Gln)
c.9610G>C (p.Glu3204Gln)
c.9559G>C (p.Glu3187Gln)
c.9556G>C (p.Glu3186Gln)
gnomAD v4
1g.21841199C>TCA338914231HSPG2c.9415G>A (p.Glu3139Lys)
c.9418G>A (p.Glu3140Lys)
c.9961G>A (p.Glu3321Lys)
c.9913G>A (p.Glu3305Lys)
c.9892G>A (p.Glu3298Lys)
c.9964G>A (p.Glu3322Lys)
c.9685G>A (p.Glu3229Lys)
c.9469G>A (p.Glu3157Lys)
c.9610G>A (p.Glu3204Lys)
c.9559G>A (p.Glu3187Lys)
c.9556G>A (p.Glu3186Lys)
1g.21841200C>ACA416547408HSPG2c.9414G>T (p.Gly3138=)
c.9417G>T (p.Gly3139=)
c.9960G>T (p.Gly3320=)
c.9912G>T (p.Gly3304=)
c.9891G>T (p.Gly3297=)
c.9963G>T (p.Gly3321=)
c.9684G>T (p.Gly3228=)
c.9468G>T (p.Gly3156=)
c.9609G>T (p.Gly3203=)
c.9558G>T (p.Gly3186=)
c.9555G>T (p.Gly3185=)
1g.21841200C=CA1144158227HSPG2c.9414G= (p.Gly3138=)
c.9417G= (p.Gly3139=)
c.9960G= (p.Gly3320=)
c.9912G= (p.Gly3304=)
c.9891G= (p.Gly3297=)
c.9963G= (p.Gly3321=)
c.9684G= (p.Gly3228=)
c.9468G= (p.Gly3156=)
c.9609G= (p.Gly3203=)
c.9558G= (p.Gly3186=)
c.9555G= (p.Gly3185=)
1g.21841200C>GCA416547407HSPG2c.9414G>C (p.Gly3138=)
c.9417G>C (p.Gly3139=)
c.9960G>C (p.Gly3320=)
c.9912G>C (p.Gly3304=)
c.9891G>C (p.Gly3297=)
c.9963G>C (p.Gly3321=)
c.9684G>C (p.Gly3228=)
c.9468G>C (p.Gly3156=)
c.9609G>C (p.Gly3203=)
c.9558G>C (p.Gly3186=)
c.9555G>C (p.Gly3185=)
1g.21841200C>TCA670453HSPG2c.9414G>A (p.Gly3138=)
c.9417G>A (p.Gly3139=)
c.9960G>A (p.Gly3320=)
c.9912G>A (p.Gly3304=)
c.9891G>A (p.Gly3297=)
c.9963G>A (p.Gly3321=)
c.9684G>A (p.Gly3228=)
c.9468G>A (p.Gly3156=)
c.9609G>A (p.Gly3203=)
c.9558G>A (p.Gly3186=)
c.9555G>A (p.Gly3185=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21841201C>ACA338914235HSPG2c.9413G>T (p.Gly3138Val)
c.9416G>T (p.Gly3139Val)
c.9959G>T (p.Gly3320Val)
c.9911G>T (p.Gly3304Val)
c.9890G>T (p.Gly3297Val)
c.9962G>T (p.Gly3321Val)
c.9683G>T (p.Gly3228Val)
c.9467G>T (p.Gly3156Val)
c.9608G>T (p.Gly3203Val)
c.9557G>T (p.Gly3186Val)
c.9554G>T (p.Gly3185Val)
1g.21841201C>GCA338914238HSPG2c.9413G>C (p.Gly3138Ala)
c.9416G>C (p.Gly3139Ala)
c.9959G>C (p.Gly3320Ala)
c.9911G>C (p.Gly3304Ala)
c.9890G>C (p.Gly3297Ala)
c.9962G>C (p.Gly3321Ala)
c.9683G>C (p.Gly3228Ala)
c.9467G>C (p.Gly3156Ala)
c.9608G>C (p.Gly3203Ala)
c.9557G>C (p.Gly3186Ala)
c.9554G>C (p.Gly3185Ala)
1g.21841201C>TCA338914236HSPG2c.9413G>A (p.Gly3138Glu)
c.9416G>A (p.Gly3139Glu)
c.9959G>A (p.Gly3320Glu)
c.9911G>A (p.Gly3304Glu)
c.9890G>A (p.Gly3297Glu)
c.9962G>A (p.Gly3321Glu)
c.9683G>A (p.Gly3228Glu)
c.9467G>A (p.Gly3156Glu)
c.9608G>A (p.Gly3203Glu)
c.9557G>A (p.Gly3186Glu)
c.9554G>A (p.Gly3185Glu)
1g.21841202C>ACA338914241HSPG2c.9412G>T (p.Gly3138Trp)
c.9415G>T (p.Gly3139Trp)
c.9958G>T (p.Gly3320Trp)
c.9910G>T (p.Gly3304Trp)
c.9889G>T (p.Gly3297Trp)
c.9961G>T (p.Gly3321Trp)
c.9682G>T (p.Gly3228Trp)
c.9466G>T (p.Gly3156Trp)
c.9607G>T (p.Gly3203Trp)
c.9556G>T (p.Gly3186Trp)
c.9553G>T (p.Gly3185Trp)
1g.21841202C=CA1143516859HSPG2c.9412G= (p.Gly3138=)
c.9415G= (p.Gly3139=)
c.9958G= (p.Gly3320=)
c.9910G= (p.Gly3304=)
c.9889G= (p.Gly3297=)
c.9961G= (p.Gly3321=)
c.9682G= (p.Gly3228=)
c.9466G= (p.Gly3156=)
c.9607G= (p.Gly3203=)
c.9556G= (p.Gly3186=)
c.9553G= (p.Gly3185=)
1g.21841202C>GCA670455HSPG2c.9412G>C (p.Gly3138Arg)
c.9415G>C (p.Gly3139Arg)
c.9958G>C (p.Gly3320Arg)
c.9910G>C (p.Gly3304Arg)
c.9889G>C (p.Gly3297Arg)
c.9961G>C (p.Gly3321Arg)
c.9682G>C (p.Gly3228Arg)
c.9466G>C (p.Gly3156Arg)
c.9607G>C (p.Gly3203Arg)
c.9556G>C (p.Gly3186Arg)
c.9553G>C (p.Gly3185Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.21841202C>TCA670454HSPG2c.9412G>A (p.Gly3138Arg)
c.9415G>A (p.Gly3139Arg)
c.9958G>A (p.Gly3320Arg)
c.9910G>A (p.Gly3304Arg)
c.9889G>A (p.Gly3297Arg)
c.9961G>A (p.Gly3321Arg)
c.9682G>A (p.Gly3228Arg)
c.9466G>A (p.Gly3156Arg)
c.9607G>A (p.Gly3203Arg)
c.9556G>A (p.Gly3186Arg)
c.9553G>A (p.Gly3185Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.21841203G>ACA670456HSPG2c.9411C>T (p.Ala3137=)
c.9414C>T (p.Ala3138=)
c.9957C>T (p.Ala3319=)
c.9909C>T (p.Ala3303=)
c.9888C>T (p.Ala3296=)
c.9960C>T (p.Ala3320=)
c.9681C>T (p.Ala3227=)
c.9465C>T (p.Ala3155=)
c.9606C>T (p.Ala3202=)
c.9555C>T (p.Ala3185=)
c.9552C>T (p.Ala3184=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21841203G>CCA416547410HSPG2c.9411C>G (p.Ala3137=)
c.9414C>G (p.Ala3138=)
c.9957C>G (p.Ala3319=)
c.9909C>G (p.Ala3303=)
c.9888C>G (p.Ala3296=)
c.9960C>G (p.Ala3320=)
c.9681C>G (p.Ala3227=)
c.9465C>G (p.Ala3155=)
c.9606C>G (p.Ala3202=)
c.9555C>G (p.Ala3185=)
c.9552C>G (p.Ala3184=)
1g.21841203G=CA1144734684HSPG2c.9411C= (p.Ala3137=)
c.9414C= (p.Ala3138=)
c.9957C= (p.Ala3319=)
c.9909C= (p.Ala3303=)
c.9888C= (p.Ala3296=)
c.9960C= (p.Ala3320=)
c.9681C= (p.Ala3227=)
c.9465C= (p.Ala3155=)
c.9606C= (p.Ala3202=)
c.9555C= (p.Ala3185=)
c.9552C= (p.Ala3184=)
1g.21841203G>TCA416547409HSPG2c.9411C>A (p.Ala3137=)
c.9414C>A (p.Ala3138=)
c.9957C>A (p.Ala3319=)
c.9909C>A (p.Ala3303=)
c.9888C>A (p.Ala3296=)
c.9960C>A (p.Ala3320=)
c.9681C>A (p.Ala3227=)
c.9465C>A (p.Ala3155=)
c.9606C>A (p.Ala3202=)
c.9555C>A (p.Ala3185=)
c.9552C>A (p.Ala3184=)
1g.21841204G>ACA338914245HSPG2c.9410C>T (p.Ala3137Val)
c.9413C>T (p.Ala3138Val)
c.9956C>T (p.Ala3319Val)
c.9908C>T (p.Ala3303Val)
c.9887C>T (p.Ala3296Val)
c.9959C>T (p.Ala3320Val)
c.9680C>T (p.Ala3227Val)
c.9464C>T (p.Ala3155Val)
c.9605C>T (p.Ala3202Val)
c.9554C>T (p.Ala3185Val)
c.9551C>T (p.Ala3184Val)
gnomAD v4
1g.21841204G>CCA338914248HSPG2c.9410C>G (p.Ala3137Gly)
c.9413C>G (p.Ala3138Gly)
c.9956C>G (p.Ala3319Gly)
c.9908C>G (p.Ala3303Gly)
c.9887C>G (p.Ala3296Gly)
c.9959C>G (p.Ala3320Gly)
c.9680C>G (p.Ala3227Gly)
c.9464C>G (p.Ala3155Gly)
c.9605C>G (p.Ala3202Gly)
c.9554C>G (p.Ala3185Gly)
c.9551C>G (p.Ala3184Gly)
1g.21841204G>TCA338914247HSPG2c.9410C>A (p.Ala3137Asp)
c.9413C>A (p.Ala3138Asp)
c.9956C>A (p.Ala3319Asp)
c.9908C>A (p.Ala3303Asp)
c.9887C>A (p.Ala3296Asp)
c.9959C>A (p.Ala3320Asp)
c.9680C>A (p.Ala3227Asp)
c.9464C>A (p.Ala3155Asp)
c.9605C>A (p.Ala3202Asp)
c.9554C>A (p.Ala3185Asp)
c.9551C>A (p.Ala3184Asp)
1g.21841205C>ACA338914249HSPG2c.9409G>T (p.Ala3137Ser)
c.9412G>T (p.Ala3138Ser)
c.9955G>T (p.Ala3319Ser)
c.9907G>T (p.Ala3303Ser)
c.9886G>T (p.Ala3296Ser)
c.9958G>T (p.Ala3320Ser)
c.9679G>T (p.Ala3227Ser)
c.9463G>T (p.Ala3155Ser)
c.9604G>T (p.Ala3202Ser)
c.9553G>T (p.Ala3185Ser)
c.9550G>T (p.Ala3184Ser)
1g.21841205C=CA1158133667HSPG2c.9409G= (p.Ala3137=)
c.9412G= (p.Ala3138=)
c.9955G= (p.Ala3319=)
c.9907G= (p.Ala3303=)
c.9886G= (p.Ala3296=)
c.9958G= (p.Ala3320=)
c.9679G= (p.Ala3227=)
c.9463G= (p.Ala3155=)
c.9604G= (p.Ala3202=)
c.9553G= (p.Ala3185=)
c.9550G= (p.Ala3184=)
1g.21841205C>GCA338914251HSPG2c.9409G>C (p.Ala3137Pro)
c.9412G>C (p.Ala3138Pro)
c.9955G>C (p.Ala3319Pro)
c.9907G>C (p.Ala3303Pro)
c.9886G>C (p.Ala3296Pro)
c.9958G>C (p.Ala3320Pro)
c.9679G>C (p.Ala3227Pro)
c.9463G>C (p.Ala3155Pro)
c.9604G>C (p.Ala3202Pro)
c.9553G>C (p.Ala3185Pro)
c.9550G>C (p.Ala3184Pro)
gnomAD v4
1g.21841205C>TCA338914253HSPG2c.9409G>A (p.Ala3137Thr)
c.9412G>A (p.Ala3138Thr)
c.9955G>A (p.Ala3319Thr)
c.9907G>A (p.Ala3303Thr)
c.9886G>A (p.Ala3296Thr)
c.9958G>A (p.Ala3320Thr)
c.9679G>A (p.Ala3227Thr)
c.9463G>A (p.Ala3155Thr)
c.9604G>A (p.Ala3202Thr)
c.9553G>A (p.Ala3185Thr)
c.9550G>A (p.Ala3184Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21841206A=CA1158133668HSPG2c.9408T= (p.Ser3136=)
c.9411T= (p.Ser3137=)
c.9954T= (p.Ser3318=)
c.9906T= (p.Ser3302=)
c.9885T= (p.Ser3295=)
c.9957T= (p.Ser3319=)
c.9678T= (p.Ser3226=)
c.9462T= (p.Ser3154=)
c.9603T= (p.Ser3201=)
c.9552T= (p.Ser3184=)
c.9549T= (p.Ser3183=)
1g.21841206A>CCA338914255HSPG2c.9408T>G (p.Ser3136Arg)
c.9411T>G (p.Ser3137Arg)
c.9954T>G (p.Ser3318Arg)
c.9906T>G (p.Ser3302Arg)
c.9885T>G (p.Ser3295Arg)
c.9957T>G (p.Ser3319Arg)
c.9678T>G (p.Ser3226Arg)
c.9462T>G (p.Ser3154Arg)
c.9603T>G (p.Ser3201Arg)
c.9552T>G (p.Ser3184Arg)
c.9549T>G (p.Ser3183Arg)
1g.21841206A>GCA416547411HSPG2c.9408T>C (p.Ser3136=)
c.9411T>C (p.Ser3137=)
c.9954T>C (p.Ser3318=)
c.9906T>C (p.Ser3302=)
c.9885T>C (p.Ser3295=)
c.9957T>C (p.Ser3319=)
c.9678T>C (p.Ser3226=)
c.9462T>C (p.Ser3154=)
c.9603T>C (p.Ser3201=)
c.9552T>C (p.Ser3184=)
c.9549T>C (p.Ser3183=)
gnomAD v4
1g.21841206A>TCA338914257HSPG2c.9408T>A (p.Ser3136Arg)
c.9411T>A (p.Ser3137Arg)
c.9954T>A (p.Ser3318Arg)
c.9906T>A (p.Ser3302Arg)
c.9885T>A (p.Ser3295Arg)
c.9957T>A (p.Ser3319Arg)
c.9678T>A (p.Ser3226Arg)
c.9462T>A (p.Ser3154Arg)
c.9603T>A (p.Ser3201Arg)
c.9552T>A (p.Ser3184Arg)
c.9549T>A (p.Ser3183Arg)
dbSNP
1g.21841207C>ACA338914259HSPG2c.9407G>T (p.Ser3136Ile)
c.9410G>T (p.Ser3137Ile)
c.9953G>T (p.Ser3318Ile)
c.9905G>T (p.Ser3302Ile)
c.9884G>T (p.Ser3295Ile)
c.9956G>T (p.Ser3319Ile)
c.9677G>T (p.Ser3226Ile)
c.9461G>T (p.Ser3154Ile)
c.9602G>T (p.Ser3201Ile)
c.9551G>T (p.Ser3184Ile)
c.9548G>T (p.Ser3183Ile)
1g.21841207C=CA1158133669HSPG2c.9407G= (p.Ser3136=)
c.9410G= (p.Ser3137=)
c.9953G= (p.Ser3318=)
c.9905G= (p.Ser3302=)
c.9884G= (p.Ser3295=)
c.9956G= (p.Ser3319=)
c.9677G= (p.Ser3226=)
c.9461G= (p.Ser3154=)
c.9602G= (p.Ser3201=)
c.9551G= (p.Ser3184=)
c.9548G= (p.Ser3183=)
1g.21841207C>GCA338914261HSPG2c.9407G>C (p.Ser3136Thr)
c.9410G>C (p.Ser3137Thr)
c.9953G>C (p.Ser3318Thr)
c.9905G>C (p.Ser3302Thr)
c.9884G>C (p.Ser3295Thr)
c.9956G>C (p.Ser3319Thr)
c.9677G>C (p.Ser3226Thr)
c.9461G>C (p.Ser3154Thr)
c.9602G>C (p.Ser3201Thr)
c.9551G>C (p.Ser3184Thr)
c.9548G>C (p.Ser3183Thr)
dbSNP gnomAD v3 gnomAD v4
1g.21841207C>TCA338914263HSPG2c.9407G>A (p.Ser3136Asn)
c.9410G>A (p.Ser3137Asn)
c.9953G>A (p.Ser3318Asn)
c.9905G>A (p.Ser3302Asn)
c.9884G>A (p.Ser3295Asn)
c.9956G>A (p.Ser3319Asn)
c.9677G>A (p.Ser3226Asn)
c.9461G>A (p.Ser3154Asn)
c.9602G>A (p.Ser3201Asn)
c.9551G>A (p.Ser3184Asn)
c.9548G>A (p.Ser3183Asn)
1g.21841208T>ACA338914265HSPG2c.9406A>T (p.Ser3136Cys)
c.9409A>T (p.Ser3137Cys)
c.9952A>T (p.Ser3318Cys)
c.9904A>T (p.Ser3302Cys)
c.9883A>T (p.Ser3295Cys)
c.9955A>T (p.Ser3319Cys)
c.9676A>T (p.Ser3226Cys)
c.9460A>T (p.Ser3154Cys)
c.9601A>T (p.Ser3201Cys)
c.9550A>T (p.Ser3184Cys)
c.9547A>T (p.Ser3183Cys)
1g.21841208T>CCA670457HSPG2c.9406A>G (p.Ser3136Gly)
c.9409A>G (p.Ser3137Gly)
c.9952A>G (p.Ser3318Gly)
c.9904A>G (p.Ser3302Gly)
c.9883A>G (p.Ser3295Gly)
c.9955A>G (p.Ser3319Gly)
c.9676A>G (p.Ser3226Gly)
c.9460A>G (p.Ser3154Gly)
c.9601A>G (p.Ser3201Gly)
c.9550A>G (p.Ser3184Gly)
c.9547A>G (p.Ser3183Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.21841208T>GCA338914268HSPG2c.9406A>C (p.Ser3136Arg)
c.9409A>C (p.Ser3137Arg)
c.9952A>C (p.Ser3318Arg)
c.9904A>C (p.Ser3302Arg)
c.9883A>C (p.Ser3295Arg)
c.9955A>C (p.Ser3319Arg)
c.9676A>C (p.Ser3226Arg)
c.9460A>C (p.Ser3154Arg)
c.9601A>C (p.Ser3201Arg)
c.9550A>C (p.Ser3184Arg)
c.9547A>C (p.Ser3183Arg)
1g.21841208T=CA1158133670HSPG2c.9406A= (p.Ser3136=)
c.9409A= (p.Ser3137=)
c.9952A= (p.Ser3318=)
c.9904A= (p.Ser3302=)
c.9883A= (p.Ser3295=)
c.9955A= (p.Ser3319=)
c.9676A= (p.Ser3226=)
c.9460A= (p.Ser3154=)
c.9601A= (p.Ser3201=)
c.9550A= (p.Ser3184=)
c.9547A= (p.Ser3183=)
1g.21841209G>ACA416547412HSPG2c.9405C>T (p.Val3135=)
c.9408C>T (p.Val3136=)
c.9951C>T (p.Val3317=)
c.9903C>T (p.Val3301=)
c.9882C>T (p.Val3294=)
c.9954C>T (p.Val3318=)
c.9675C>T (p.Val3225=)
c.9459C>T (p.Val3153=)
c.9600C>T (p.Val3200=)
c.9549C>T (p.Val3183=)
c.9546C>T (p.Val3182=)
1g.21841209G>CCA416547414HSPG2c.9405C>G (p.Val3135=)
c.9408C>G (p.Val3136=)
c.9951C>G (p.Val3317=)
c.9903C>G (p.Val3301=)
c.9882C>G (p.Val3294=)
c.9954C>G (p.Val3318=)
c.9675C>G (p.Val3225=)
c.9459C>G (p.Val3153=)
c.9600C>G (p.Val3200=)
c.9549C>G (p.Val3183=)
c.9546C>G (p.Val3182=)
1g.21841209G>TCA416547413HSPG2c.9405C>A (p.Val3135=)
c.9408C>A (p.Val3136=)
c.9951C>A (p.Val3317=)
c.9903C>A (p.Val3301=)
c.9882C>A (p.Val3294=)
c.9954C>A (p.Val3318=)
c.9675C>A (p.Val3225=)
c.9459C>A (p.Val3153=)
c.9600C>A (p.Val3200=)
c.9549C>A (p.Val3183=)
c.9546C>A (p.Val3182=)
1g.21841210A=CA1143770955HSPG2c.9404T= (p.Val3135=)
c.9407T= (p.Val3136=)
c.9950T= (p.Val3317=)
c.9902T= (p.Val3301=)
c.9881T= (p.Val3294=)
c.9953T= (p.Val3318=)
c.9674T= (p.Val3225=)
c.9458T= (p.Val3153=)
c.9599T= (p.Val3200=)
c.9548T= (p.Val3183=)
c.9545T= (p.Val3182=)
1g.21841210A>CCA338914274HSPG2c.9404T>G (p.Val3135Gly)
c.9407T>G (p.Val3136Gly)
c.9950T>G (p.Val3317Gly)
c.9902T>G (p.Val3301Gly)
c.9881T>G (p.Val3294Gly)
c.9953T>G (p.Val3318Gly)
c.9674T>G (p.Val3225Gly)
c.9458T>G (p.Val3153Gly)
c.9599T>G (p.Val3200Gly)
c.9548T>G (p.Val3183Gly)
c.9545T>G (p.Val3182Gly)
1g.21841210A>GCA338914272HSPG2c.9404T>C (p.Val3135Ala)
c.9407T>C (p.Val3136Ala)
c.9950T>C (p.Val3317Ala)
c.9902T>C (p.Val3301Ala)
c.9881T>C (p.Val3294Ala)
c.9953T>C (p.Val3318Ala)
c.9674T>C (p.Val3225Ala)
c.9458T>C (p.Val3153Ala)
c.9599T>C (p.Val3200Ala)
c.9548T>C (p.Val3183Ala)
c.9545T>C (p.Val3182Ala)
1g.21841210A>TCA670458HSPG2c.9404T>A (p.Val3135Asp)
c.9407T>A (p.Val3136Asp)
c.9950T>A (p.Val3317Asp)
c.9902T>A (p.Val3301Asp)
c.9881T>A (p.Val3294Asp)
c.9953T>A (p.Val3318Asp)
c.9674T>A (p.Val3225Asp)
c.9458T>A (p.Val3153Asp)
c.9599T>A (p.Val3200Asp)
c.9548T>A (p.Val3183Asp)
c.9545T>A (p.Val3182Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21841211C>ACA338914280HSPG2c.9403G>T (p.Val3135Phe)
c.9406G>T (p.Val3136Phe)
c.9949G>T (p.Val3317Phe)
c.9901G>T (p.Val3301Phe)
c.9880G>T (p.Val3294Phe)
c.9952G>T (p.Val3318Phe)
c.9673G>T (p.Val3225Phe)
c.9457G>T (p.Val3153Phe)
c.9598G>T (p.Val3200Phe)
c.9547G>T (p.Val3183Phe)
c.9544G>T (p.Val3182Phe)
gnomAD v4
1g.21841211C>GCA338914276HSPG2c.9403G>C (p.Val3135Leu)
c.9406G>C (p.Val3136Leu)
c.9949G>C (p.Val3317Leu)
c.9901G>C (p.Val3301Leu)
c.9880G>C (p.Val3294Leu)
c.9952G>C (p.Val3318Leu)
c.9673G>C (p.Val3225Leu)
c.9457G>C (p.Val3153Leu)
c.9598G>C (p.Val3200Leu)
c.9547G>C (p.Val3183Leu)
c.9544G>C (p.Val3182Leu)
1g.21841211C>TCA338914278HSPG2c.9403G>A (p.Val3135Ile)
c.9406G>A (p.Val3136Ile)
c.9949G>A (p.Val3317Ile)
c.9901G>A (p.Val3301Ile)
c.9880G>A (p.Val3294Ile)
c.9952G>A (p.Val3318Ile)
c.9673G>A (p.Val3225Ile)
c.9457G>A (p.Val3153Ile)
c.9598G>A (p.Val3200Ile)
c.9547G>A (p.Val3183Ile)
c.9544G>A (p.Val3182Ile)
gnomAD v4
1g.21841212A>CCA338914282HSPG2c.9402T>G (p.Cys3134Trp)
c.9405T>G (p.Cys3135Trp)
c.9948T>G (p.Cys3316Trp)
c.9900T>G (p.Cys3300Trp)
c.9879T>G (p.Cys3293Trp)
c.9951T>G (p.Cys3317Trp)
c.9672T>G (p.Cys3224Trp)
c.9456T>G (p.Cys3152Trp)
c.9597T>G (p.Cys3199Trp)
c.9546T>G (p.Cys3182Trp)
c.9543T>G (p.Cys3181Trp)
1g.21841212A>GCA416547415HSPG2c.9402T>C (p.Cys3134=)
c.9405T>C (p.Cys3135=)
c.9948T>C (p.Cys3316=)
c.9900T>C (p.Cys3300=)
c.9879T>C (p.Cys3293=)
c.9951T>C (p.Cys3317=)
c.9672T>C (p.Cys3224=)
c.9456T>C (p.Cys3152=)
c.9597T>C (p.Cys3199=)
c.9546T>C (p.Cys3182=)
c.9543T>C (p.Cys3181=)
1g.21841212A>TCA338914284HSPG2c.9402T>A (p.Cys3134Ter)
c.9405T>A (p.Cys3135Ter)
c.9948T>A (p.Cys3316Ter)
c.9900T>A (p.Cys3300Ter)
c.9879T>A (p.Cys3293Ter)
c.9951T>A (p.Cys3317Ter)
c.9672T>A (p.Cys3224Ter)
c.9456T>A (p.Cys3152Ter)
c.9597T>A (p.Cys3199Ter)
c.9546T>A (p.Cys3182Ter)
c.9543T>A (p.Cys3181Ter)
1g.21841213C>ACA338914286HSPG2c.9401G>T (p.Cys3134Phe)
c.9404G>T (p.Cys3135Phe)
c.9947G>T (p.Cys3316Phe)
c.9899G>T (p.Cys3300Phe)
c.9878G>T (p.Cys3293Phe)
c.9950G>T (p.Cys3317Phe)
c.9671G>T (p.Cys3224Phe)
c.9455G>T (p.Cys3152Phe)
c.9596G>T (p.Cys3199Phe)
c.9545G>T (p.Cys3182Phe)
c.9542G>T (p.Cys3181Phe)
1g.21841213C>GCA338914287HSPG2c.9401G>C (p.Cys3134Ser)
c.9404G>C (p.Cys3135Ser)
c.9947G>C (p.Cys3316Ser)
c.9899G>C (p.Cys3300Ser)
c.9878G>C (p.Cys3293Ser)
c.9950G>C (p.Cys3317Ser)
c.9671G>C (p.Cys3224Ser)
c.9455G>C (p.Cys3152Ser)
c.9596G>C (p.Cys3199Ser)
c.9545G>C (p.Cys3182Ser)
c.9542G>C (p.Cys3181Ser)
1g.21841213C>TCA338914289HSPG2c.9401G>A (p.Cys3134Tyr)
c.9404G>A (p.Cys3135Tyr)
c.9947G>A (p.Cys3316Tyr)
c.9899G>A (p.Cys3300Tyr)
c.9878G>A (p.Cys3293Tyr)
c.9950G>A (p.Cys3317Tyr)
c.9671G>A (p.Cys3224Tyr)
c.9455G>A (p.Cys3152Tyr)
c.9596G>A (p.Cys3199Tyr)
c.9545G>A (p.Cys3182Tyr)
c.9542G>A (p.Cys3181Tyr)
1g.21841214A>CCA338914292HSPG2c.9400T>G (p.Cys3134Gly)
c.9403T>G (p.Cys3135Gly)
c.9946T>G (p.Cys3316Gly)
c.9898T>G (p.Cys3300Gly)
c.9877T>G (p.Cys3293Gly)
c.9949T>G (p.Cys3317Gly)
c.9670T>G (p.Cys3224Gly)
c.9454T>G (p.Cys3152Gly)
c.9595T>G (p.Cys3199Gly)
c.9544T>G (p.Cys3182Gly)
c.9541T>G (p.Cys3181Gly)
1g.21841214A>GCA338914293HSPG2c.9400T>C (p.Cys3134Arg)
c.9403T>C (p.Cys3135Arg)
c.9946T>C (p.Cys3316Arg)
c.9898T>C (p.Cys3300Arg)
c.9877T>C (p.Cys3293Arg)
c.9949T>C (p.Cys3317Arg)
c.9670T>C (p.Cys3224Arg)
c.9454T>C (p.Cys3152Arg)
c.9595T>C (p.Cys3199Arg)
c.9544T>C (p.Cys3182Arg)
c.9541T>C (p.Cys3181Arg)
1g.21841214A>TCA338914295HSPG2c.9400T>A (p.Cys3134Ser)
c.9403T>A (p.Cys3135Ser)
c.9946T>A (p.Cys3316Ser)
c.9898T>A (p.Cys3300Ser)
c.9877T>A (p.Cys3293Ser)
c.9949T>A (p.Cys3317Ser)
c.9670T>A (p.Cys3224Ser)
c.9454T>A (p.Cys3152Ser)
c.9595T>A (p.Cys3199Ser)
c.9544T>A (p.Cys3182Ser)
c.9541T>A (p.Cys3181Ser)
1g.21841215C>ACA338914297HSPG2c.9399G>T (p.Glu3133Asp)
c.9402G>T (p.Glu3134Asp)
c.9945G>T (p.Glu3315Asp)
c.9897G>T (p.Glu3299Asp)
c.9876G>T (p.Glu3292Asp)
c.9948G>T (p.Glu3316Asp)
c.9669G>T (p.Glu3223Asp)
c.9453G>T (p.Glu3151Asp)
c.9594G>T (p.Glu3198Asp)
c.9543G>T (p.Glu3181Asp)
c.9540G>T (p.Glu3180Asp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21841215C=CA1158133671HSPG2c.9399G= (p.Glu3133=)
c.9402G= (p.Glu3134=)
c.9945G= (p.Glu3315=)
c.9897G= (p.Glu3299=)
c.9876G= (p.Glu3292=)
c.9948G= (p.Glu3316=)
c.9669G= (p.Glu3223=)
c.9453G= (p.Glu3151=)
c.9594G= (p.Glu3198=)
c.9543G= (p.Glu3181=)
c.9540G= (p.Glu3180=)
1g.21841215C>GCA338914298HSPG2c.9399G>C (p.Glu3133Asp)
c.9402G>C (p.Glu3134Asp)
c.9945G>C (p.Glu3315Asp)
c.9897G>C (p.Glu3299Asp)
c.9876G>C (p.Glu3292Asp)
c.9948G>C (p.Glu3316Asp)
c.9669G>C (p.Glu3223Asp)
c.9453G>C (p.Glu3151Asp)
c.9594G>C (p.Glu3198Asp)
c.9543G>C (p.Glu3181Asp)
c.9540G>C (p.Glu3180Asp)
1g.21841215C>TCA416547416HSPG2c.9399G>A (p.Glu3133=)
c.9402G>A (p.Glu3134=)
c.9945G>A (p.Glu3315=)
c.9897G>A (p.Glu3299=)
c.9876G>A (p.Glu3292=)
c.9948G>A (p.Glu3316=)
c.9669G>A (p.Glu3223=)
c.9453G>A (p.Glu3151=)
c.9594G>A (p.Glu3198=)
c.9543G>A (p.Glu3181=)
c.9540G>A (p.Glu3180=)
1g.21841216T>ACA338914303HSPG2c.9398A>T (p.Glu3133Val)
c.9401A>T (p.Glu3134Val)
c.9944A>T (p.Glu3315Val)
c.9896A>T (p.Glu3299Val)
c.9875A>T (p.Glu3292Val)
c.9947A>T (p.Glu3316Val)
c.9668A>T (p.Glu3223Val)
c.9452A>T (p.Glu3151Val)
c.9593A>T (p.Glu3198Val)
c.9542A>T (p.Glu3181Val)
c.9539A>T (p.Glu3180Val)
1g.21841216T>CCA338914304HSPG2c.9398A>G (p.Glu3133Gly)
c.9401A>G (p.Glu3134Gly)
c.9944A>G (p.Glu3315Gly)
c.9896A>G (p.Glu3299Gly)
c.9875A>G (p.Glu3292Gly)
c.9947A>G (p.Glu3316Gly)
c.9668A>G (p.Glu3223Gly)
c.9452A>G (p.Glu3151Gly)
c.9593A>G (p.Glu3198Gly)
c.9542A>G (p.Glu3181Gly)
c.9539A>G (p.Glu3180Gly)
1g.21841216T>GCA338914301HSPG2c.9398A>C (p.Glu3133Ala)
c.9401A>C (p.Glu3134Ala)
c.9944A>C (p.Glu3315Ala)
c.9896A>C (p.Glu3299Ala)
c.9875A>C (p.Glu3292Ala)
c.9947A>C (p.Glu3316Ala)
c.9668A>C (p.Glu3223Ala)
c.9452A>C (p.Glu3151Ala)
c.9593A>C (p.Glu3198Ala)
c.9542A>C (p.Glu3181Ala)
c.9539A>C (p.Glu3180Ala)

Number of alleles fetched