Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.21841116G>A | CA416547308 | HSPG2 | c.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=) | |
1 | g.21841116G>C | CA338913991 | HSPG2 | c.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) | |
1 | g.21841116G= | CA1158133628 | HSPG2 | c.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=) | |
1 | g.21841116G>T | CA338913992 | HSPG2 | c.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 |
1 | g.21841117C>A | CA338913993 | HSPG2 | c.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) | |
1 | g.21841117C>G | CA338913994 | HSPG2 | c.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) | |
1 | g.21841117C>T | CA338913995 | HSPG2 | c.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) | |
1 | g.21841118T>A | CA338913998 | HSPG2 | c.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) | |
1 | g.21841118T>C | CA338913996 | HSPG2 | c.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 |
1 | g.21841118T>G | CA338913997 | HSPG2 | c.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) | |
1 | g.21841118T= | CA1158133629 | HSPG2 | c.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=) | |
1 | g.21841119G>A | CA416547311 | HSPG2 | c.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 |
1 | g.21841119G>C | CA338913999 | HSPG2 | c.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) | |
1 | g.21841119G>T | CA338914000 | HSPG2 | c.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) | |
1 | g.21841120T>A | CA338914001 | HSPG2 | c.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) | |
1 | g.21841120T>C | CA338914002 | HSPG2 | c.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) | |
1 | g.21841120T>G | CA338914003 | HSPG2 | c.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) | |
1 | g.21841121C>A | CA338914004 | HSPG2 | c.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) | |
1 | g.21841121C= | CA1158133630 | HSPG2 | c.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=) | |
1 | g.21841121C>G | CA338914006 | HSPG2 | c.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) | |
1 | g.21841121C>T | CA338914005 | HSPG2 | c.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 |
1 | g.21841122C>A | CA338914007 | HSPG2 | c.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) | |
1 | g.21841122C>G | CA338914008 | HSPG2 | c.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) | |
1 | g.21841122C>T | CA338914009 | HSPG2 | c.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 |
1 | g.21841123A= | CA1158133631 | HSPG2 | c.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=) | |
1 | g.21841123A>C | CA338914010 | HSPG2 | c.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) | |
1 | g.21841123A>G | CA338914011 | HSPG2 | c.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) | |
1 | g.21841123A>T | CA338914012 | HSPG2 | c.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 |
1 | g.21841124T>A | CA338914013 | HSPG2 | c.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 |
1 | g.21841124T>C | CA338914014 | HSPG2 | c.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 |
1 | g.21841124T>G | CA338914015 | HSPG2 | c.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) | |
1 | g.21841124T= | CA1158133632 | HSPG2 | c.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=) | |
1 | g.21841125G>A | CA416547316 | HSPG2 | c.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=) | |
1 | g.21841125G>C | CA416547318 | HSPG2 | c.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 |
1 | g.21841125G>T | CA416547317 | HSPG2 | c.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=) | |
1 | g.21841126A>C | CA338914016 | HSPG2 | c.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) | |
1 | g.21841126A>G | CA338914017 | HSPG2 | c.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) | |
1 | g.21841126A>T | CA338914018 | HSPG2 | c.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) | |
1 | g.21841127G>A | CA670432 | HSPG2 | c.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 |
1 | g.21841127G>C | CA338914020 | HSPG2 | c.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) | |
1 | g.21841127G= | CA1158133633 | HSPG2 | c.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=) | |
1 | g.21841127G>T | CA338914019 | HSPG2 | c.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) | |
1 | g.21841128C>A | CA416547319 | HSPG2 | c.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 |
1 | g.21841128C= | CA1158133634 | HSPG2 | c.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=) | |
1 | g.21841128C>G | CA416547321 | HSPG2 | c.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=) | |
1 | g.21841128C>T | CA416547320 | HSPG2 | c.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=) | |
1 | g.21841129C>A | CA338914021 | HSPG2 | c.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) | |
1 | g.21841129C>G | CA338914022 | HSPG2 | c.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) | |
1 | g.21841129C>T | CA338914023 | HSPG2 | c.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) | |
1 | g.21841130C>A | CA338914024 | HSPG2 | c.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) | |
1 | g.21841130C= | CA1158133635 | HSPG2 | c.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=) | |
1 | g.21841130C>G | CA338914025 | HSPG2 | c.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 |
1 | g.21841130C>T | CA338914026 | HSPG2 | c.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 |
1 | g.21841131A= | CA1158133636 | HSPG2 | c.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=) | |
1 | g.21841131A>C | CA338914028 | HSPG2 | c.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) | |
1 | g.21841131A>G | CA416547325 | HSPG2 | c.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 |
1 | g.21841131A>T | CA338914027 | HSPG2 | c.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) | |
1 | g.21841132T>A | CA338914029 | HSPG2 | c.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) | |
1 | g.21841132T>C | CA338914030 | HSPG2 | c.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) | |
1 | g.21841132T>G | CA338914031 | HSPG2 | c.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) | |
1 | g.21841133A>C | CA338914032 | HSPG2 | c.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) | |
1 | g.21841133A>G | CA338914033 | HSPG2 | c.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) | |
1 | g.21841133A>T | CA338914034 | HSPG2 | c.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) | |
1 | g.21841134T>A | CA416547330 | HSPG2 | c.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 |
1 | g.21841134T>C | CA416547329 | HSPG2 | c.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 |
1 | g.21841134T>G | CA416547331 | HSPG2 | c.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=) | |
1 | g.21841134T= | CA1158133637 | HSPG2 | c.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=) | |
1 | g.21841135G>A | CA338914035 | HSPG2 | c.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 |
1 | g.21841135G>C | CA670433 | HSPG2 | c.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 |
1 | g.21841135G= | CA1144138516 | HSPG2 | c.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=) | |
1 | g.21841135G>T | CA338914036 | HSPG2 | c.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) | |
1 | g.21841136T>A | CA338914037 | HSPG2 | c.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) | |
1 | g.21841136T>C | CA670434 | HSPG2 | c.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 |
1 | g.21841136T>G | CA338914038 | HSPG2 | c.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) | |
1 | g.21841136T= | CA1158133638 | HSPG2 | c.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=) | |
1 | g.21841137C>A | CA416547335 | HSPG2 | c.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=) | |
1 | g.21841137C= | CA1158133639 | HSPG2 | c.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=) | |
1 | g.21841137C>G | CA416547336 | HSPG2 | c.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=) | |
1 | g.21841137C>T | CA416547337 | HSPG2 | c.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 |
1 | g.21841138C>A | CA338914039 | HSPG2 | c.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) | |
1 | g.21841138C= | CA1141751328 | HSPG2 | c.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=) | |
1 | g.21841138C>G | CA338914040 | HSPG2 | c.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 |
1 | g.21841138C>T | CA670435 | HSPG2 | c.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 |
1 | g.21841139G>A | CA670436 | HSPG2 | c.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 |
1 | g.21841139G>C | CA338914041 | HSPG2 | c.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) | |
1 | g.21841139G= | CA1158133640 | HSPG2 | c.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=) | |
1 | g.21841139G>T | CA416547338 | HSPG2 | c.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=) | |
1 | g.21841142_21841144dup | CA2643961770 | HSPG2 | c.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 |
1 | g.21841140C>A | CA338914042 | HSPG2 | c.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 |
1 | g.21841140C= | CA1158133641 | HSPG2 | c.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=) | |
1 | g.21841140C>G | CA338914043 | HSPG2 | c.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) | |
1 | g.21841140C>T | CA670437 | HSPG2 | c.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 |
1 | g.21841141T>A | CA338914045 | HSPG2 | c.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) | |
1 | g.21841141T>C | CA338914046 | HSPG2 | c.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) | |
1 | g.21841141T>G | CA338914044 | HSPG2 | c.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) | |
1 | g.21841142G>A | CA338914047 | HSPG2 | c.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) | |
1 | g.21841142G>C | CA338914048 | HSPG2 | c.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) | |
1 | g.21841142G>T | CA338914049 | HSPG2 | c.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) | |
1 | g.21841143C>A | CA338914051 | HSPG2 | c.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) | |
1 | g.21841143C= | CA1158133642 | HSPG2 | c.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=) | |
1 | g.21841143C>G | CA338914052 | HSPG2 | c.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) | |
1 | g.21841143C>T | CA670438 | HSPG2 | c.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 |
1 | g.21841144T>A | CA338914055 | HSPG2 | c.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) | |
1 | g.21841144T>C | CA338914053 | HSPG2 | c.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 |
1 | g.21841144T>G | CA338914054 | HSPG2 | c.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) | |
1 | g.21841144T= | CA1158133643 | HSPG2 | c.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=) | |
1 | g.21841145C>A | CA338914056 | HSPG2 | c.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) | |
1 | g.21841145C>G | CA338914057 | HSPG2 | c.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 |
1 | g.21841145C>T | CA338914058 | HSPG2 | c.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 |
1 | g.21841146C>A | CA338914059 | HSPG2 | c.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) | |
1 | g.21841146C= | CA1158133644 | HSPG2 | c.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=) | |
1 | g.21841146C>G | CA338914060 | HSPG2 | c.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 |
1 | g.21841146C>T | CA416547344 | HSPG2 | c.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=) | |
1 | g.21841147A>C | CA338914063 | HSPG2 | c.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) | |
1 | g.21841147A>G | CA338914061 | HSPG2 | c.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) | |
1 | g.21841147A>T | CA338914062 | HSPG2 | c.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) | |
1 | g.21841148A>C | CA338914064 | HSPG2 | c.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) | |
1 | g.21841148A>G | CA416547345 | HSPG2 | c.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 |
1 | g.21841148A>T | CA338914065 | HSPG2 | c.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) | |
1 | g.21841149C>A | CA338914066 | HSPG2 | c.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) | |
1 | g.21841149C= | CA1158133645 | HSPG2 | c.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=) | |
1 | g.21841149C>G | CA338914067 | HSPG2 | c.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 |
1 | g.21841149C>T | CA416547349 | HSPG2 | c.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=) | |
1 | g.21841150T>A | CA338914068 | HSPG2 | c.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) | |
1 | g.21841150T>C | CA338914069 | HSPG2 | c.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 |
1 | g.21841150T>G | CA338914070 | HSPG2 | c.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) | |
1 | g.21841151T>A | CA338914071 | HSPG2 | c.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) | |
1 | g.21841151T>C | CA338914072 | HSPG2 | c.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) | |
1 | g.21841151T>G | CA338914073 | HSPG2 | c.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) | |
1 | g.21841152G>A | CA416547353 | HSPG2 | c.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 |
1 | g.21841152G>C | CA416547351 | HSPG2 | c.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=) | |
1 | g.21841152G>T | CA416547350 | HSPG2 | c.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=) | |
1 | g.21841153G>A | CA338914074 | HSPG2 | c.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 |
1 | g.21841153G>C | CA338914075 | HSPG2 | c.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) | |
1 | g.21841153G>T | CA338914076 | HSPG2 | c.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) | |
1 | g.21841154C>A | CA338914079 | HSPG2 | c.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) | |
1 | g.21841154C>G | CA338914077 | HSPG2 | c.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) | |
1 | g.21841154C>T | CA338914078 | HSPG2 | c.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) | |
1 | g.21841155A= | CA1158133646 | HSPG2 | c.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=) | |
1 | g.21841155A>C | CA416547357 | HSPG2 | c.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=) | |
1 | g.21841155A>G | CA416547356 | HSPG2 | c.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 |
1 | g.21841155A>T | CA416547355 | HSPG2 | c.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=) | |
1 | g.21841156G>A | CA670439 | HSPG2 | c.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 |
1 | g.21841156G>C | CA338914080 | HSPG2 | c.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) | |
1 | g.21841156G= | CA1158133647 | HSPG2 | c.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=) | |
1 | g.21841156G>T | CA338914081 | HSPG2 | c.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) | |
1 | g.21841157G>A | CA338914082 | HSPG2 | c.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) | |
1 | g.21841157G>C | CA338914083 | HSPG2 | c.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) | |
1 | g.21841157G= | CA1158133648 | HSPG2 | c.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=) | |
1 | g.21841157G>T | CA338914084 | HSPG2 | c.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 |
1 | g.21841158G>A | CA416547361 | HSPG2 | c.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=) | |
1 | g.21841158G>C | CA416547362 | HSPG2 | c.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 |
1 | g.21841158G= | CA1158133649 | HSPG2 | c.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=) | |
1 | g.21841158G>T | CA416547363 | HSPG2 | c.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=) | |
1 | g.21841159G>A | CA338914087 | HSPG2 | c.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 |
1 | g.21841159G>C | CA338914085 | HSPG2 | c.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) | |
1 | g.21841159G= | CA1158133650 | HSPG2 | c.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=) | |
1 | g.21841159G>T | CA338914086 | HSPG2 | c.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) | |
1 | g.21841160T>A | CA338914088 | HSPG2 | c.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 |
1 | g.21841160T>C | CA338914089 | HSPG2 | c.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) | |
1 | g.21841160T>G | CA670440 | HSPG2 | c.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 |
1 | g.21841160T= | CA1158133651 | HSPG2 | c.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=) | |
1 | g.21841161G>A | CA416547367 | HSPG2 | c.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=) | |
1 | g.21841161G>C | CA338914090 | HSPG2 | c.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) | |
1 | g.21841161G>T | CA338914091 | HSPG2 | c.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) | |
1 | g.21841162C>A | CA338914094 | HSPG2 | c.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) | |
1 | g.21841162C= | CA1158133652 | HSPG2 | c.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=) | |
1 | g.21841162C>G | CA338914092 | HSPG2 | c.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) | |
1 | g.21841162C>T | CA338914093 | HSPG2 | c.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 |
1 | g.21841163T>A | CA338914095 | HSPG2 | c.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) | |
1 | g.21841163T>C | CA338914096 | HSPG2 | c.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 |
1 | g.21841163T>G | CA338914097 | HSPG2 | c.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) | |
1 | g.21841163T= | CA1158133653 | HSPG2 | c.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=) | |
1 | g.21841164G>A | CA416547371 | HSPG2 | c.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 |
1 | g.21841164G>C | CA338914098 | HSPG2 | c.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) | |
1 | g.21841164G= | CA1158133654 | HSPG2 | c.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=) | |
1 | g.21841164G>T | CA338914099 | HSPG2 | c.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) | |
1 | g.21841165C>A | CA338914100 | HSPG2 | c.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) | |
1 | g.21841165C>G | CA338914101 | HSPG2 | c.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) | |
1 | g.21841165C>T | CA338914102 | HSPG2 | c.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 |
1 | g.21841166T>A | CA338914103 | HSPG2 | c.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) | |
1 | g.21841166T>C | CA338914104 | HSPG2 | c.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 |
1 | g.21841166T>G | CA338914105 | HSPG2 | c.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) | |
1 | g.21841167G>A | CA416547376 | HSPG2 | c.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 |
1 | g.21841167G>C | CA338914106 | HSPG2 | c.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) | |
1 | g.21841167G>T | CA416547375 | HSPG2 | c.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=) | |
1 | g.21841168A>C | CA338914107 | HSPG2 | c.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) | |
1 | g.21841168A>G | CA338914109 | HSPG2 | c.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) | |
1 | g.21841168A>T | CA338914108 | HSPG2 | c.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) | |
1 | g.21841169T>A | CA338914110 | HSPG2 | c.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) | |
1 | g.21841169T>C | CA338914112 | HSPG2 | c.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) | |
1 | g.21841169T>G | CA338914111 | HSPG2 | c.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) | |
1 | g.21841170C>A | CA670441 | HSPG2 | c.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 |
1 | g.21841170C= | CA1158133655 | HSPG2 | c.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=) | |
1 | g.21841170C>G | CA416547378 | HSPG2 | c.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=) | |
1 | g.21841170C>T | CA670442 | HSPG2 | c.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 |
1 | g.21841171C>A | CA338914115 | HSPG2 | c.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) | |
1 | g.21841171C= | CA1158133656 | HSPG2 | c.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=) | |
1 | g.21841171C>G | CA338914117 | HSPG2 | c.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 |
1 | g.21841171C>T | CA670443 | HSPG2 | c.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 |
1 | g.21841172G>A | CA670444 | HSPG2 | c.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 |
1 | g.21841172G>C | CA338914120 | HSPG2 | c.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) | |
1 | g.21841172G= | CA1147812394 | HSPG2 | c.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=) | |
1 | g.21841172G>T | CA416547379 | HSPG2 | c.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=) | |
1 | g.21841173G>A | CA416547381 | HSPG2 | c.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 |
1 | g.21841173G>C | CA416547382 | HSPG2 | c.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=) | |
1 | g.21841173G= | CA1158133657 | HSPG2 | c.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=) | |
1 | g.21841173G>T | CA670445 | HSPG2 | c.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 |
1 | g.21841174G>A | CA338914124 | HSPG2 | c.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) | |
1 | g.21841174G>C | CA338914126 | HSPG2 | c.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) | |
1 | g.21841174G>T | CA338914127 | HSPG2 | c.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) | |
1 | g.21841175T>A | CA338914133 | HSPG2 | c.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) | |
1 | g.21841175T>C | CA338914130 | HSPG2 | c.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) | |
1 | g.21841175T>G | CA338914132 | HSPG2 | c.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) | |
1 | g.21841176C>A | CA338914137 | HSPG2 | c.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) | |
1 | g.21841176C>G | CA338914138 | HSPG2 | c.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) | |
1 | g.21841176C>T | CA338914140 | HSPG2 | c.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 |
1 | g.21841177C>A | CA338914143 | HSPG2 | c.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) | |
1 | g.21841177C>G | CA338914144 | HSPG2 | c.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) | |
1 | g.21841177C>T | CA338914146 | HSPG2 | c.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) | |
1 | g.21841178A>C | CA338914148 | HSPG2 | c.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) | |
1 | g.21841178A>G | CA338914150 | HSPG2 | c.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) | |
1 | g.21841178A>T | CA338914152 | HSPG2 | c.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) | |
1 | g.21841179A= | CA1158133658 | HSPG2 | c.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=) | |
1 | g.21841179A>C | CA416547385 | HSPG2 | c.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=) | |
1 | g.21841179A>G | CA670446 | HSPG2 | c.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 |
1 | g.21841179A>T | CA416547387 | HSPG2 | c.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=) | |
1 | g.21841180C>A | CA338914157 | HSPG2 | c.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 |
1 | g.21841180C= | CA1148295737 | HSPG2 | c.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=) | |
1 | g.21841180C>G | CA338914159 | HSPG2 | c.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) | |
1 | g.21841180C>T | CA670447 | HSPG2 | c.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 |
1 | g.21841181G>A | CA670448 | HSPG2 | c.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 |
1 | g.21841181G>C | CA338914162 | HSPG2 | c.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) | |
1 | g.21841181G= | CA1158133659 | HSPG2 | c.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=) | |
1 | g.21841181G>T | CA338914163 | HSPG2 | c.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) | |
1 | g.21841182A>C | CA416547390 | HSPG2 | c.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=) | |
1 | g.21841182A>G | CA416547389 | HSPG2 | c.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=) | |
1 | g.21841182A>T | CA416547391 | HSPG2 | c.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=) | |
1 | g.21841183G>A | CA338914166 | HSPG2 | c.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) | |
1 | g.21841183G>C | CA338914168 | HSPG2 | c.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) | |
1 | g.21841183G>T | CA338914169 | HSPG2 | c.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) | |
1 | g.21841184C>A | CA338914171 | HSPG2 | c.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 |
1 | g.21841184C= | CA1158133660 | HSPG2 | c.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=) | |
1 | g.21841184C>G | CA338914173 | HSPG2 | c.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) | |
1 | g.21841184C>T | CA338914175 | HSPG2 | c.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) | |
1 | g.21841185A>C | CA416547392 | HSPG2 | c.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=) | |
1 | g.21841185A>G | CA416547395 | HSPG2 | c.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=) | |
1 | g.21841185A>T | CA416547393 | HSPG2 | c.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=) | |
1 | g.21841186G>A | CA338914177 | HSPG2 | c.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 |
1 | g.21841186G>C | CA338914179 | HSPG2 | c.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) | |
1 | g.21841186G= | CA1158133661 | HSPG2 | c.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=) | |
1 | g.21841186G>T | CA338914181 | HSPG2 | c.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 |
1 | g.21841187A>C | CA338914183 | HSPG2 | c.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) | |
1 | g.21841187A>G | CA338914184 | HSPG2 | c.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) | |
1 | g.21841187A>T | CA338914182 | HSPG2 | c.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) | |
1 | g.21841188G>A | CA670449 | HSPG2 | c.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 |
1 | g.21841188G>C | CA416547398 | HSPG2 | c.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=) | |
1 | g.21841188G= | CA1143740333 | HSPG2 | c.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=) | |
1 | g.21841188G>T | CA416547396 | HSPG2 | c.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=) | |
1 | g.21841189G>A | CA338914188 | HSPG2 | c.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 |
1 | g.21841189G>C | CA338914189 | HSPG2 | c.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) | |
1 | g.21841189G= | CA1158133662 | HSPG2 | c.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=) | |
1 | g.21841189G>T | CA338914191 | HSPG2 | c.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 |
1 | g.21841190A= | CA1158133663 | HSPG2 | c.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=) | |
1 | g.21841190A>C | CA338914197 | HSPG2 | c.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) | |
1 | g.21841190A>G | CA338914195 | HSPG2 | c.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 |
1 | g.21841190A>T | CA338914194 | HSPG2 | c.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) | |
1 | g.21841191G>A | CA416547401 | HSPG2 | c.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 |
1 | g.21841191G>C | CA416547400 | HSPG2 | c.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=) | |
1 | g.21841191G= | CA1158133664 | HSPG2 | c.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=) | |
1 | g.21841191G>T | CA416547399 | HSPG2 | c.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=) | |
1 | g.21841192C>A | CA338914200 | HSPG2 | c.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 |
1 | g.21841192C= | CA1148478422 | HSPG2 | c.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=) | |
1 | g.21841192C>G | CA338914201 | HSPG2 | c.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) | |
1 | g.21841192C>T | CA670450 | HSPG2 | c.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 |
1 | g.21841193G>A | CA670451 | HSPG2 | c.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 |
1 | g.21841193G>C | CA338914206 | HSPG2 | c.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 |
1 | g.21841193G= | CA1146738609 | HSPG2 | c.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=) | |
1 | g.21841193G>T | CA338914207 | HSPG2 | c.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) | |
1 | g.21841194G>A | CA416547403 | HSPG2 | c.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=) | |
1 | g.21841194G>C | CA416547402 | HSPG2 | c.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=) | |
1 | g.21841194G>T | CA416547404 | HSPG2 | c.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=) | |
1 | g.21841195G>A | CA338914209 | HSPG2 | c.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) | |
1 | g.21841195G>C | CA338914212 | HSPG2 | c.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) | |
1 | g.21841195G>T | CA338914210 | HSPG2 | c.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) | |
1 | g.21841196G>A | CA338914215 | HSPG2 | c.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 |
1 | g.21841196G>C | CA338914218 | HSPG2 | c.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) | |
1 | g.21841196G= | CA1158133665 | HSPG2 | c.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=) | |
1 | g.21841196G>T | CA338914217 | HSPG2 | c.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) | |
1 | g.21841197C>A | CA19107042 | HSPG2 | c.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 |
1 | g.21841197C= | CA1158133666 | HSPG2 | c.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=) | |
1 | g.21841197C>G | CA338914222 | HSPG2 | c.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) | |
1 | g.21841197C>T | CA416547406 | HSPG2 | c.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=) | |
1 | g.21841198T>A | CA338914224 | HSPG2 | c.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) | |
1 | g.21841198T>C | CA670452 | HSPG2 | c.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 |
1 | g.21841198T>G | CA338914226 | HSPG2 | c.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) | |
1 | g.21841198T= | CA1143944884 | HSPG2 | c.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=) | |
1 | g.21841199C>A | CA338914228 | HSPG2 | c.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) | |
1 | g.21841199C>G | CA338914229 | HSPG2 | c.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 |
1 | g.21841199C>T | CA338914231 | HSPG2 | c.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) | |
1 | g.21841200C>A | CA416547408 | HSPG2 | c.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=) | |
1 | g.21841200C= | CA1144158227 | HSPG2 | c.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=) | |
1 | g.21841200C>G | CA416547407 | HSPG2 | c.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=) | |
1 | g.21841200C>T | CA670453 | HSPG2 | c.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 |
1 | g.21841201C>A | CA338914235 | HSPG2 | c.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) | |
1 | g.21841201C>G | CA338914238 | HSPG2 | c.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) | |
1 | g.21841201C>T | CA338914236 | HSPG2 | c.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) | |
1 | g.21841202C>A | CA338914241 | HSPG2 | c.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) | |
1 | g.21841202C= | CA1143516859 | HSPG2 | c.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=) | |
1 | g.21841202C>G | CA670455 | HSPG2 | c.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 |
1 | g.21841202C>T | CA670454 | HSPG2 | c.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 |
1 | g.21841203G>A | CA670456 | HSPG2 | c.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 |
1 | g.21841203G>C | CA416547410 | HSPG2 | c.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=) | |
1 | g.21841203G= | CA1144734684 | HSPG2 | c.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=) | |
1 | g.21841203G>T | CA416547409 | HSPG2 | c.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=) | |
1 | g.21841204G>A | CA338914245 | HSPG2 | c.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 |
1 | g.21841204G>C | CA338914248 | HSPG2 | c.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) | |
1 | g.21841204G>T | CA338914247 | HSPG2 | c.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) | |
1 | g.21841205C>A | CA338914249 | HSPG2 | c.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) | |
1 | g.21841205C= | CA1158133667 | HSPG2 | c.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=) | |
1 | g.21841205C>G | CA338914251 | HSPG2 | c.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 |
1 | g.21841205C>T | CA338914253 | HSPG2 | c.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 |
1 | g.21841206A= | CA1158133668 | HSPG2 | c.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=) | |
1 | g.21841206A>C | CA338914255 | HSPG2 | c.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) | |
1 | g.21841206A>G | CA416547411 | HSPG2 | c.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 |
1 | g.21841206A>T | CA338914257 | HSPG2 | c.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 |
1 | g.21841207C>A | CA338914259 | HSPG2 | c.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) | |
1 | g.21841207C= | CA1158133669 | HSPG2 | c.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=) | |
1 | g.21841207C>G | CA338914261 | HSPG2 | c.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 |
1 | g.21841207C>T | CA338914263 | HSPG2 | c.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) | |
1 | g.21841208T>A | CA338914265 | HSPG2 | c.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) | |
1 | g.21841208T>C | CA670457 | HSPG2 | c.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 |
1 | g.21841208T>G | CA338914268 | HSPG2 | c.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) | |
1 | g.21841208T= | CA1158133670 | HSPG2 | c.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=) | |
1 | g.21841209G>A | CA416547412 | HSPG2 | c.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=) | |
1 | g.21841209G>C | CA416547414 | HSPG2 | c.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=) | |
1 | g.21841209G>T | CA416547413 | HSPG2 | c.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=) | |
1 | g.21841210A= | CA1143770955 | HSPG2 | c.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=) | |
1 | g.21841210A>C | CA338914274 | HSPG2 | c.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) | |
1 | g.21841210A>G | CA338914272 | HSPG2 | c.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) | |
1 | g.21841210A>T | CA670458 | HSPG2 | c.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 |
1 | g.21841211C>A | CA338914280 | HSPG2 | c.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 |
1 | g.21841211C>G | CA338914276 | HSPG2 | c.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) | |
1 | g.21841211C>T | CA338914278 | HSPG2 | c.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 |
1 | g.21841212A>C | CA338914282 | HSPG2 | c.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) | |
1 | g.21841212A>G | CA416547415 | HSPG2 | c.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=) | |
1 | g.21841212A>T | CA338914284 | HSPG2 | c.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) | |
1 | g.21841213C>A | CA338914286 | HSPG2 | c.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) | |
1 | g.21841213C>G | CA338914287 | HSPG2 | c.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) | |
1 | g.21841213C>T | CA338914289 | HSPG2 | c.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) | |
1 | g.21841214A>C | CA338914292 | HSPG2 | c.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) | |
1 | g.21841214A>G | CA338914293 | HSPG2 | c.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) | |
1 | g.21841214A>T | CA338914295 | HSPG2 | c.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) | |
1 | g.21841215C>A | CA338914297 | HSPG2 | c.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 |
1 | g.21841215C= | CA1158133671 | HSPG2 | c.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=) | |
1 | g.21841215C>G | CA338914298 | HSPG2 | c.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) | |
1 | g.21841215C>T | CA416547416 | HSPG2 | c.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=) | |
1 | g.21841216T>A | CA338914303 | HSPG2 | c.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) | |
1 | g.21841216T>C | CA338914304 | HSPG2 | c.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) | |
1 | g.21841216T>G | CA338914301 | HSPG2 | c.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) |