WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21841112C>A | CA338913982 | HSPG2 | c.9502G>T (p.Ala3168Ser) c.9505G>T (p.Ala3169Ser) c.10048G>T (p.Ala3350Ser) c.10000G>T (p.Ala3334Ser) c.9979G>T (p.Ala3327Ser) c.10051G>T (p.Ala3351Ser) c.9772G>T (p.Ala3258Ser) c.9556G>T (p.Ala3186Ser) c.9697G>T (p.Ala3233Ser) c.9646G>T (p.Ala3216Ser) c.9643G>T (p.Ala3215Ser) | |
| 1 | g.21841112C= | CA1139921402 | HSPG2 | c.9502G= (p.Ala3168=) c.9505G= (p.Ala3169=) c.10048G= (p.Ala3350=) c.10000G= (p.Ala3334=) c.9979G= (p.Ala3327=) c.10051G= (p.Ala3351=) c.9772G= (p.Ala3258=) c.9556G= (p.Ala3186=) c.9697G= (p.Ala3233=) c.9646G= (p.Ala3216=) c.9643G= (p.Ala3215=) | |
| 1 | g.21841112C>G | CA338913983 | HSPG2 | c.9502G>C (p.Ala3168Pro) c.9505G>C (p.Ala3169Pro) c.10048G>C (p.Ala3350Pro) c.10000G>C (p.Ala3334Pro) c.9979G>C (p.Ala3327Pro) c.10051G>C (p.Ala3351Pro) c.9772G>C (p.Ala3258Pro) c.9556G>C (p.Ala3186Pro) c.9697G>C (p.Ala3233Pro) c.9646G>C (p.Ala3216Pro) c.9643G>C (p.Ala3215Pro) | |
| 1 | g.21841112C>T | CA670429 | HSPG2 | c.9502G>A (p.Ala3168Thr) c.9505G>A (p.Ala3169Thr) c.10048G>A (p.Ala3350Thr) c.10000G>A (p.Ala3334Thr) c.9979G>A (p.Ala3327Thr) c.10051G>A (p.Ala3351Thr) c.9772G>A (p.Ala3258Thr) c.9556G>A (p.Ala3186Thr) c.9697G>A (p.Ala3233Thr) c.9646G>A (p.Ala3216Thr) c.9643G>A (p.Ala3215Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21841113G>A | CA670430 | HSPG2 | c.9501C>T (p.His3167=) c.9504C>T (p.His3168=) c.10047C>T (p.His3349=) c.9999C>T (p.His3333=) c.9978C>T (p.His3326=) c.10050C>T (p.His3350=) c.9771C>T (p.His3257=) c.9555C>T (p.His3185=) c.9696C>T (p.His3232=) c.9645C>T (p.His3215=) c.9642C>T (p.His3214=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.21841113G>C | CA338913984 | HSPG2 | c.9501C>G (p.His3167Gln) c.9504C>G (p.His3168Gln) c.10047C>G (p.His3349Gln) c.9999C>G (p.His3333Gln) c.9978C>G (p.His3326Gln) c.10050C>G (p.His3350Gln) c.9771C>G (p.His3257Gln) c.9555C>G (p.His3185Gln) c.9696C>G (p.His3232Gln) c.9645C>G (p.His3215Gln) c.9642C>G (p.His3214Gln) | |
| 1 | g.21841113G= | CA1148406979 | HSPG2 | c.9501C= (p.His3167=) c.9504C= (p.His3168=) c.10047C= (p.His3349=) c.9999C= (p.His3333=) c.9978C= (p.His3326=) c.10050C= (p.His3350=) c.9771C= (p.His3257=) c.9555C= (p.His3185=) c.9696C= (p.His3232=) c.9645C= (p.His3215=) c.9642C= (p.His3214=) | |
| 1 | g.21841113G>T | CA338913985 | HSPG2 | c.9501C>A (p.His3167Gln) c.9504C>A (p.His3168Gln) c.10047C>A (p.His3349Gln) c.9999C>A (p.His3333Gln) c.9978C>A (p.His3326Gln) c.10050C>A (p.His3350Gln) c.9771C>A (p.His3257Gln) c.9555C>A (p.His3185Gln) c.9696C>A (p.His3232Gln) c.9645C>A (p.His3215Gln) c.9642C>A (p.His3214Gln) | |
| 1 | g.21841114T>A | CA338913987 | HSPG2 | c.9500A>T (p.His3167Leu) c.9503A>T (p.His3168Leu) c.10046A>T (p.His3349Leu) c.9998A>T (p.His3333Leu) c.9977A>T (p.His3326Leu) c.10049A>T (p.His3350Leu) c.9770A>T (p.His3257Leu) c.9554A>T (p.His3185Leu) c.9695A>T (p.His3232Leu) c.9644A>T (p.His3215Leu) c.9641A>T (p.His3214Leu) | |
| 1 | g.21841114T>C | CA670431 | HSPG2 | c.9500A>G (p.His3167Arg) c.9503A>G (p.His3168Arg) c.10046A>G (p.His3349Arg) c.9998A>G (p.His3333Arg) c.9977A>G (p.His3326Arg) c.10049A>G (p.His3350Arg) c.9770A>G (p.His3257Arg) c.9554A>G (p.His3185Arg) c.9695A>G (p.His3232Arg) c.9644A>G (p.His3215Arg) c.9641A>G (p.His3214Arg) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.21841114T>G | CA338913986 | HSPG2 | c.9500A>C (p.His3167Pro) c.9503A>C (p.His3168Pro) c.10046A>C (p.His3349Pro) c.9998A>C (p.His3333Pro) c.9977A>C (p.His3326Pro) c.10049A>C (p.His3350Pro) c.9770A>C (p.His3257Pro) c.9554A>C (p.His3185Pro) c.9695A>C (p.His3232Pro) c.9644A>C (p.His3215Pro) c.9641A>C (p.His3214Pro) | |
| 1 | g.21841114T= | CA1144992222 | HSPG2 | c.9500A= (p.His3167=) c.9503A= (p.His3168=) c.10046A= (p.His3349=) c.9998A= (p.His3333=) c.9977A= (p.His3326=) c.10049A= (p.His3350=) c.9770A= (p.His3257=) c.9554A= (p.His3185=) c.9695A= (p.His3232=) c.9644A= (p.His3215=) c.9641A= (p.His3214=) | |
| 1 | g.21841115G>A | CA338913990 | HSPG2 | c.9499C>T (p.His3167Tyr) c.9502C>T (p.His3168Tyr) c.10045C>T (p.His3349Tyr) c.9997C>T (p.His3333Tyr) c.9976C>T (p.His3326Tyr) c.10048C>T (p.His3350Tyr) c.9769C>T (p.His3257Tyr) c.9553C>T (p.His3185Tyr) c.9694C>T (p.His3232Tyr) c.9643C>T (p.His3215Tyr) c.9640C>T (p.His3214Tyr) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21841115G>C | CA338913988 | HSPG2 | c.9499C>G (p.His3167Asp) c.9502C>G (p.His3168Asp) c.10045C>G (p.His3349Asp) c.9997C>G (p.His3333Asp) c.9976C>G (p.His3326Asp) c.10048C>G (p.His3350Asp) c.9769C>G (p.His3257Asp) c.9553C>G (p.His3185Asp) c.9694C>G (p.His3232Asp) c.9643C>G (p.His3215Asp) c.9640C>G (p.His3214Asp) | |
| 1 | g.21841115G>T | CA338913989 | HSPG2 | c.9499C>A (p.His3167Asn) c.9502C>A (p.His3168Asn) c.10045C>A (p.His3349Asn) c.9997C>A (p.His3333Asn) c.9976C>A (p.His3326Asn) c.10048C>A (p.His3350Asn) c.9769C>A (p.His3257Asn) c.9553C>A (p.His3185Asn) c.9694C>A (p.His3232Asn) c.9643C>A (p.His3215Asn) c.9640C>A (p.His3214Asn) | gnomAD v4 |
| 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=) |