| Genename | Variants |
|---|---|
| BLVRA(NM_001253823,biliverdin reductase A,296aa) | g.7:43830880A>G,c.167A>G,p.Q56R |
| BLVRA(NM_001253823,biliverdin reductase A,296aa) | g.7:43810764G>A,c.7G>A,p.A3T |
| BLOC1S6(NM_012388,biogenesis of lysosomal organelles complex-1, subunit 6, pallidin,172aa) | g.15:45884381T>C,c.131T>C,p.I44T |
| BLOC1S5(NM_001199322,biogenesis of lysosomal organelles complex-1, subunit 5, muted,123aa) | g.6:8041495G>A,c.10C>T,p.R4C |
| BLOC1S5(NM_001199322,biogenesis of lysosomal organelles complex-1, subunit 5, muted,123aa) | g.6:8026608G>A,c.184C>T,p.R62X |
| BLOC1S4(NM_018366,biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino,217aa) | g.4:6718502C>T,c.566C>T,p.S189L |
| BLOC1S3(NM_212550,biogenesis of lysosomal organelles complex-1, subunit 3,202aa) | g.19:45683059G>T,c.505G>T,p.A169S |
| BLOC1S3(NM_212550,biogenesis of lysosomal organelles complex-1, subunit 3,202aa) | g.19:45683032G>T,c.478G>T,p.V160L |
| BLOC1S3(NM_212550,biogenesis of lysosomal organelles complex-1, subunit 3,202aa) | g.19:45682876C>G,c.322C>G,p.L108V |
| BLNK(NM_013314,B-cell linker,456aa) | g.10:98006765C>G,c.88G>C,p.G30R |
| BLNK(NM_013314,B-cell linker,456aa) | g.10:97990576C>T,c.178G>A,p.E60K |
| BLNK(NM_013314,B-cell linker,456aa) | g.10:97987252G>T,c.275C>A,p.A92D |
| BLNK(NM_013314,B-cell linker,456aa) | g.10:97987234G>A,c.293C>T,p.P98L |
| BLNK(NM_013314,B-cell linker,456aa) | g.10:97975101C>T,c.652G>A,p.A218T |
| BLNK(NM_013314,B-cell linker,456aa) | g.10:97969621G>A,c.719C>T,p.A240V |
| BLNK(NM_013314,B-cell linker,456aa) | g.10:97959905C>T,c.1021G>A,p.V341I |
| BLM(NM_000057,Bloom syndrome, RecQ helicase-like,1417aa) | g.15:91354582C>T,c.4022C>T,p.A1341V |
| BLM(NM_000057,Bloom syndrome, RecQ helicase-like,1417aa) | g.15:91354545A>G,c.3985A>G,p.K1329E |
| BLM(NM_000057,Bloom syndrome, RecQ helicase-like,1417aa) | g.15:91354521G>A,c.3961G>A,p.V1321I |
| BLM(NM_000057,Bloom syndrome, RecQ helicase-like,1417aa) | g.15:91354439A>G,c.3879A>G,p.E1293E |
| BLM(NM_000057,Bloom syndrome, RecQ helicase-like,1417aa) | g.15:91347463T>A,c.3625T>A,p.S1209T |
| BLM(NM_000057,Bloom syndrome, RecQ helicase-like,1417aa) | g.15:91346819G>A,c.3427G>A,p.E1143K |
| BLM(NM_000057,Bloom syndrome, RecQ helicase-like,1417aa) | g.15:91337505C>A,c.3128C>A,p.A1043D |
| BLM(NM_000057,Bloom syndrome, RecQ helicase-like,1417aa) | g.15:91333894A>G,c.2839A>G,p.I947V |
| BLM(NM_000057,Bloom syndrome, RecQ helicase-like,1417aa) | g.15:91326099C>T,c.2603C>T,p.P868L |
| BLM(NM_000057,Bloom syndrome, RecQ helicase-like,1417aa) | g.15:91312776A>G,c.2515A>G,p.K839E |
| BLM(NM_000057,Bloom syndrome, RecQ helicase-like,1417aa) | g.15:91312426C>T,c.2371C>T,p.R791C |
| BLM(NM_000057,Bloom syndrome, RecQ helicase-like,1417aa) | g.15:91310239G>A,c.2293G>A,p.V765I |