Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
Y | g.13092875G>A | CA1139230761 | SFPQP1 | n.556-1700G>A | gnomAD v3 gnomAD v4 |
Y | g.13092884del | CA2547463270 | SFPQP1 | n.556-1691del | |
Y | g.13092905C>T | CA2824894712 | SFPQP1 | n.556-1670C>T | |
Y | g.13092906C>A | CA337725518 | SFPQP1 | n.556-1669C>A | dbSNP gnomAD v3 gnomAD v4 |
Y | g.13092906C= | CA2470575338 | SFPQP1 | n.556-1669C= | |
Y | g.13092909C>A | CA2589298233 | SFPQP1 | n.556-1666C>A | gnomAD v3 gnomAD v4 |
Y | g.13092913_13092914insCGGCGATGTCGGCGTCTTCAATCTTGATTGTTCCTGGGTCGTGATTGACGTACATACCGGCGGTGTAGCTCCATCCTTTGCCGATGGGGCCGG | CA2544189171 | SFPQP1 | n.556-1662_556-1661insCGGCGATGTCGGCGTCTTCAATCTTGATTGTTCCTGGGTCGTGATTGACGTACATACCGGCGGTGTAGCTCCATCCTTTGCCGATGGGGCCGG | |
Y | g.13092922G>A | CA1139230774 | SFPQP1 | n.556-1653G>A | gnomAD v3 gnomAD v4 |
Y | g.13092922G>T | CA1139230777 | SFPQP1 | n.556-1653G>T | gnomAD v3 gnomAD v4 |
Y | g.13092925G>A | CA1139230788 | SFPQP1 | n.556-1650G>A | gnomAD v3 gnomAD v4 |
Y | g.13092936T>G | CA337725519 | SFPQP1 | n.556-1639T>G | dbSNP gnomAD v3 gnomAD v4 |
Y | g.13092936T= | CA2470575339 | SFPQP1 | n.556-1639T= | |
Y | g.13092938G>C | CA2569306543 | SFPQP1 | n.556-1637G>C | |
Y | g.13092939C>A | CA1139230791 | SFPQP1 | n.556-1636C>A | gnomAD v3 gnomAD v4 |
Y | g.13092956G>T | CA2824894713 | SFPQP1 | n.556-1619G>T | |
Y | g.13092969A>G | CA2517373314 | SFPQP1 | n.556-1606A>G | |
Y | g.13092973G>A | CA337725520 | SFPQP1 | n.556-1602G>A | dbSNP gnomAD v3 gnomAD v4 |
Y | g.13092973G= | CA2470575340 | SFPQP1 | n.556-1602G= |