Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.216175474G>A | CA276026 | USH2A | c.4405C>T (p.Gln1469Ter) | ClinVar dbSNP gnomAD v4 |
1 | g.216175474G>C | CA344863960 | USH2A | c.4405C>G (p.Gln1469Glu) | |
1 | g.216175474G= | CA1220588293 | USH2A | c.4405C= (p.Gln1469=) | |
1 | g.216175474G>T | CA344863961 | USH2A | c.4405C>A (p.Gln1469Lys) | |
1 | g.216175475T>A | CA423431158 | USH2A | c.4404A>T (p.Ala1468=) | |
1 | g.216175475T>C | CA423431160 | USH2A | c.4404A>G (p.Ala1468=) | |
1 | g.216175475T>G | CA423431161 | USH2A | c.4404A>C (p.Ala1468=) | |
1 | g.216175476G>A | CA344863962 | USH2A | c.4403C>T (p.Ala1468Val) | |
1 | g.216175476G>C | CA344863963 | USH2A | c.4403C>G (p.Ala1468Gly) | ClinVar dbSNP gnomAD v4 |
1 | g.216175476G>T | CA344863964 | USH2A | c.4403C>A (p.Ala1468Glu) | |
1 | g.216175477C>A | CA344863965 | USH2A | c.4402G>T (p.Ala1468Ser) | |
1 | g.216175477C>G | CA344863966 | USH2A | c.4402G>C (p.Ala1468Pro) | |
1 | g.216175477C>T | CA344863967 | USH2A | c.4402G>A (p.Ala1468Thr) | |
1 | g.216175478T>A | CA423431166 | USH2A | c.4401A>T (p.Pro1467=) | |
1 | g.216175478T>C | CA423431167 | USH2A | c.4401A>G (p.Pro1467=) | |
1 | g.216175478T>G | CA37492851 | USH2A | c.4401A>C (p.Pro1467=) | dbSNP gnomAD v4 |
1 | g.216175478T= | CA1148429432 | USH2A | c.4401A= (p.Pro1467=) | |
1 | g.216175478_216175479insACA | CA2747733546 | USH2A | c.4400_4401insTGT (p.Pro1467_Ala1468insVal) | |
1 | g.216175479G>A | CA344863968 | USH2A | c.4400C>T (p.Pro1467Leu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.216175479G>C | CA344863969 | USH2A | c.4400C>G (p.Pro1467Arg) | dbSNP |
1 | g.216175479G= | CA1220588294 | USH2A | c.4400C= (p.Pro1467=) | |
1 | g.216175479G>T | CA344863970 | USH2A | c.4400C>A (p.Pro1467Gln) | |
1 | g.216175480G>A | CA344863973 | USH2A | c.4399C>T (p.Pro1467Ser) | |
1 | g.216175480G>C | CA344863971 | USH2A | c.4399C>G (p.Pro1467Ala) | |
1 | g.216175480G>T | CA344863972 | USH2A | c.4399C>A (p.Pro1467Thr) | |
1 | g.216175480_216175481insACA | CA2747733547 | USH2A | c.4398_4399insTGT (p.Ala1466_Pro1467insCys) | |
1 | g.216175480_216175481insACT | CA2747733548 | USH2A | c.4398_4399insAGT (p.Ala1466_Pro1467insSer) | |
1 | g.216175481T>A | CA423431170 | USH2A | c.4398A>T (p.Ala1466=) | |
1 | g.216175481T>C | CA423431171 | USH2A | c.4398A>G (p.Ala1466=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216175481T>G | CA423431169 | USH2A | c.4398A>C (p.Ala1466=) | ClinVar |
1 | g.216175481T= | CA1220588295 | USH2A | c.4398A= (p.Ala1466=) | |
1 | g.216175482_216175484del | CA2747733549 | USH2A | c.4397-1_4398del | |
1 | g.216175482G>A | CA344863974 | USH2A | c.4397C>T (p.Ala1466Val) | COSMIC COSMIC COSMIC |
1 | g.216175482G>C | CA344863975 | USH2A | c.4397C>G (p.Ala1466Gly) | |
1 | g.216175482G>T | CA344863976 | USH2A | c.4397C>A (p.Ala1466Glu) | |
1 | g.216175483del | CA2739275641 | USH2A | c.4397-1del (n.4397-1del) | ClinVar |
1 | g.216175483C>A | CA344863977 | USH2A | c.4397-1G>T (n.4397-1G>T) | |
1 | g.216175483C= | CA1143387765 | USH2A | c.4397-1G= (n.4397-1G=) | |
1 | g.216175483C>G | CA344863978 | USH2A | c.4397-1G>C (n.4397-1G>C) | |
1 | g.216175483C>T | CA1395712 | USH2A | c.4397-1G>A (n.4397-1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216175484T>A | CA344863979 | USH2A | c.4397-2A>T (n.4397-2A>T) | |
1 | g.216175484T>C | CA344863980 | USH2A | c.4397-2A>G (n.4397-2A>G) | |
1 | g.216175484T>G | CA344863981 | USH2A | c.4397-2A>C (n.4397-2A>C) | |
1 | g.216175485A>C | CA2747733550 | USH2A | c.4397-3T>G (n.4397-3T>G) | |
1 | g.216175486A>C | CA2747733551 | USH2A | c.4397-4T>G (n.4397-4T>G) | |
1 | g.216175487A= | CA1220588296 | USH2A | c.4397-5T= (n.4397-5T=) | |
1 | g.216175487A>G | CA1220588297 | USH2A | c.4397-5T>C (n.4397-5T>C) | dbSNP |
1 | g.216175488T>A | CA2747733552 | USH2A | c.4397-6A>T (n.4397-6A>T) | |
1 | g.216175488T>C | CA2499214515 | USH2A | c.4397-6A>G (n.4397-6A>G) | ClinVar dbSNP |
1 | g.216175489A= | CA1220588298 | USH2A | c.4397-7T= (n.4397-7T=) |