Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.42060940C>A | CA10263608 | NAGA | c.1085G>T (p.Gly362Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42060940C= | CA2406547709 | NAGA | c.1085G= (p.Gly362=) | |
22 | g.42060940C>G | CA411766057 | NAGA | c.1085G>C (p.Gly362Ala) | |
22 | g.42060940C>T | CA10263609 | NAGA | c.1085G>A (p.Gly362Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42060941C>A | CA10263610 | NAGA | c.1084G>T (p.Gly362Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42060941C= | CA2406547710 | NAGA | c.1084G= (p.Gly362=) | |
22 | g.42060941C>G | CA411766058 | NAGA | c.1084G>C (p.Gly362Arg) | |
22 | g.42060941C>T | CA411766059 | NAGA | c.1084G>A (p.Gly362Arg) | ClinVar dbSNP gnomAD v4 |
22 | g.42060942G>A | CA10263611 | NAGA | c.1083C>T (p.Thr361=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42060942G>C | CA514676483 | NAGA | c.1083C>G (p.Thr361=) | gnomAD v4 |
22 | g.42060942G= | CA2406547711 | NAGA | c.1083C= (p.Thr361=) | |
22 | g.42060942G>T | CA514676482 | NAGA | c.1083C>A (p.Thr361=) | ClinVar |
22 | g.42060943G>A | CA411766062 | NAGA | c.1082C>T (p.Thr361Ile) | dbSNP |
22 | g.42060943G>C | CA411766061 | NAGA | c.1082C>G (p.Thr361Ser) | |
22 | g.42060943G= | CA2406547712 | NAGA | c.1082C= (p.Thr361=) | |
22 | g.42060943G>T | CA411766060 | NAGA | c.1082C>A (p.Thr361Asn) | |
22 | g.42060944T>A | CA411766063 | NAGA | c.1081A>T (p.Thr361Ser) | |
22 | g.42060944T>C | CA411766064 | NAGA | c.1081A>G (p.Thr361Ala) | gnomAD v4 |
22 | g.42060944T>G | CA411766065 | NAGA | c.1081A>C (p.Thr361Pro) | |
22 | g.42060945del | CA2657021381 | NAGA | c.1080del (p.Phe360LeufsTer5) | gnomAD v4 |
22 | g.42060945G>A | CA10263612 | NAGA | c.1080C>T (p.Phe360=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.42060945G>C | CA411766066 | NAGA | c.1080C>G (p.Phe360Leu) | |
22 | g.42060945G= | CA2406547713 | NAGA | c.1080C= (p.Phe360=) | |
22 | g.42060945G>T | CA411766067 | NAGA | c.1080C>A (p.Phe360Leu) | |
22 | g.42060946A>C | CA411766068 | NAGA | c.1079T>G (p.Phe360Cys) | |
22 | g.42060946A>G | CA411766070 | NAGA | c.1079T>C (p.Phe360Ser) | |
22 | g.42060946A>T | CA411766069 | NAGA | c.1079T>A (p.Phe360Tyr) | |
22 | g.42060947A>C | CA411766071 | NAGA | c.1078T>G (p.Phe360Val) | |
22 | g.42060947A>G | CA411766073 | NAGA | c.1078T>C (p.Phe360Leu) | |
22 | g.42060947A>T | CA411766072 | NAGA | c.1078T>A (p.Phe360Ile) | |
22 | g.42060948G>A | CA514676484 | NAGA | c.1077C>T (p.Asn359=) | |
22 | g.42060948G>C | CA411766074 | NAGA | c.1077C>G (p.Asn359Lys) | |
22 | g.42060948G>T | CA411766075 | NAGA | c.1077C>A (p.Asn359Lys) | |
22 | g.42060949T>A | CA411766076 | NAGA | c.1076A>T (p.Asn359Ile) | |
22 | g.42060949T>C | CA411766077 | NAGA | c.1076A>G (p.Asn359Ser) | |
22 | g.42060949T>G | CA411766078 | NAGA | c.1076A>C (p.Asn359Thr) | |
22 | g.42060950T>A | CA411766079 | NAGA | c.1075A>T (p.Asn359Tyr) | |
22 | g.42060950T>C | CA411766080 | NAGA | c.1075A>G (p.Asn359Asp) | |
22 | g.42060950T>G | CA411766081 | NAGA | c.1075A>C (p.Asn359His) | |
22 | g.42060951C>A | CA514676485 | NAGA | c.1074G>T (p.Leu358=) | |
22 | g.42060951C= | CA2406547714 | NAGA | c.1074G= (p.Leu358=) | |
22 | g.42060951C>G | CA514676486 | NAGA | c.1074G>C (p.Leu358=) | |
22 | g.42060951C>T | CA10263613 | NAGA | c.1074G>A (p.Leu358=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.42060952A>C | CA411766082 | NAGA | c.1073T>G (p.Leu358Arg) | |
22 | g.42060952A>G | CA411766083 | NAGA | c.1073T>C (p.Leu358Pro) | |
22 | g.42060952A>T | CA411766084 | NAGA | c.1073T>A (p.Leu358Gln) | |
22 | g.42060953G>A | CA514676487 | NAGA | c.1072C>T (p.Leu358=) | |
22 | g.42060953G>C | CA411766085 | NAGA | c.1072C>G (p.Leu358Val) | gnomAD v4 |
22 | g.42060953G>T | CA411766086 | NAGA | c.1072C>A (p.Leu358Met) | |
22 | g.42060954C>A | CA411766087 | NAGA | c.1071G>T (p.Gln357His) |