Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.122341424_122341427del | CA2577870194 | CSTA | c.169-15_169-12del (n.169-15_169-12del) | |
3 | g.122341426T>C | CA2570039 | CSTA | c.169-13T>C (n.169-13T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122341426T= | CA1397907164 | CSTA | c.169-13T= (n.169-13T=) | |
3 | g.122341427A= | CA1397907165 | CSTA | c.169-12A= (n.169-12A=) | |
3 | g.122341427A>C | CA2570040 | CSTA | c.169-12A>C (n.169-12A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122341427A>G | CA2577870196 | CSTA | c.169-12A>G (n.169-12A>G) | |
3 | g.122341427A>T | CA2581901103 | CSTA | c.169-12A>T (n.169-12A>T) | |
3 | g.122341428A>C | CA2667232607 | CSTA | c.169-11A>C (n.169-11A>C) | gnomAD v4 |
3 | g.122341428A>G | CA2577870197 | CSTA | c.169-11A>G (n.169-11A>G) | |
3 | g.122341430A>G | CA2667232608 | CSTA | c.169-9A>G (n.169-9A>G) | gnomAD v4 |
3 | g.122341431T>C | CA2577870198 | CSTA | c.169-8T>C (n.169-8T>C) | |
3 | g.122341436C>A | CA2667232609 | CSTA | c.169-3C>A (n.169-3C>A) | gnomAD v4 |
3 | g.122341437A>C | CA354153051 | CSTA | c.169-2A>C (n.169-2A>C) | |
3 | g.122341437A>G | CA354153052 | CSTA | c.169-2A>G (n.169-2A>G) | |
3 | g.122341437A>T | CA354153054 | CSTA | c.169-2A>T (n.169-2A>T) | |
3 | g.122341438G>A | CA354153055 | CSTA | c.169-1G>A (n.169-1G>A) | |
3 | g.122341438G>C | CA354153057 | CSTA | c.169-1G>C (n.169-1G>C) | |
3 | g.122341438G>T | CA354153059 | CSTA | c.169-1G>T (n.169-1G>T) | |
3 | g.122341439G>A | CA354153060 | CSTA | c.169G>A (p.Val57Ile) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.122341439G>C | CA354153062 | CSTA | c.169G>C (p.Val57Leu) | |
3 | g.122341439G= | CA1397907166 | CSTA | c.169G= (p.Val57=) | |
3 | g.122341439G>T | CA354153064 | CSTA | c.169G>T (p.Val57Leu) | |
3 | g.122341440T>A | CA354153067 | CSTA | c.170T>A (p.Val57Glu) | |
3 | g.122341440T>C | CA354153069 | CSTA | c.170T>C (p.Val57Ala) | |
3 | g.122341440T>G | CA354153065 | CSTA | c.170T>G (p.Val57Gly) | |
3 | g.122341441A= | CA1397907167 | CSTA | c.171A= (p.Val57=) | |
3 | g.122341441A>C | CA435252069 | CSTA | c.171A>C (p.Val57=) | |
3 | g.122341441A>G | CA435252070 | CSTA | c.171A>G (p.Val57=) | dbSNP gnomAD v4 |
3 | g.122341441A>T | CA435252071 | CSTA | c.171A>T (p.Val57=) | |
3 | g.122341442C>A | CA435252072 | CSTA | c.172C>A (p.Arg58=) | |
3 | g.122341442C= | CA1397907168 | CSTA | c.172C= (p.Arg58=) | |
3 | g.122341442C>G | CA354153071 | CSTA | c.172C>G (p.Arg58Gly) | |
3 | g.122341442C>T | CA204467 | CSTA | c.172C>T (p.Arg58Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122341443G>A | CA2570041 | CSTA | c.173G>A (p.Arg58Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.122341443G>C | CA354153074 | CSTA | c.173G>C (p.Arg58Pro) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.122341443G= | CA1397907169 | CSTA | c.173G= (p.Arg58=) | |
3 | g.122341443G>T | CA2570042 | CSTA | c.173G>T (p.Arg58Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122341444A>C | CA435252073 | CSTA | c.174A>C (p.Arg58=) | |
3 | g.122341444A>G | CA435252074 | CSTA | c.174A>G (p.Arg58=) | |
3 | g.122341444A>T | CA435252075 | CSTA | c.174A>T (p.Arg58=) | |
3 | g.122341445G>A | CA354153080 | CSTA | c.175G>A (p.Ala59Thr) | |
3 | g.122341445G>C | CA354153079 | CSTA | c.175G>C (p.Ala59Pro) | |
3 | g.122341445G>T | CA354153077 | CSTA | c.175G>T (p.Ala59Ser) | |
3 | g.122341446C>A | CA354153082 | CSTA | c.176C>A (p.Ala59Glu) | |
3 | g.122341446C>G | CA354153084 | CSTA | c.176C>G (p.Ala59Gly) | |
3 | g.122341446C>T | CA354153085 | CSTA | c.176C>T (p.Ala59Val) | COSMIC |
3 | g.122341447A= | CA1397907170 | CSTA | c.177A= (p.Ala59=) | |
3 | g.122341447A>C | CA435252076 | CSTA | c.177A>C (p.Ala59=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.122341447A>G | CA435252077 | CSTA | c.177A>G (p.Ala59=) | |
3 | g.122341447A>T | CA435252078 | CSTA | c.177A>T (p.Ala59=) | dbSNP gnomAD v3 gnomAD v4 |