Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.21007191G>A | CA345989225 | APOB | c.9677C>T (p.Thr3226Ile) c.5869+3542C>T (n.5869+3542C>T) | |
2 | g.21007191G>C | CA345989223 | APOB | c.9677C>G (p.Thr3226Arg) c.5869+3542C>G (n.5869+3542C>G) | |
2 | g.21007191G>T | CA345989224 | APOB | c.9677C>A (p.Thr3226Lys) c.5869+3542C>A (n.5869+3542C>A) | |
2 | g.21007192T>A | CA345989226 | APOB | c.9676A>T (p.Thr3226Ser) c.5869+3541A>T (n.5869+3541A>T) | |
2 | g.21007192T>C | CA345989227 | APOB | c.9676A>G (p.Thr3226Ala) c.5869+3541A>G (n.5869+3541A>G) | |
2 | g.21007192T>G | CA345989228 | APOB | c.9676A>C (p.Thr3226Pro) c.5869+3541A>C (n.5869+3541A>C) | |
2 | g.21007193T>A | CA345989229 | APOB | c.9675A>T (p.Glu3225Asp) c.5869+3540A>T (n.5869+3540A>T) | |
2 | g.21007193T>C | CA425344137 | APOB | c.9675A>G (p.Glu3225=) c.5869+3540A>G (n.5869+3540A>G) | |
2 | g.21007193T>G | CA345989230 | APOB | c.9675A>C (p.Glu3225Asp) c.5869+3540A>C (n.5869+3540A>C) | |
2 | g.21007194T>A | CA345989231 | APOB | c.9674A>T (p.Glu3225Val) c.5869+3539A>T (n.5869+3539A>T) | |
2 | g.21007194T>C | CA345989233 | APOB | c.9674A>G (p.Glu3225Gly) c.5869+3539A>G (n.5869+3539A>G) | gnomAD v4 |
2 | g.21007194T>G | CA345989232 | APOB | c.9674A>C (p.Glu3225Ala) c.5869+3539A>C (n.5869+3539A>C) | |
2 | g.21007195C>A | CA345989234 | APOB | c.9673G>T (p.Glu3225Ter) c.5869+3538G>T (n.5869+3538G>T) | COSMIC |
2 | g.21007195C= | CA2493475143 | APOB | c.9673G= (p.Glu3225=) c.5869+3538G= (n.5869+3538G=) | |
2 | g.21007195C>G | CA345989235 | APOB | c.9673G>C (p.Glu3225Gln) c.5869+3538G>C (n.5869+3538G>C) | |
2 | g.21007195C>T | CA345989236 | APOB | c.9673G>A (p.Glu3225Lys) c.5869+3538G>A (n.5869+3538G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21007196A= | CA2493475144 | APOB | c.9672T= (p.Asn3224=) c.5869+3537T= (n.5869+3537T=) | |
2 | g.21007196A>C | CA345989237 | APOB | c.9672T>G (p.Asn3224Lys) c.5869+3537T>G (n.5869+3537T>G) | |
2 | g.21007196A>G | CA425344144 | APOB | c.9672T>C (p.Asn3224=) c.5869+3537T>C (n.5869+3537T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21007196A>T | CA345989238 | APOB | c.9672T>A (p.Asn3224Lys) c.5869+3537T>A (n.5869+3537T>A) | gnomAD v4 |
2 | g.21007197T>A | CA345989239 | APOB | c.9671A>T (p.Asn3224Ile) c.5869+3536A>T (n.5869+3536A>T) | |
2 | g.21007197T>C | CA345989240 | APOB | c.9671A>G (p.Asn3224Ser) c.5869+3536A>G (n.5869+3536A>G) | dbSNP gnomAD v4 |
2 | g.21007197T>G | CA345989241 | APOB | c.9671A>C (p.Asn3224Thr) c.5869+3536A>C (n.5869+3536A>C) | gnomAD v4 |
2 | g.21007197T= | CA2493475145 | APOB | c.9671A= (p.Asn3224=) c.5869+3536A= (n.5869+3536A=) | |
2 | g.21007198T>A | CA345989242 | APOB | c.9670A>T (p.Asn3224Tyr) c.5869+3535A>T (n.5869+3535A>T) | |
2 | g.21007198T>C | CA345989243 | APOB | c.9670A>G (p.Asn3224Asp) c.5869+3535A>G (n.5869+3535A>G) | |
2 | g.21007198T>G | CA345989244 | APOB | c.9670A>C (p.Asn3224His) c.5869+3535A>C (n.5869+3535A>C) | |
2 | g.21007199A>C | CA345989245 | APOB | c.9669T>G (p.Tyr3223Ter) c.5869+3534T>G (n.5869+3534T>G) | |
2 | g.21007199A>G | CA425344152 | APOB | c.9669T>C (p.Tyr3223=) c.5869+3534T>C (n.5869+3534T>C) | |
2 | g.21007199A>T | CA345989246 | APOB | c.9669T>A (p.Tyr3223Ter) c.5869+3534T>A (n.5869+3534T>A) | |
2 | g.21007200T>A | CA345989249 | APOB | c.9668A>T (p.Tyr3223Phe) c.5869+3533A>T (n.5869+3533A>T) | |
2 | g.21007200T>C | CA345989247 | APOB | c.9668A>G (p.Tyr3223Cys) c.5869+3533A>G (n.5869+3533A>G) | ClinVar gnomAD v4 |
2 | g.21007200T>G | CA345989248 | APOB | c.9668A>C (p.Tyr3223Ser) c.5869+3533A>C (n.5869+3533A>C) | |
2 | g.21007201A= | CA2493475146 | APOB | c.9667T= (p.Tyr3223=) c.5869+3532T= (n.5869+3532T=) | |
2 | g.21007201A>C | CA345989250 | APOB | c.9667T>G (p.Tyr3223Asp) c.5869+3532T>G (n.5869+3532T>G) | |
2 | g.21007201A>G | CA345989251 | APOB | c.9667T>C (p.Tyr3223His) c.5869+3532T>C (n.5869+3532T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.21007201A>T | CA345989252 | APOB | c.9667T>A (p.Tyr3223Asn) c.5869+3532T>A (n.5869+3532T>A) | |
2 | g.21007202G>A | CA425344154 | APOB | c.9666C>T (p.Ser3222=) c.5869+3531C>T (n.5869+3531C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21007202G>C | CA425344155 | APOB | c.9666C>G (p.Ser3222=) c.5869+3531C>G (n.5869+3531C>G) | |
2 | g.21007202G= | CA2493475147 | APOB | c.9666C= (p.Ser3222=) c.5869+3531C= (n.5869+3531C=) | |
2 | g.21007202G>T | CA425344156 | APOB | c.9666C>A (p.Ser3222=) c.5869+3531C>A (n.5869+3531C>A) | |
2 | g.21007203G>A | CA345989253 | APOB | c.9665C>T (p.Ser3222Phe) c.5869+3530C>T (n.5869+3530C>T) | COSMIC |
2 | g.21007203G>C | CA345989254 | APOB | c.9665C>G (p.Ser3222Cys) c.5869+3530C>G (n.5869+3530C>G) | dbSNP gnomAD v4 |
2 | g.21007203G= | CA2493475148 | APOB | c.9665C= (p.Ser3222=) c.5869+3530C= (n.5869+3530C=) | |
2 | g.21007203G>T | CA345989255 | APOB | c.9665C>A (p.Ser3222Tyr) c.5869+3530C>A (n.5869+3530C>A) | |
2 | g.21007204A= | CA2493475149 | APOB | c.9664T= (p.Ser3222=) c.5869+3529T= (n.5869+3529T=) | |
2 | g.21007204A>C | CA345989256 | APOB | c.9664T>G (p.Ser3222Ala) c.5869+3529T>G (n.5869+3529T>G) | |
2 | g.21007204A>G | CA066739 | APOB | c.9664T>C (p.Ser3222Pro) c.5869+3529T>C (n.5869+3529T>C) | dbSNP ExAC gnomAD v2 |
2 | g.21007204A>T | CA345989257 | APOB | c.9664T>A (p.Ser3222Thr) c.5869+3529T>A (n.5869+3529T>A) | |
2 | g.21007205T>A | CA345989258 | APOB | c.9663A>T (p.Lys3221Asn) c.5869+3528A>T (n.5869+3528A>T) |