Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47348424C>A | CA380334182 | MYBPC3 | c.772G>T (p.Glu258Ter) | ClinVar |
11 | g.47348424C= | CA1969341015 | MYBPC3 | c.772G= (p.Glu258=) | |
11 | g.47348424C>G | CA380334166 | MYBPC3 | c.772G>C (p.Glu258Gln) | ClinVar |
11 | g.47348424C>T | CA015823 | MYBPC3 | c.772G>A (p.Glu258Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47348425G>A | CA474221348 | MYBPC3 | c.771C>T (p.His257=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47348425G>C | CA380334184 | MYBPC3 | c.771C>G (p.His257Gln) | |
11 | g.47348425G= | CA1969341016 | MYBPC3 | c.771C= (p.His257=) | |
11 | g.47348425G>T | CA380334187 | MYBPC3 | c.771C>A (p.His257Gln) | |
11 | g.47348426T>A | CA380334192 | MYBPC3 | c.770A>T (p.His257Leu) | |
11 | g.47348426T>C | CA221703289 | MYBPC3 | c.770A>G (p.His257Arg) | ClinVar dbSNP gnomAD v4 |
11 | g.47348426T>G | CA380334199 | MYBPC3 | c.770A>C (p.His257Pro) | dbSNP |
11 | g.47348426T= | CA1969341017 | MYBPC3 | c.770A= (p.His257=) | |
11 | g.47348427G>A | CA380334204 | MYBPC3 | c.769C>T (p.His257Tyr) | |
11 | g.47348427G>C | CA380334207 | MYBPC3 | c.769C>G (p.His257Asp) | |
11 | g.47348427G= | CA1969341018 | MYBPC3 | c.769C= (p.His257=) | |
11 | g.47348427G>T | CA380334209 | MYBPC3 | c.769C>A (p.His257Asn) | dbSNP |
11 | g.47348428del | CA2574815967 | MYBPC3 | c.769del (p.His257ThrfsTer?) | |
11 | g.47348428G>A | CA474221349 | MYBPC3 | c.768C>T (p.Val256=) | |
11 | g.47348428G>C | CA474221350 | MYBPC3 | c.768C>G (p.Val256=) | |
11 | g.47348428G= | CA1969341019 | MYBPC3 | c.768C= (p.Val256=) | |
11 | g.47348428G>T | CA10639340 | MYBPC3 | c.768C>A (p.Val256=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47348429A>C | CA380334216 | MYBPC3 | c.767T>G (p.Val256Gly) | |
11 | g.47348429A>G | CA380334217 | MYBPC3 | c.767T>C (p.Val256Ala) | |
11 | g.47348429A>T | CA380334219 | MYBPC3 | c.767T>A (p.Val256Asp) | |
11 | g.47348430C>A | CA380334229 | MYBPC3 | c.766G>T (p.Val256Phe) | |
11 | g.47348430C= | CA1969341020 | MYBPC3 | c.766G= (p.Val256=) | |
11 | g.47348430C>G | CA380334232 | MYBPC3 | c.766G>C (p.Val256Leu) | |
11 | g.47348430C>T | CA380334225 | MYBPC3 | c.766G>A (p.Val256Ile) | dbSNP |
11 | g.47348431A= | CA1969341021 | MYBPC3 | c.765T= (p.Thr255=) | |
11 | g.47348431A>C | CA474221353 | MYBPC3 | c.765T>G (p.Thr255=) | gnomAD v4 |
11 | g.47348431A>G | CA474221351 | MYBPC3 | c.765T>C (p.Thr255=) | ClinVar dbSNP |
11 | g.47348431A>T | CA474221352 | MYBPC3 | c.765T>A (p.Thr255=) | |
11 | g.47348432G>A | CA380334236 | MYBPC3 | c.764C>T (p.Thr255Ile) | |
11 | g.47348432G>C | CA380334239 | MYBPC3 | c.764C>G (p.Thr255Ser) | |
11 | g.47348432G>T | CA380334241 | MYBPC3 | c.764C>A (p.Thr255Asn) | |
11 | g.47348433T>A | CA380334243 | MYBPC3 | c.763A>T (p.Thr255Ser) | |
11 | g.47348433T>C | CA380334245 | MYBPC3 | c.763A>G (p.Thr255Ala) | |
11 | g.47348433T>G | CA380334247 | MYBPC3 | c.763A>C (p.Thr255Pro) | ClinVar gnomAD v3 gnomAD v4 |
11 | g.47348434G>A | CA474221355 | MYBPC3 | c.762C>T (p.Leu254=) | |
11 | g.47348434G>C | CA474221356 | MYBPC3 | c.762C>G (p.Leu254=) | |
11 | g.47348434G>T | CA474221357 | MYBPC3 | c.762C>A (p.Leu254=) | |
11 | g.47348435A>C | CA380334255 | MYBPC3 | c.761T>G (p.Leu254Arg) | |
11 | g.47348435A>G | CA380334251 | MYBPC3 | c.761T>C (p.Leu254Pro) | |
11 | g.47348435A>T | CA380334253 | MYBPC3 | c.761T>A (p.Leu254His) | |
11 | g.47348436G>A | CA380334259 | MYBPC3 | c.760C>T (p.Leu254Phe) | |
11 | g.47348436G>C | CA380334269 | MYBPC3 | c.760C>G (p.Leu254Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47348436G= | CA1969341022 | MYBPC3 | c.760C= (p.Leu254=) | |
11 | g.47348436G>T | CA380334272 | MYBPC3 | c.760C>A (p.Leu254Ile) | |
11 | g.47348437A= | CA1969341023 | MYBPC3 | c.759T= (p.Asn253=) | |
11 | g.47348437A>C | CA380334275 | MYBPC3 | c.759T>G (p.Asn253Lys) |