Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38608187G>A | CA352150118 | SCN5A | c.962C>T (p.Ser321Phe) c.833C>T (p.Ser278Phe) | ClinVar dbSNP gnomAD v4 |
3 | g.38608187G>C | CA352150119 | SCN5A | c.962C>G (p.Ser321Cys) c.833C>G (p.Ser278Cys) | |
3 | g.38608187G= | CA1358586952 | SCN5A | c.962C= (p.Ser321=) c.833C= (p.Ser278=) | |
3 | g.38608187G>T | CA352150120 | SCN5A | c.962C>A (p.Ser321Tyr) c.833C>A (p.Ser278Tyr) | COSMIC COSMIC COSMIC |
3 | g.38608188A>C | CA352150122 | SCN5A | c.961T>G (p.Ser321Ala) c.832T>G (p.Ser278Ala) | |
3 | g.38608188A>G | CA352150124 | SCN5A | c.961T>C (p.Ser321Pro) c.832T>C (p.Ser278Pro) | |
3 | g.38608188A>T | CA352150125 | SCN5A | c.961T>A (p.Ser321Thr) c.832T>A (p.Ser278Thr) | |
3 | g.38608189G>A | CA433138086 | SCN5A | c.960C>T (p.Thr320=) c.831C>T (p.Thr277=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38608189G>C | CA433138088 | SCN5A | c.960C>G (p.Thr320=) c.831C>G (p.Thr277=) | |
3 | g.38608189G= | CA1358586953 | SCN5A | c.960C= (p.Thr320=) c.831C= (p.Thr277=) | |
3 | g.38608189G>T | CA433138087 | SCN5A | c.960C>A (p.Thr320=) c.831C>A (p.Thr277=) | |
3 | g.38608190G>A | CA352150127 | SCN5A | c.959C>T (p.Thr320Ile) c.830C>T (p.Thr277Ile) | ClinVar |
3 | g.38608190G>C | CA352150128 | SCN5A | c.959C>G (p.Thr320Ser) c.830C>G (p.Thr277Ser) | |
3 | g.38608190G= | CA1358586954 | SCN5A | c.959C= (p.Thr320=) c.830C= (p.Thr277=) | |
3 | g.38608190G>T | CA019959 | SCN5A | c.959C>A (p.Thr320Asn) c.830C>A (p.Thr277Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38608191_38608201del | CA2665115801 | SCN5A | c.949_959del (p.Lys317LeufsTer2) c.820_830del (p.Lys274LeufsTer2) | gnomAD v4 |
3 | g.38608191T>A | CA352150130 | SCN5A | c.958A>T (p.Thr320Ser) c.829A>T (p.Thr277Ser) | |
3 | g.38608191T>C | CA352150132 | SCN5A | c.958A>G (p.Thr320Ala) c.829A>G (p.Thr277Ala) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38608191T>G | CA352150134 | SCN5A | c.958A>C (p.Thr320Pro) c.829A>C (p.Thr277Pro) | |
3 | g.38608191T= | CA1358586955 | SCN5A | c.958A= (p.Thr320=) c.829A= (p.Thr277=) | |
3 | g.38608192del | CA2577553542 | SCN5A | c.957del (p.Thr320ProfsTer23) c.828del (p.Thr277ProfsTer23) | |
3 | g.38608192G>A | CA433138092 | SCN5A | c.957C>T (p.Gly319=) c.828C>T (p.Gly276=) | |
3 | g.38608192G>C | CA433138093 | SCN5A | c.957C>G (p.Gly319=) c.828C>G (p.Gly276=) | |
3 | g.38608192G>T | CA433138094 | SCN5A | c.957C>A (p.Gly319=) c.828C>A (p.Gly276=) | |
3 | g.38608193C>A | CA352150136 | SCN5A | c.956G>T (p.Gly319Val) c.827G>T (p.Gly276Val) | |
3 | g.38608193C>G | CA352150138 | SCN5A | c.956G>C (p.Gly319Ala) c.827G>C (p.Gly276Ala) | |
3 | g.38608193C>T | CA352150140 | SCN5A | c.956G>A (p.Gly319Asp) c.827G>A (p.Gly276Asp) | gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38608194C>A | CA352150142 | SCN5A | c.955G>T (p.Gly319Cys) c.826G>T (p.Gly276Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38608194C= | CA1358586956 | SCN5A | c.955G= (p.Gly319=) c.826G= (p.Gly276=) | |
3 | g.38608194C>G | CA352150144 | SCN5A | c.955G>C (p.Gly319Arg) c.826G>C (p.Gly276Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38608194C>T | CA019955 | SCN5A | c.955G>A (p.Gly319Ser) c.826G>A (p.Gly276Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38608195G>A | CA065984 | SCN5A | c.954C>T (p.Asn318=) c.825C>T (p.Asn275=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38608195G>C | CA352150147 | SCN5A | c.954C>G (p.Asn318Lys) c.825C>G (p.Asn275Lys) | |
3 | g.38608195G= | CA1358586957 | SCN5A | c.954C= (p.Asn318=) c.825C= (p.Asn275=) | |
3 | g.38608195G>T | CA352150149 | SCN5A | c.954C>A (p.Asn318Lys) c.825C>A (p.Asn275Lys) | |
3 | g.38608196T>A | CA352150154 | SCN5A | c.953A>T (p.Asn318Ile) c.824A>T (p.Asn275Ile) | |
3 | g.38608196T>C | CA352150151 | SCN5A | c.953A>G (p.Asn318Ser) c.824A>G (p.Asn275Ser) | |
3 | g.38608196T>G | CA352150152 | SCN5A | c.953A>C (p.Asn318Thr) c.824A>C (p.Asn275Thr) | |
3 | g.38608197T>A | CA352150156 | SCN5A | c.952A>T (p.Asn318Tyr) c.823A>T (p.Asn275Tyr) | |
3 | g.38608197T>C | CA352150158 | SCN5A | c.952A>G (p.Asn318Asp) c.823A>G (p.Asn275Asp) | gnomAD v4 |
3 | g.38608197T>G | CA352150163 | SCN5A | c.952A>C (p.Asn318His) c.823A>C (p.Asn275His) | |
3 | g.38608198C>A | CA352150165 | SCN5A | c.951G>T (p.Lys317Asn) c.822G>T (p.Lys274Asn) | |
3 | g.38608198C= | CA1358586958 | SCN5A | c.951G= (p.Lys317=) c.822G= (p.Lys274=) | |
3 | g.38608198C>G | CA019950 | SCN5A | c.951G>C (p.Lys317Asn) c.822G>C (p.Lys274Asn) | ClinVar dbSNP |
3 | g.38608198C>T | CA433138096 | SCN5A | c.951G>A (p.Lys317=) c.822G>A (p.Lys274=) | |
3 | g.38608199T>A | CA352150168 | SCN5A | c.950A>T (p.Lys317Met) c.821A>T (p.Lys274Met) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38608199T>C | CA352150170 | SCN5A | c.950A>G (p.Lys317Arg) c.821A>G (p.Lys274Arg) | |
3 | g.38608199T>G | CA352150172 | SCN5A | c.950A>C (p.Lys317Thr) c.821A>C (p.Lys274Thr) | |
3 | g.38608199T= | CA1358586959 | SCN5A | c.950A= (p.Lys317=) c.821A= (p.Lys274=) | |
3 | g.38608200T>A | CA352150174 | SCN5A | c.949A>T (p.Lys317Ter) c.820A>T (p.Lys274Ter) | dbSNP |