Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38581177G>A | CA433332527 | SCN5A | c.2982C>T (p.Ala994=) c.2853C>T (p.Ala951=) | gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38581177G>C | CA433332528 | SCN5A | c.2982C>G (p.Ala994=) c.2853C>G (p.Ala951=) | |
3 | g.38581177G>T | CA433332529 | SCN5A | c.2982C>A (p.Ala994=) c.2853C>A (p.Ala951=) | gnomAD v4 |
3 | g.38581178G>A | CA352139981 | SCN5A | c.2981C>T (p.Ala994Val) c.2852C>T (p.Ala951Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38581178G>C | CA352139983 | SCN5A | c.2981C>G (p.Ala994Gly) c.2852C>G (p.Ala951Gly) | |
3 | g.38581178G= | CA1358574451 | SCN5A | c.2981C= (p.Ala994=) c.2852C= (p.Ala951=) | |
3 | g.38581178G>T | CA352139985 | SCN5A | c.2981C>A (p.Ala994Asp) c.2852C>A (p.Ala951Asp) | |
3 | g.38581179C>A | CA352139988 | SCN5A | c.2980G>T (p.Ala994Ser) c.2851G>T (p.Ala951Ser) | |
3 | g.38581179C= | CA1358574452 | SCN5A | c.2980G= (p.Ala994=) c.2851G= (p.Ala951=) | |
3 | g.38581179C>G | CA352139990 | SCN5A | c.2980G>C (p.Ala994Pro) c.2851G>C (p.Ala951Pro) | |
3 | g.38581179C>T | CA352139991 | SCN5A | c.2980G>A (p.Ala994Thr) c.2851G>A (p.Ala951Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38581180T>A | CA433332530 | SCN5A | c.2979A>T (p.Ala993=) c.2850A>T (p.Ala950=) | |
3 | g.38581180T>C | CA433332531 | SCN5A | c.2979A>G (p.Ala993=) c.2850A>G (p.Ala950=) | |
3 | g.38581180T>G | CA433332532 | SCN5A | c.2979A>C (p.Ala993=) c.2850A>C (p.Ala950=) | |
3 | g.38581181G>A | CA352139994 | SCN5A | c.2978C>T (p.Ala993Val) c.2849C>T (p.Ala950Val) | |
3 | g.38581181G>C | CA352139996 | SCN5A | c.2978C>G (p.Ala993Gly) c.2849C>G (p.Ala950Gly) | |
3 | g.38581181G>T | CA352139997 | SCN5A | c.2978C>A (p.Ala993Glu) c.2849C>A (p.Ala950Glu) | gnomAD v4 |
3 | g.38581182C>A | CA352139999 | SCN5A | c.2977G>T (p.Ala993Ser) c.2848G>T (p.Ala950Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38581182C= | CA1358574453 | SCN5A | c.2977G= (p.Ala993=) c.2848G= (p.Ala950=) | |
3 | g.38581182C>G | CA352140001 | SCN5A | c.2977G>C (p.Ala993Pro) c.2848G>C (p.Ala950Pro) | |
3 | g.38581182C>T | CA061107 | SCN5A | c.2977G>A (p.Ala993Thr) c.2848G>A (p.Ala950Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38581183G>A | CA016703 | SCN5A | c.2976C>T (p.Pro992=) c.2847C>T (p.Pro949=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38581183G>C | CA433332534 | SCN5A | c.2976C>G (p.Pro992=) c.2847C>G (p.Pro949=) | |
3 | g.38581183G= | CA1358574456 | SCN5A | c.2976C= (p.Pro992=) c.2847C= (p.Pro949=) | |
3 | g.38581183G>T | CA433332533 | SCN5A | c.2976C>A (p.Pro992=) c.2847C>A (p.Pro949=) | |
3 | g.38581185dup | CA2665113033 | SCN5A | c.2976dup (p.Ala993ArgfsTer?) c.2847dup (p.Ala950ArgfsTer?) | gnomAD v4 |
3 | g.38581184G>A | CA72926345 | SCN5A | c.2975C>T (p.Pro992Leu) c.2846C>T (p.Pro949Leu) | dbSNP gnomAD v4 |
3 | g.38581184G>C | CA352140006 | SCN5A | c.2975C>G (p.Pro992Arg) c.2846C>G (p.Pro949Arg) | |
3 | g.38581184G= | CA1358574458 | SCN5A | c.2975C= (p.Pro992=) c.2846C= (p.Pro949=) | |
3 | g.38581184G>T | CA352140010 | SCN5A | c.2975C>A (p.Pro992His) c.2846C>A (p.Pro949His) | gnomAD v4 |
3 | g.38581185G>A | CA352140013 | SCN5A | c.2974C>T (p.Pro992Ser) c.2845C>T (p.Pro949Ser) | |
3 | g.38581185G>C | CA352140015 | SCN5A | c.2974C>G (p.Pro992Ala) c.2845C>G (p.Pro949Ala) | |
3 | g.38581185G>T | CA352140017 | SCN5A | c.2974C>A (p.Pro992Thr) c.2845C>A (p.Pro949Thr) | ClinVar dbSNP |
3 | g.38581186C>A | CA352140019 | SCN5A | c.2973G>T (p.Lys991Asn) c.2844G>T (p.Lys948Asn) | dbSNP |
3 | g.38581186C= | CA1358574460 | SCN5A | c.2973G= (p.Lys991=) c.2844G= (p.Lys948=) | |
3 | g.38581186C>G | CA352140020 | SCN5A | c.2973G>C (p.Lys991Asn) c.2844G>C (p.Lys948Asn) | |
3 | g.38581186C>T | CA16617950 | SCN5A | c.2973G>A (p.Lys991=) c.2844G>A (p.Lys948=) | ClinVar dbSNP gnomAD v4 |
3 | g.38581187T>A | CA352140022 | SCN5A | c.2972A>T (p.Lys991Met) c.2843A>T (p.Lys948Met) | |
3 | g.38581187T>C | CA352140023 | SCN5A | c.2972A>G (p.Lys991Arg) c.2843A>G (p.Lys948Arg) | |
3 | g.38581187T>G | CA352140025 | SCN5A | c.2972A>C (p.Lys991Thr) c.2843A>C (p.Lys948Thr) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38581187T= | CA1358574462 | SCN5A | c.2972A= (p.Lys991=) c.2843A= (p.Lys948=) | |
3 | g.38581188T>A | CA352140028 | SCN5A | c.2971A>T (p.Lys991Ter) c.2842A>T (p.Lys948Ter) | dbSNP |
3 | g.38581188T>C | CA061101 | SCN5A | c.2971A>G (p.Lys991Glu) c.2842A>G (p.Lys948Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38581188T>G | CA352140030 | SCN5A | c.2971A>C (p.Lys991Gln) c.2842A>C (p.Lys948Gln) | |
3 | g.38581188T= | CA1358574464 | SCN5A | c.2971A= (p.Lys991=) c.2842A= (p.Lys948=) | |
3 | g.38581189C>A | CA352140035 | SCN5A | c.2970G>T (p.Gln990His) c.2841G>T (p.Gln947His) | |
3 | g.38581189C= | CA1358574465 | SCN5A | c.2970G= (p.Gln990=) c.2841G= (p.Gln947=) | |
3 | g.38581189C>G | CA352140033 | SCN5A | c.2970G>C (p.Gln990His) c.2841G>C (p.Gln947His) | |
3 | g.38581189C>T | CA061096 | SCN5A | c.2970G>A (p.Gln990=) c.2841G>A (p.Gln947=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38581190T>A | CA352140037 | SCN5A | c.2969A>T (p.Gln990Leu) c.2840A>T (p.Gln947Leu) |