UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38554306A= | CA1358563074 | SCN5A | c.4783T= (p.Phe1595=) c.4786T= (p.Phe1596=) c.4732T= (p.Phe1578=) c.4624T= (p.Phe1542=) c.4714+69T= (n.4714+69T=) n.244T= c.4657T= (p.Phe1553=) c.4729T= (p.Phe1577=) | |
| 3 | g.38554306A>C | CA352143622 | SCN5A | c.4783T>G (p.Phe1595Val) c.4786T>G (p.Phe1596Val) c.4732T>G (p.Phe1578Val) c.4624T>G (p.Phe1542Val) c.4714+69T>G (n.4714+69T>G) n.244T>G c.4657T>G (p.Phe1553Val) c.4729T>G (p.Phe1577Val) | |
| 3 | g.38554306A>G | CA352143621 | SCN5A | c.4783T>C (p.Phe1595Leu) c.4786T>C (p.Phe1596Leu) c.4732T>C (p.Phe1578Leu) c.4624T>C (p.Phe1542Leu) c.4714+69T>C (n.4714+69T>C) n.244T>C c.4657T>C (p.Phe1553Leu) c.4729T>C (p.Phe1577Leu) | |
| 3 | g.38554306A>T | CA018565 | SCN5A | c.4783T>A (p.Phe1595Ile) c.4786T>A (p.Phe1596Ile) c.4732T>A (p.Phe1578Ile) c.4624T>A (p.Phe1542Ile) c.4714+69T>A (n.4714+69T>A) n.244T>A c.4657T>A (p.Phe1553Ile) c.4729T>A (p.Phe1577Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38554307G>A | CA433134509 | SCN5A | c.4782C>T (p.Asp1594=) c.4785C>T (p.Asp1595=) c.4731C>T (p.Asp1577=) c.4623C>T (p.Asp1541=) c.4714+68C>T (n.4714+68C>T) n.243C>T c.4656C>T (p.Asp1552=) c.4728C>T (p.Asp1576=) | |
| 3 | g.38554307G>C | CA352143623 | SCN5A | c.4782C>G (p.Asp1594Glu) c.4785C>G (p.Asp1595Glu) c.4731C>G (p.Asp1577Glu) c.4623C>G (p.Asp1541Glu) c.4714+68C>G (n.4714+68C>G) n.243C>G c.4656C>G (p.Asp1552Glu) c.4728C>G (p.Asp1576Glu) | |
| 3 | g.38554307G>T | CA352143624 | SCN5A | c.4782C>A (p.Asp1594Glu) c.4785C>A (p.Asp1595Glu) c.4731C>A (p.Asp1577Glu) c.4623C>A (p.Asp1541Glu) c.4714+68C>A (n.4714+68C>A) n.243C>A c.4656C>A (p.Asp1552Glu) c.4728C>A (p.Asp1576Glu) | |
| 3 | g.38554308T>A | CA352143625 | SCN5A | c.4781A>T (p.Asp1594Val) c.4784A>T (p.Asp1595Val) c.4730A>T (p.Asp1577Val) c.4622A>T (p.Asp1541Val) c.4714+67A>T (n.4714+67A>T) n.242A>T c.4655A>T (p.Asp1552Val) c.4727A>T (p.Asp1576Val) | |
| 3 | g.38554308T>C | CA352143626 | SCN5A | c.4781A>G (p.Asp1594Gly) c.4784A>G (p.Asp1595Gly) c.4730A>G (p.Asp1577Gly) c.4622A>G (p.Asp1541Gly) c.4714+67A>G (n.4714+67A>G) n.242A>G c.4655A>G (p.Asp1552Gly) c.4727A>G (p.Asp1576Gly) | |
| 3 | g.38554308T>G | CA352143627 | SCN5A | c.4781A>C (p.Asp1594Ala) c.4784A>C (p.Asp1595Ala) c.4730A>C (p.Asp1577Ala) c.4622A>C (p.Asp1541Ala) c.4714+67A>C (n.4714+67A>C) n.242A>C c.4655A>C (p.Asp1552Ala) c.4727A>C (p.Asp1576Ala) | |
| 3 | g.38554309C>A | CA352143628 | SCN5A | c.4780G>T (p.Asp1594Tyr) c.4783G>T (p.Asp1595Tyr) c.4729G>T (p.Asp1577Tyr) c.4621G>T (p.Asp1541Tyr) c.4714+66G>T (n.4714+66G>T) n.241G>T c.4654G>T (p.Asp1552Tyr) c.4726G>T (p.Asp1576Tyr) | |
| 3 | g.38554309C= | CA1358563085 | SCN5A | c.4780G= (p.Asp1594=) c.4783G= (p.Asp1595=) c.4729G= (p.Asp1577=) c.4621G= (p.Asp1541=) c.4714+66G= (n.4714+66G=) n.241G= c.4654G= (p.Asp1552=) c.4726G= (p.Asp1576=) | |
| 3 | g.38554309C>G | CA018558 | SCN5A | c.4780G>C (p.Asp1594His) c.4783G>C (p.Asp1595His) c.4729G>C (p.Asp1577His) c.4621G>C (p.Asp1541His) c.4714+66G>C (n.4714+66G>C) n.241G>C c.4654G>C (p.Asp1552His) c.4726G>C (p.Asp1576His) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38554309C>T | CA018551 | SCN5A | c.4780G>A (p.Asp1594Asn) c.4783G>A (p.Asp1595Asn) c.4729G>A (p.Asp1577Asn) c.4621G>A (p.Asp1541Asn) c.4714+66G>A (n.4714+66G>A) n.241G>A c.4654G>A (p.Asp1552Asn) c.4726G>A (p.Asp1576Asn) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38554310G>A | CA063597 | SCN5A | c.4779C>T (p.Phe1593=) c.4782C>T (p.Phe1594=) c.4728C>T (p.Phe1576=) c.4620C>T (p.Phe1540=) c.4714+65C>T (n.4714+65C>T) n.240C>T c.4653C>T (p.Phe1551=) c.4725C>T (p.Phe1575=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38554310G>C | CA352143629 | SCN5A | c.4779C>G (p.Phe1593Leu) c.4782C>G (p.Phe1594Leu) c.4728C>G (p.Phe1576Leu) c.4620C>G (p.Phe1540Leu) c.4714+65C>G (n.4714+65C>G) n.240C>G c.4653C>G (p.Phe1551Leu) c.4725C>G (p.Phe1575Leu) | |
| 3 | g.38554310G= | CA1358563095 | SCN5A | c.4779C= (p.Phe1593=) c.4782C= (p.Phe1594=) c.4728C= (p.Phe1576=) c.4620C= (p.Phe1540=) c.4714+65C= (n.4714+65C=) n.240C= c.4653C= (p.Phe1551=) c.4725C= (p.Phe1575=) | |
| 3 | g.38554310G>T | CA352143630 | SCN5A | c.4779C>A (p.Phe1593Leu) c.4782C>A (p.Phe1594Leu) c.4728C>A (p.Phe1576Leu) c.4620C>A (p.Phe1540Leu) c.4714+65C>A (n.4714+65C>A) n.240C>A c.4653C>A (p.Phe1551Leu) c.4725C>A (p.Phe1575Leu) | ClinVar dbSNP |
| 3 | g.38554311A= | CA1358563106 | SCN5A | c.4778T= (p.Phe1593=) c.4781T= (p.Phe1594=) c.4727T= (p.Phe1576=) c.4619T= (p.Phe1540=) c.4714+64T= (n.4714+64T=) n.239T= c.4652T= (p.Phe1551=) c.4724T= (p.Phe1575=) | |
| 3 | g.38554311A>C | CA352143632 | SCN5A | c.4778T>G (p.Phe1593Cys) c.4781T>G (p.Phe1594Cys) c.4727T>G (p.Phe1576Cys) c.4619T>G (p.Phe1540Cys) c.4714+64T>G (n.4714+64T>G) n.239T>G c.4652T>G (p.Phe1551Cys) c.4724T>G (p.Phe1575Cys) | |
| 3 | g.38554311A>G | CA018543 | SCN5A | c.4778T>C (p.Phe1593Ser) c.4781T>C (p.Phe1594Ser) c.4727T>C (p.Phe1576Ser) c.4619T>C (p.Phe1540Ser) c.4714+64T>C (n.4714+64T>C) n.239T>C c.4652T>C (p.Phe1551Ser) c.4724T>C (p.Phe1575Ser) | ClinVar dbSNP |
| 3 | g.38554311A>T | CA352143631 | SCN5A | c.4778T>A (p.Phe1593Tyr) c.4781T>A (p.Phe1594Tyr) c.4727T>A (p.Phe1576Tyr) c.4619T>A (p.Phe1540Tyr) c.4714+64T>A (n.4714+64T>A) n.239T>A c.4652T>A (p.Phe1551Tyr) c.4724T>A (p.Phe1575Tyr) | gnomAD v4 |
| 3 | g.38554312A= | CA1358563112 | SCN5A | c.4777T= (p.Phe1593=) c.4780T= (p.Phe1594=) c.4726T= (p.Phe1576=) c.4618T= (p.Phe1540=) c.4714+63T= (n.4714+63T=) n.238T= c.4651T= (p.Phe1551=) c.4723T= (p.Phe1575=) | |
| 3 | g.38554312A>C | CA352143634 | SCN5A | c.4777T>G (p.Phe1593Val) c.4780T>G (p.Phe1594Val) c.4726T>G (p.Phe1576Val) c.4618T>G (p.Phe1540Val) c.4714+63T>G (n.4714+63T>G) n.238T>G c.4651T>G (p.Phe1551Val) c.4723T>G (p.Phe1575Val) | |
| 3 | g.38554312A>G | CA72942416 | SCN5A | c.4777T>C (p.Phe1593Leu) c.4780T>C (p.Phe1594Leu) c.4726T>C (p.Phe1576Leu) c.4618T>C (p.Phe1540Leu) c.4714+63T>C (n.4714+63T>C) n.238T>C c.4651T>C (p.Phe1551Leu) c.4723T>C (p.Phe1575Leu) | dbSNP |
| 3 | g.38554312A>T | CA352143633 | SCN5A | c.4777T>A (p.Phe1593Ile) c.4780T>A (p.Phe1594Ile) c.4726T>A (p.Phe1576Ile) c.4618T>A (p.Phe1540Ile) c.4714+63T>A (n.4714+63T>A) n.238T>A c.4651T>A (p.Phe1551Ile) c.4723T>A (p.Phe1575Ile) | |
| 3 | g.38554313G>A | CA433134514 | SCN5A | c.4776C>T (p.Ile1592=) c.4779C>T (p.Ile1593=) c.4725C>T (p.Ile1575=) c.4617C>T (p.Ile1539=) c.4714+62C>T (n.4714+62C>T) n.237C>T c.4650C>T (p.Ile1550=) c.4722C>T (p.Ile1574=) | ClinVar dbSNP |
| 3 | g.38554313G>C | CA018537 | SCN5A | c.4776C>G (p.Ile1592Met) c.4779C>G (p.Ile1593Met) c.4725C>G (p.Ile1575Met) c.4617C>G (p.Ile1539Met) c.4714+62C>G (n.4714+62C>G) n.237C>G c.4650C>G (p.Ile1550Met) c.4722C>G (p.Ile1574Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38554313G= | CA1358563116 | SCN5A | c.4776C= (p.Ile1592=) c.4779C= (p.Ile1593=) c.4725C= (p.Ile1575=) c.4617C= (p.Ile1539=) c.4714+62C= (n.4714+62C=) n.237C= c.4650C= (p.Ile1550=) c.4722C= (p.Ile1574=) | |
| 3 | g.38554313G>T | CA433134515 | SCN5A | c.4776C>A (p.Ile1592=) c.4779C>A (p.Ile1593=) c.4725C>A (p.Ile1575=) c.4617C>A (p.Ile1539=) c.4714+62C>A (n.4714+62C>A) n.237C>A c.4650C>A (p.Ile1550=) c.4722C>A (p.Ile1574=) | gnomAD v4 |
| 3 | g.38554314A= | CA1358563119 | SCN5A | c.4775T= (p.Ile1592=) c.4778T= (p.Ile1593=) c.4724T= (p.Ile1575=) c.4616T= (p.Ile1539=) c.4714+61T= (n.4714+61T=) n.236T= c.4649T= (p.Ile1550=) c.4721T= (p.Ile1574=) | |
| 3 | g.38554314A>C | CA352143635 | SCN5A | c.4775T>G (p.Ile1592Ser) c.4778T>G (p.Ile1593Ser) c.4724T>G (p.Ile1575Ser) c.4616T>G (p.Ile1539Ser) c.4714+61T>G (n.4714+61T>G) n.236T>G c.4649T>G (p.Ile1550Ser) c.4721T>G (p.Ile1574Ser) | dbSNP |
| 3 | g.38554314A>G | CA352143636 | SCN5A | c.4775T>C (p.Ile1592Thr) c.4778T>C (p.Ile1593Thr) c.4724T>C (p.Ile1575Thr) c.4616T>C (p.Ile1539Thr) c.4714+61T>C (n.4714+61T>C) n.236T>C c.4649T>C (p.Ile1550Thr) c.4721T>C (p.Ile1574Thr) | ClinVar gnomAD v4 |
| 3 | g.38554314A>T | CA352143637 | SCN5A | c.4775T>A (p.Ile1592Asn) c.4778T>A (p.Ile1593Asn) c.4724T>A (p.Ile1575Asn) c.4616T>A (p.Ile1539Asn) c.4714+61T>A (n.4714+61T>A) n.236T>A c.4649T>A (p.Ile1550Asn) c.4721T>A (p.Ile1574Asn) | |
| 3 | g.38554315T>A | CA352143640 | SCN5A | c.4774A>T (p.Ile1592Phe) c.4777A>T (p.Ile1593Phe) c.4723A>T (p.Ile1575Phe) c.4615A>T (p.Ile1539Phe) c.4714+60A>T (n.4714+60A>T) n.235A>T c.4648A>T (p.Ile1550Phe) c.4720A>T (p.Ile1574Phe) | |
| 3 | g.38554315T>C | CA352143638 | SCN5A | c.4774A>G (p.Ile1592Val) c.4777A>G (p.Ile1593Val) c.4723A>G (p.Ile1575Val) c.4615A>G (p.Ile1539Val) c.4714+60A>G (n.4714+60A>G) n.235A>G c.4648A>G (p.Ile1550Val) c.4720A>G (p.Ile1574Val) | |
| 3 | g.38554315T>G | CA352143639 | SCN5A | c.4774A>C (p.Ile1592Leu) c.4777A>C (p.Ile1593Leu) c.4723A>C (p.Ile1575Leu) c.4615A>C (p.Ile1539Leu) c.4714+60A>C (n.4714+60A>C) n.235A>C c.4648A>C (p.Ile1550Leu) c.4720A>C (p.Ile1574Leu) | |
| 3 | g.38554316A>C | CA352143641 | SCN5A | c.4773T>G (p.Asn1591Lys) c.4776T>G (p.Asn1592Lys) c.4722T>G (p.Asn1574Lys) c.4614T>G (p.Asn1538Lys) c.4714+59T>G (n.4714+59T>G) n.234T>G c.4647T>G (p.Asn1549Lys) c.4719T>G (p.Asn1573Lys) | |
| 3 | g.38554316A>G | CA433134517 | SCN5A | c.4773T>C (p.Asn1591=) c.4776T>C (p.Asn1592=) c.4722T>C (p.Asn1574=) c.4614T>C (p.Asn1538=) c.4714+59T>C (n.4714+59T>C) n.234T>C c.4647T>C (p.Asn1549=) c.4719T>C (p.Asn1573=) | |
| 3 | g.38554316A>T | CA352143642 | SCN5A | c.4773T>A (p.Asn1591Lys) c.4776T>A (p.Asn1592Lys) c.4722T>A (p.Asn1574Lys) c.4614T>A (p.Asn1538Lys) c.4714+59T>A (n.4714+59T>A) n.234T>A c.4647T>A (p.Asn1549Lys) c.4719T>A (p.Asn1573Lys) | |
| 3 | g.38554317T>A | CA352143643 | SCN5A | c.4772A>T (p.Asn1591Ile) c.4775A>T (p.Asn1592Ile) c.4721A>T (p.Asn1574Ile) c.4613A>T (p.Asn1538Ile) c.4714+58A>T (n.4714+58A>T) n.233A>T c.4646A>T (p.Asn1549Ile) c.4718A>T (p.Asn1573Ile) | |
| 3 | g.38554317T>C | CA352143644 | SCN5A | c.4772A>G (p.Asn1591Ser) c.4775A>G (p.Asn1592Ser) c.4721A>G (p.Asn1574Ser) c.4613A>G (p.Asn1538Ser) c.4714+58A>G (n.4714+58A>G) n.233A>G c.4646A>G (p.Asn1549Ser) c.4718A>G (p.Asn1573Ser) | |
| 3 | g.38554317T>G | CA352143645 | SCN5A | c.4772A>C (p.Asn1591Thr) c.4775A>C (p.Asn1592Thr) c.4721A>C (p.Asn1574Thr) c.4613A>C (p.Asn1538Thr) c.4714+58A>C (n.4714+58A>C) n.233A>C c.4646A>C (p.Asn1549Thr) c.4718A>C (p.Asn1573Thr) | |
| 3 | g.38554318T>A | CA352143646 | SCN5A | c.4771A>T (p.Asn1591Tyr) c.4774A>T (p.Asn1592Tyr) c.4720A>T (p.Asn1574Tyr) c.4612A>T (p.Asn1538Tyr) c.4714+57A>T (n.4714+57A>T) n.232A>T c.4645A>T (p.Asn1549Tyr) c.4717A>T (p.Asn1573Tyr) | ClinVar dbSNP |
| 3 | g.38554318T>C | CA352143648 | SCN5A | c.4771A>G (p.Asn1591Asp) c.4774A>G (p.Asn1592Asp) c.4720A>G (p.Asn1574Asp) c.4612A>G (p.Asn1538Asp) c.4714+57A>G (n.4714+57A>G) n.232A>G c.4645A>G (p.Asn1549Asp) c.4717A>G (p.Asn1573Asp) | |
| 3 | g.38554318T>G | CA352143647 | SCN5A | c.4771A>C (p.Asn1591His) c.4774A>C (p.Asn1592His) c.4720A>C (p.Asn1574His) c.4612A>C (p.Asn1538His) c.4714+57A>C (n.4714+57A>C) n.232A>C c.4645A>C (p.Asn1549His) c.4717A>C (p.Asn1573His) | |
| 3 | g.38554318T= | CA1358563124 | SCN5A | c.4771A= (p.Asn1591=) c.4774A= (p.Asn1592=) c.4720A= (p.Asn1574=) c.4612A= (p.Asn1538=) c.4714+57A= (n.4714+57A=) n.232A= c.4645A= (p.Asn1549=) c.4717A= (p.Asn1573=) | |
| 3 | g.38554319C>A | CA352143649 | SCN5A | c.4770G>T (p.Trp1590Cys) c.4773G>T (p.Trp1591Cys) c.4719G>T (p.Trp1573Cys) c.4611G>T (p.Trp1537Cys) c.4714+56G>T (n.4714+56G>T) n.231G>T c.4644G>T (p.Trp1548Cys) c.4716G>T (p.Trp1572Cys) | |
| 3 | g.38554319C= | CA1358563129 | SCN5A | c.4770G= (p.Trp1590=) c.4773G= (p.Trp1591=) c.4719G= (p.Trp1573=) c.4611G= (p.Trp1537=) c.4714+56G= (n.4714+56G=) n.231G= c.4644G= (p.Trp1548=) c.4716G= (p.Trp1572=) | |
| 3 | g.38554319C>G | CA352143650 | SCN5A | c.4770G>C (p.Trp1590Cys) c.4773G>C (p.Trp1591Cys) c.4719G>C (p.Trp1573Cys) c.4611G>C (p.Trp1537Cys) c.4714+56G>C (n.4714+56G>C) n.231G>C c.4644G>C (p.Trp1548Cys) c.4716G>C (p.Trp1572Cys) | |
| 3 | g.38554319C>T | CA72942418 | SCN5A | c.4770G>A (p.Trp1590Ter) c.4773G>A (p.Trp1591Ter) c.4719G>A (p.Trp1573Ter) c.4611G>A (p.Trp1537Ter) c.4714+56G>A (n.4714+56G>A) n.231G>A c.4644G>A (p.Trp1548Ter) c.4716G>A (p.Trp1572Ter) | ClinVar dbSNP |
| 3 | g.38554320C>A | CA352143651 | SCN5A | c.4769G>T (p.Trp1590Leu) c.4772G>T (p.Trp1591Leu) c.4718G>T (p.Trp1573Leu) c.4610G>T (p.Trp1537Leu) c.4714+55G>T (n.4714+55G>T) n.230G>T c.4643G>T (p.Trp1548Leu) c.4715G>T (p.Trp1572Leu) | |
| 3 | g.38554320C= | CA1358563137 | SCN5A | c.4769G= (p.Trp1590=) c.4772G= (p.Trp1591=) c.4718G= (p.Trp1573=) c.4610G= (p.Trp1537=) c.4714+55G= (n.4714+55G=) n.230G= c.4643G= (p.Trp1548=) c.4715G= (p.Trp1572=) | |
| 3 | g.38554320C>G | CA352143653 | SCN5A | c.4769G>C (p.Trp1590Ser) c.4772G>C (p.Trp1591Ser) c.4718G>C (p.Trp1573Ser) c.4610G>C (p.Trp1537Ser) c.4714+55G>C (n.4714+55G>C) n.230G>C c.4643G>C (p.Trp1548Ser) c.4715G>C (p.Trp1572Ser) | |
| 3 | g.38554320C>T | CA279603 | SCN5A | c.4769G>A (p.Trp1590Ter) c.4772G>A (p.Trp1591Ter) c.4718G>A (p.Trp1573Ter) c.4610G>A (p.Trp1537Ter) c.4714+55G>A (n.4714+55G>A) n.230G>A c.4643G>A (p.Trp1548Ter) c.4715G>A (p.Trp1572Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38554321A>C | CA352143655 | SCN5A | c.4768T>G (p.Trp1590Gly) c.4771T>G (p.Trp1591Gly) c.4717T>G (p.Trp1573Gly) c.4609T>G (p.Trp1537Gly) c.4714+54T>G (n.4714+54T>G) n.229T>G c.4642T>G (p.Trp1548Gly) c.4714T>G (p.Trp1572Gly) | |
| 3 | g.38554321A>G | CA352143656 | SCN5A | c.4768T>C (p.Trp1590Arg) c.4771T>C (p.Trp1591Arg) c.4717T>C (p.Trp1573Arg) c.4609T>C (p.Trp1537Arg) c.4714+54T>C (n.4714+54T>C) n.229T>C c.4642T>C (p.Trp1548Arg) c.4714T>C (p.Trp1572Arg) | |
| 3 | g.38554321A>T | CA352143657 | SCN5A | c.4768T>A (p.Trp1590Arg) c.4771T>A (p.Trp1591Arg) c.4717T>A (p.Trp1573Arg) c.4609T>A (p.Trp1537Arg) c.4714+54T>A (n.4714+54T>A) n.229T>A c.4642T>A (p.Trp1548Arg) c.4714T>A (p.Trp1572Arg) | |
| 3 | g.38554322G>A | CA433134520 | SCN5A | c.4767C>T (p.Ser1589=) c.4770C>T (p.Ser1590=) c.4716C>T (p.Ser1572=) c.4608C>T (p.Ser1536=) c.4714+53C>T (n.4714+53C>T) n.228C>T c.4641C>T (p.Ser1547=) c.4713C>T (p.Ser1571=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38554322G>C | CA352143658 | SCN5A | c.4767C>G (p.Ser1589Arg) c.4770C>G (p.Ser1590Arg) c.4716C>G (p.Ser1572Arg) c.4608C>G (p.Ser1536Arg) c.4714+53C>G (n.4714+53C>G) n.228C>G c.4641C>G (p.Ser1547Arg) c.4713C>G (p.Ser1571Arg) | |
| 3 | g.38554322G= | CA1358563144 | SCN5A | c.4767C= (p.Ser1589=) c.4770C= (p.Ser1590=) c.4716C= (p.Ser1572=) c.4608C= (p.Ser1536=) c.4714+53C= (n.4714+53C=) n.228C= c.4641C= (p.Ser1547=) c.4713C= (p.Ser1571=) | |
| 3 | g.38554322G>T | CA352143659 | SCN5A | c.4767C>A (p.Ser1589Arg) c.4770C>A (p.Ser1590Arg) c.4716C>A (p.Ser1572Arg) c.4608C>A (p.Ser1536Arg) c.4714+53C>A (n.4714+53C>A) n.228C>A c.4641C>A (p.Ser1547Arg) c.4713C>A (p.Ser1571Arg) | |
| 3 | g.38554323C>A | CA352143661 | SCN5A | c.4766G>T (p.Ser1589Ile) c.4769G>T (p.Ser1590Ile) c.4715G>T (p.Ser1572Ile) c.4607G>T (p.Ser1536Ile) c.4714+52G>T (n.4714+52G>T) n.227G>T c.4640G>T (p.Ser1547Ile) c.4712G>T (p.Ser1571Ile) | |
| 3 | g.38554323C>G | CA352143662 | SCN5A | c.4766G>C (p.Ser1589Thr) c.4769G>C (p.Ser1590Thr) c.4715G>C (p.Ser1572Thr) c.4607G>C (p.Ser1536Thr) c.4714+52G>C (n.4714+52G>C) n.227G>C c.4640G>C (p.Ser1547Thr) c.4712G>C (p.Ser1571Thr) | |
| 3 | g.38554323C>T | CA352143660 | SCN5A | c.4766G>A (p.Ser1589Asn) c.4769G>A (p.Ser1590Asn) c.4715G>A (p.Ser1572Asn) c.4607G>A (p.Ser1536Asn) c.4714+52G>A (n.4714+52G>A) n.227G>A c.4640G>A (p.Ser1547Asn) c.4712G>A (p.Ser1571Asn) | COSMIC COSMIC COSMIC |
| 3 | g.38554324T>A | CA352143663 | SCN5A | c.4765A>T (p.Ser1589Cys) c.4768A>T (p.Ser1590Cys) c.4714A>T (p.Ser1572Cys) c.4606A>T (p.Ser1536Cys) c.4714+51A>T (n.4714+51A>T) n.226A>T c.4639A>T (p.Ser1547Cys) c.4711A>T (p.Ser1571Cys) | |
| 3 | g.38554324T>C | CA352143665 | SCN5A | c.4765A>G (p.Ser1589Gly) c.4768A>G (p.Ser1590Gly) c.4714A>G (p.Ser1572Gly) c.4606A>G (p.Ser1536Gly) c.4714+51A>G (n.4714+51A>G) n.226A>G c.4639A>G (p.Ser1547Gly) c.4711A>G (p.Ser1571Gly) | |
| 3 | g.38554324T>G | CA352143664 | SCN5A | c.4765A>C (p.Ser1589Arg) c.4768A>C (p.Ser1590Arg) c.4714A>C (p.Ser1572Arg) c.4606A>C (p.Ser1536Arg) c.4714+51A>C (n.4714+51A>C) n.226A>C c.4639A>C (p.Ser1547Arg) c.4711A>C (p.Ser1571Arg) | |
| 3 | g.38554325G>A | CA433134521 | SCN5A | c.4764C>T (p.Asn1588=) c.4767C>T (p.Asn1589=) c.4713C>T (p.Asn1571=) c.4605C>T (p.Asn1535=) c.4714+50C>T (n.4714+50C>T) n.225C>T c.4638C>T (p.Asn1546=) c.4710C>T (p.Asn1570=) | ClinVar |
| 3 | g.38554325G>C | CA352143666 | SCN5A | c.4764C>G (p.Asn1588Lys) c.4767C>G (p.Asn1589Lys) c.4713C>G (p.Asn1571Lys) c.4605C>G (p.Asn1535Lys) c.4714+50C>G (n.4714+50C>G) n.225C>G c.4638C>G (p.Asn1546Lys) c.4710C>G (p.Asn1570Lys) | |
| 3 | g.38554325G>T | CA352143667 | SCN5A | c.4764C>A (p.Asn1588Lys) c.4767C>A (p.Asn1589Lys) c.4713C>A (p.Asn1571Lys) c.4605C>A (p.Asn1535Lys) c.4714+50C>A (n.4714+50C>A) n.225C>A c.4638C>A (p.Asn1546Lys) c.4710C>A (p.Asn1570Lys) | |
| 3 | g.38554326T>A | CA352143668 | SCN5A | c.4763A>T (p.Asn1588Ile) c.4766A>T (p.Asn1589Ile) c.4712A>T (p.Asn1571Ile) c.4604A>T (p.Asn1535Ile) c.4714+49A>T (n.4714+49A>T) n.224A>T c.4637A>T (p.Asn1546Ile) c.4709A>T (p.Asn1570Ile) | |
| 3 | g.38554326T>C | CA352143669 | SCN5A | c.4763A>G (p.Asn1588Ser) c.4766A>G (p.Asn1589Ser) c.4712A>G (p.Asn1571Ser) c.4604A>G (p.Asn1535Ser) c.4714+49A>G (n.4714+49A>G) n.224A>G c.4637A>G (p.Asn1546Ser) c.4709A>G (p.Asn1570Ser) | gnomAD v4 |
| 3 | g.38554326T>G | CA352143670 | SCN5A | c.4763A>C (p.Asn1588Thr) c.4766A>C (p.Asn1589Thr) c.4712A>C (p.Asn1571Thr) c.4604A>C (p.Asn1535Thr) c.4714+49A>C (n.4714+49A>C) n.224A>C c.4637A>C (p.Asn1546Thr) c.4709A>C (p.Asn1570Thr) | |
| 3 | g.38554327T>A | CA352143671 | SCN5A | c.4762A>T (p.Asn1588Tyr) c.4765A>T (p.Asn1589Tyr) c.4711A>T (p.Asn1571Tyr) c.4603A>T (p.Asn1535Tyr) c.4714+48A>T (n.4714+48A>T) n.223A>T c.4636A>T (p.Asn1546Tyr) c.4708A>T (p.Asn1570Tyr) | |
| 3 | g.38554327T>C | CA352143672 | SCN5A | c.4762A>G (p.Asn1588Asp) c.4765A>G (p.Asn1589Asp) c.4711A>G (p.Asn1571Asp) c.4603A>G (p.Asn1535Asp) c.4714+48A>G (n.4714+48A>G) n.223A>G c.4636A>G (p.Asn1546Asp) c.4708A>G (p.Asn1570Asp) | |
| 3 | g.38554327T>G | CA352143673 | SCN5A | c.4762A>C (p.Asn1588His) c.4765A>C (p.Asn1589His) c.4711A>C (p.Asn1571His) c.4603A>C (p.Asn1535His) c.4714+48A>C (n.4714+48A>C) n.223A>C c.4636A>C (p.Asn1546His) c.4708A>C (p.Asn1570His) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38554327T= | CA1358563147 | SCN5A | c.4762A= (p.Asn1588=) c.4765A= (p.Asn1589=) c.4711A= (p.Asn1571=) c.4603A= (p.Asn1535=) c.4714+48A= (n.4714+48A=) n.223A= c.4636A= (p.Asn1546=) c.4708A= (p.Asn1570=) | |
| 3 | g.38554328G>A | CA433134523 | SCN5A | c.4761C>T (p.Thr1587=) c.4764C>T (p.Thr1588=) c.4710C>T (p.Thr1570=) c.4602C>T (p.Thr1534=) c.4714+47C>T (n.4714+47C>T) n.222C>T c.4635C>T (p.Thr1545=) c.4707C>T (p.Thr1569=) | ClinVar |
| 3 | g.38554328G>C | CA433134524 | SCN5A | c.4761C>G (p.Thr1587=) c.4764C>G (p.Thr1588=) c.4710C>G (p.Thr1570=) c.4602C>G (p.Thr1534=) c.4714+47C>G (n.4714+47C>G) n.222C>G c.4635C>G (p.Thr1545=) c.4707C>G (p.Thr1569=) | |
| 3 | g.38554328G>T | CA433134525 | SCN5A | c.4761C>A (p.Thr1587=) c.4764C>A (p.Thr1588=) c.4710C>A (p.Thr1570=) c.4602C>A (p.Thr1534=) c.4714+47C>A (n.4714+47C>A) n.222C>A c.4635C>A (p.Thr1545=) c.4707C>A (p.Thr1569=) | |
| 3 | g.38554329G>A | CA352143674 | SCN5A | c.4760C>T (p.Thr1587Ile) c.4763C>T (p.Thr1588Ile) c.4709C>T (p.Thr1570Ile) c.4601C>T (p.Thr1534Ile) c.4714+46C>T (n.4714+46C>T) n.221C>T c.4634C>T (p.Thr1545Ile) c.4706C>T (p.Thr1569Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38554329G>C | CA352143675 | SCN5A | c.4760C>G (p.Thr1587Ser) c.4763C>G (p.Thr1588Ser) c.4709C>G (p.Thr1570Ser) c.4601C>G (p.Thr1534Ser) c.4714+46C>G (n.4714+46C>G) n.221C>G c.4634C>G (p.Thr1545Ser) c.4706C>G (p.Thr1569Ser) | |
| 3 | g.38554329G= | CA1358563149 | SCN5A | c.4760C= (p.Thr1587=) c.4763C= (p.Thr1588=) c.4709C= (p.Thr1570=) c.4601C= (p.Thr1534=) c.4714+46C= (n.4714+46C=) n.221C= c.4634C= (p.Thr1545=) c.4706C= (p.Thr1569=) | |
| 3 | g.38554329G>T | CA352143676 | SCN5A | c.4760C>A (p.Thr1587Asn) c.4763C>A (p.Thr1588Asn) c.4709C>A (p.Thr1570Asn) c.4601C>A (p.Thr1534Asn) c.4714+46C>A (n.4714+46C>A) n.221C>A c.4634C>A (p.Thr1545Asn) c.4706C>A (p.Thr1569Asn) | dbSNP |
| 3 | g.38554330T>A | CA352143679 | SCN5A | c.4759A>T (p.Thr1587Ser) c.4762A>T (p.Thr1588Ser) c.4708A>T (p.Thr1570Ser) c.4600A>T (p.Thr1534Ser) c.4714+45A>T (n.4714+45A>T) n.220A>T c.4633A>T (p.Thr1545Ser) c.4705A>T (p.Thr1569Ser) | |
| 3 | g.38554330T>C | CA352143677 | SCN5A | c.4759A>G (p.Thr1587Ala) c.4762A>G (p.Thr1588Ala) c.4708A>G (p.Thr1570Ala) c.4600A>G (p.Thr1534Ala) c.4714+45A>G (n.4714+45A>G) n.220A>G c.4633A>G (p.Thr1545Ala) c.4705A>G (p.Thr1569Ala) | |
| 3 | g.38554330T>G | CA352143678 | SCN5A | c.4759A>C (p.Thr1587Pro) c.4762A>C (p.Thr1588Pro) c.4708A>C (p.Thr1570Pro) c.4600A>C (p.Thr1534Pro) c.4714+45A>C (n.4714+45A>C) n.220A>C c.4633A>C (p.Thr1545Pro) c.4705A>C (p.Thr1569Pro) | |
| 3 | g.38554331G>A | CA433134528 | SCN5A | c.4758C>T (p.Phe1586=) c.4761C>T (p.Phe1587=) c.4707C>T (p.Phe1569=) c.4599C>T (p.Phe1533=) c.4714+44C>T (n.4714+44C>T) n.219C>T c.4632C>T (p.Phe1544=) c.4704C>T (p.Phe1568=) | |
| 3 | g.38554331G>C | CA352143680 | SCN5A | c.4758C>G (p.Phe1586Leu) c.4761C>G (p.Phe1587Leu) c.4707C>G (p.Phe1569Leu) c.4599C>G (p.Phe1533Leu) c.4714+44C>G (n.4714+44C>G) n.219C>G c.4632C>G (p.Phe1544Leu) c.4704C>G (p.Phe1568Leu) | |
| 3 | g.38554331G>T | CA352143681 | SCN5A | c.4758C>A (p.Phe1586Leu) c.4761C>A (p.Phe1587Leu) c.4707C>A (p.Phe1569Leu) c.4599C>A (p.Phe1533Leu) c.4714+44C>A (n.4714+44C>A) n.219C>A c.4632C>A (p.Phe1544Leu) c.4704C>A (p.Phe1568Leu) | |
| 3 | g.38554332_38554334del | CA2665110265 | SCN5A | c.4756_4758del (p.Phe1586del) c.4759_4761del (p.Phe1587del) c.4705_4707del (p.Phe1569del) c.4597_4599del (p.Phe1533del) c.4714+42_4714+44del (n.4714+42_4714+44del) n.217_219del c.4630_4632del (p.Phe1544del) c.4702_4704del (p.Phe1568del) | gnomAD v4 |
| 3 | g.38554332A>C | CA352143682 | SCN5A | c.4757T>G (p.Phe1586Cys) c.4760T>G (p.Phe1587Cys) c.4706T>G (p.Phe1569Cys) c.4598T>G (p.Phe1533Cys) c.4714+43T>G (n.4714+43T>G) n.218T>G c.4631T>G (p.Phe1544Cys) c.4703T>G (p.Phe1568Cys) | |
| 3 | g.38554332A>G | CA352143683 | SCN5A | c.4757T>C (p.Phe1586Ser) c.4760T>C (p.Phe1587Ser) c.4706T>C (p.Phe1569Ser) c.4598T>C (p.Phe1533Ser) c.4714+43T>C (n.4714+43T>C) n.218T>C c.4631T>C (p.Phe1544Ser) c.4703T>C (p.Phe1568Ser) | |
| 3 | g.38554332A>T | CA352143684 | SCN5A | c.4757T>A (p.Phe1586Tyr) c.4760T>A (p.Phe1587Tyr) c.4706T>A (p.Phe1569Tyr) c.4598T>A (p.Phe1533Tyr) c.4714+43T>A (n.4714+43T>A) n.218T>A c.4631T>A (p.Phe1544Tyr) c.4703T>A (p.Phe1568Tyr) | |
| 3 | g.38554333A= | CA1358563152 | SCN5A | c.4756T= (p.Phe1586=) c.4759T= (p.Phe1587=) c.4705T= (p.Phe1569=) c.4597T= (p.Phe1533=) c.4714+42T= (n.4714+42T=) n.217T= c.4630T= (p.Phe1544=) c.4702T= (p.Phe1568=) | |
| 3 | g.38554333A>C | CA352143685 | SCN5A | c.4756T>G (p.Phe1586Val) c.4759T>G (p.Phe1587Val) c.4705T>G (p.Phe1569Val) c.4597T>G (p.Phe1533Val) c.4714+42T>G (n.4714+42T>G) n.217T>G c.4630T>G (p.Phe1544Val) c.4702T>G (p.Phe1568Val) | dbSNP gnomAD v2 |
| 3 | g.38554333A>G | CA352143686 | SCN5A | c.4756T>C (p.Phe1586Leu) c.4759T>C (p.Phe1587Leu) c.4705T>C (p.Phe1569Leu) c.4597T>C (p.Phe1533Leu) c.4714+42T>C (n.4714+42T>C) n.217T>C c.4630T>C (p.Phe1544Leu) c.4702T>C (p.Phe1568Leu) | |
| 3 | g.38554333A>T | CA352143687 | SCN5A | c.4756T>A (p.Phe1586Ile) c.4759T>A (p.Phe1587Ile) c.4705T>A (p.Phe1569Ile) c.4597T>A (p.Phe1533Ile) c.4714+42T>A (n.4714+42T>A) n.217T>A c.4630T>A (p.Phe1544Ile) c.4702T>A (p.Phe1568Ile) | |
| 3 | g.38554334G>A | CA433134530 | SCN5A | c.4755C>T (p.Tyr1585=) c.4758C>T (p.Tyr1586=) c.4704C>T (p.Tyr1568=) c.4596C>T (p.Tyr1532=) c.4714+41C>T (n.4714+41C>T) n.216C>T c.4629C>T (p.Tyr1543=) c.4701C>T (p.Tyr1567=) | ClinVar dbSNP |
| 3 | g.38554334G>C | CA352143688 | SCN5A | c.4755C>G (p.Tyr1585Ter) c.4758C>G (p.Tyr1586Ter) c.4704C>G (p.Tyr1568Ter) c.4596C>G (p.Tyr1532Ter) c.4714+41C>G (n.4714+41C>G) n.216C>G c.4629C>G (p.Tyr1543Ter) c.4701C>G (p.Tyr1567Ter) | |
| 3 | g.38554334G>T | CA352143689 | SCN5A | c.4755C>A (p.Tyr1585Ter) c.4758C>A (p.Tyr1586Ter) c.4704C>A (p.Tyr1568Ter) c.4596C>A (p.Tyr1532Ter) c.4714+41C>A (n.4714+41C>A) n.216C>A c.4629C>A (p.Tyr1543Ter) c.4701C>A (p.Tyr1567Ter) | COSMIC COSMIC COSMIC |
| 3 | g.38554335T>A | CA352143691 | SCN5A | c.4754A>T (p.Tyr1585Phe) c.4757A>T (p.Tyr1586Phe) c.4703A>T (p.Tyr1568Phe) c.4595A>T (p.Tyr1532Phe) c.4714+40A>T (n.4714+40A>T) n.215A>T c.4628A>T (p.Tyr1543Phe) c.4700A>T (p.Tyr1567Phe) | |
| 3 | g.38554335T>C | CA352143692 | SCN5A | c.4754A>G (p.Tyr1585Cys) c.4757A>G (p.Tyr1586Cys) c.4703A>G (p.Tyr1568Cys) c.4595A>G (p.Tyr1532Cys) c.4714+40A>G (n.4714+40A>G) n.215A>G c.4628A>G (p.Tyr1543Cys) c.4700A>G (p.Tyr1567Cys) | gnomAD v4 |
| 3 | g.38554335T>G | CA352143690 | SCN5A | c.4754A>C (p.Tyr1585Ser) c.4757A>C (p.Tyr1586Ser) c.4703A>C (p.Tyr1568Ser) c.4595A>C (p.Tyr1532Ser) c.4714+40A>C (n.4714+40A>C) n.215A>C c.4628A>C (p.Tyr1543Ser) c.4700A>C (p.Tyr1567Ser) | |
| 3 | g.38554336A>C | CA352143693 | SCN5A | c.4753T>G (p.Tyr1585Asp) c.4756T>G (p.Tyr1586Asp) c.4702T>G (p.Tyr1568Asp) c.4594T>G (p.Tyr1532Asp) c.4714+39T>G (n.4714+39T>G) n.214T>G c.4627T>G (p.Tyr1543Asp) c.4699T>G (p.Tyr1567Asp) | |
| 3 | g.38554336A>G | CA352143694 | SCN5A | c.4753T>C (p.Tyr1585His) c.4756T>C (p.Tyr1586His) c.4702T>C (p.Tyr1568His) c.4594T>C (p.Tyr1532His) c.4714+39T>C (n.4714+39T>C) n.214T>C c.4627T>C (p.Tyr1543His) c.4699T>C (p.Tyr1567His) | |
| 3 | g.38554336A>T | CA352143695 | SCN5A | c.4753T>A (p.Tyr1585Asn) c.4756T>A (p.Tyr1586Asn) c.4702T>A (p.Tyr1568Asn) c.4594T>A (p.Tyr1532Asn) c.4714+39T>A (n.4714+39T>A) n.214T>A c.4627T>A (p.Tyr1543Asn) c.4699T>A (p.Tyr1567Asn) | |
| 3 | g.38554337G>A | CA433134537 | SCN5A | c.4752C>T (p.Tyr1584=) c.4755C>T (p.Tyr1585=) c.4701C>T (p.Tyr1567=) c.4593C>T (p.Tyr1531=) c.4714+38C>T (n.4714+38C>T) n.213C>T c.4626C>T (p.Tyr1542=) c.4698C>T (p.Tyr1566=) | dbSNP |
| 3 | g.38554337G>C | CA352143696 | SCN5A | c.4752C>G (p.Tyr1584Ter) c.4755C>G (p.Tyr1585Ter) c.4701C>G (p.Tyr1567Ter) c.4593C>G (p.Tyr1531Ter) c.4714+38C>G (n.4714+38C>G) n.213C>G c.4626C>G (p.Tyr1542Ter) c.4698C>G (p.Tyr1566Ter) | |
| 3 | g.38554337G>T | CA352143697 | SCN5A | c.4752C>A (p.Tyr1584Ter) c.4755C>A (p.Tyr1585Ter) c.4701C>A (p.Tyr1567Ter) c.4593C>A (p.Tyr1531Ter) c.4714+38C>A (n.4714+38C>A) n.213C>A c.4626C>A (p.Tyr1542Ter) c.4698C>A (p.Tyr1566Ter) | |
| 3 | g.38554338T>A | CA352143698 | SCN5A | c.4751A>T (p.Tyr1584Phe) c.4754A>T (p.Tyr1585Phe) c.4700A>T (p.Tyr1567Phe) c.4592A>T (p.Tyr1531Phe) c.4714+37A>T (n.4714+37A>T) n.212A>T c.4625A>T (p.Tyr1542Phe) c.4697A>T (p.Tyr1566Phe) | |
| 3 | g.38554338T>C | CA018532 | SCN5A | c.4751A>G (p.Tyr1584Cys) c.4754A>G (p.Tyr1585Cys) c.4700A>G (p.Tyr1567Cys) c.4592A>G (p.Tyr1531Cys) c.4714+37A>G (n.4714+37A>G) n.212A>G c.4625A>G (p.Tyr1542Cys) c.4697A>G (p.Tyr1566Cys) | ClinVar dbSNP ExAC gnomAD v2 |
| 3 | g.38554338T>G | CA352143699 | SCN5A | c.4751A>C (p.Tyr1584Ser) c.4754A>C (p.Tyr1585Ser) c.4700A>C (p.Tyr1567Ser) c.4592A>C (p.Tyr1531Ser) c.4714+37A>C (n.4714+37A>C) n.212A>C c.4625A>C (p.Tyr1542Ser) c.4697A>C (p.Tyr1566Ser) | |
| 3 | g.38554338T= | CA1358563156 | SCN5A | c.4751A= (p.Tyr1584=) c.4754A= (p.Tyr1585=) c.4700A= (p.Tyr1567=) c.4592A= (p.Tyr1531=) c.4714+37A= (n.4714+37A=) n.212A= c.4625A= (p.Tyr1542=) c.4697A= (p.Tyr1566=) | |
| 3 | g.38554339A>C | CA352143700 | SCN5A | c.4750T>G (p.Tyr1584Asp) c.4753T>G (p.Tyr1585Asp) c.4699T>G (p.Tyr1567Asp) c.4591T>G (p.Tyr1531Asp) c.4714+36T>G (n.4714+36T>G) n.211T>G c.4624T>G (p.Tyr1542Asp) c.4696T>G (p.Tyr1566Asp) | |
| 3 | g.38554339A>G | CA352143701 | SCN5A | c.4750T>C (p.Tyr1584His) c.4753T>C (p.Tyr1585His) c.4699T>C (p.Tyr1567His) c.4591T>C (p.Tyr1531His) c.4714+36T>C (n.4714+36T>C) n.211T>C c.4624T>C (p.Tyr1542His) c.4696T>C (p.Tyr1566His) | |
| 3 | g.38554339A>T | CA352143702 | SCN5A | c.4750T>A (p.Tyr1584Asn) c.4753T>A (p.Tyr1585Asn) c.4699T>A (p.Tyr1567Asn) c.4591T>A (p.Tyr1531Asn) c.4714+36T>A (n.4714+36T>A) n.211T>A c.4624T>A (p.Tyr1542Asn) c.4696T>A (p.Tyr1566Asn) | |
| 3 | g.38554340G>A | CA433134538 | SCN5A | c.4749C>T (p.His1583=) c.4752C>T (p.His1584=) c.4698C>T (p.His1566=) c.4590C>T (p.His1530=) c.4714+35C>T (n.4714+35C>T) n.210C>T c.4623C>T (p.His1541=) c.4695C>T (p.His1565=) | |
| 3 | g.38554340G>C | CA352143703 | SCN5A | c.4749C>G (p.His1583Gln) c.4752C>G (p.His1584Gln) c.4698C>G (p.His1566Gln) c.4590C>G (p.His1530Gln) c.4714+35C>G (n.4714+35C>G) n.210C>G c.4623C>G (p.His1541Gln) c.4695C>G (p.His1565Gln) | gnomAD v4 |
| 3 | g.38554340G>T | CA352143704 | SCN5A | c.4749C>A (p.His1583Gln) c.4752C>A (p.His1584Gln) c.4698C>A (p.His1566Gln) c.4590C>A (p.His1530Gln) c.4714+35C>A (n.4714+35C>A) n.210C>A c.4623C>A (p.His1541Gln) c.4695C>A (p.His1565Gln) | |
| 3 | g.38554341T>A | CA352143707 | SCN5A | c.4748A>T (p.His1583Leu) c.4751A>T (p.His1584Leu) c.4697A>T (p.His1566Leu) c.4589A>T (p.His1530Leu) c.4714+34A>T (n.4714+34A>T) n.209A>T c.4622A>T (p.His1541Leu) c.4694A>T (p.His1565Leu) | |
| 3 | g.38554341T>C | CA352143706 | SCN5A | c.4748A>G (p.His1583Arg) c.4751A>G (p.His1584Arg) c.4697A>G (p.His1566Arg) c.4589A>G (p.His1530Arg) c.4714+34A>G (n.4714+34A>G) n.209A>G c.4622A>G (p.His1541Arg) c.4694A>G (p.His1565Arg) | |
| 3 | g.38554341T>G | CA352143705 | SCN5A | c.4748A>C (p.His1583Pro) c.4751A>C (p.His1584Pro) c.4697A>C (p.His1566Pro) c.4589A>C (p.His1530Pro) c.4714+34A>C (n.4714+34A>C) n.209A>C c.4622A>C (p.His1541Pro) c.4694A>C (p.His1565Pro) | gnomAD v4 |
| 3 | g.38554342G>A | CA16617942 | SCN5A | c.4747C>T (p.His1583Tyr) c.4750C>T (p.His1584Tyr) c.4696C>T (p.His1566Tyr) c.4588C>T (p.His1530Tyr) c.4714+33C>T (n.4714+33C>T) n.208C>T c.4621C>T (p.His1541Tyr) c.4693C>T (p.His1565Tyr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38554342G>C | CA352143708 | SCN5A | c.4747C>G (p.His1583Asp) c.4750C>G (p.His1584Asp) c.4696C>G (p.His1566Asp) c.4588C>G (p.His1530Asp) c.4714+33C>G (n.4714+33C>G) n.208C>G c.4621C>G (p.His1541Asp) c.4693C>G (p.His1565Asp) | |
| 3 | g.38554342G= | CA1358563158 | SCN5A | c.4747C= (p.His1583=) c.4750C= (p.His1584=) c.4696C= (p.His1566=) c.4588C= (p.His1530=) c.4714+33C= (n.4714+33C=) n.208C= c.4621C= (p.His1541=) c.4693C= (p.His1565=) | |
| 3 | g.38554342G>T | CA352143709 | SCN5A | c.4747C>A (p.His1583Asn) c.4750C>A (p.His1584Asn) c.4696C>A (p.His1566Asn) c.4588C>A (p.His1530Asn) c.4714+33C>A (n.4714+33C>A) n.208C>A c.4621C>A (p.His1541Asn) c.4693C>A (p.His1565Asn) | |
| 3 | g.38554343G>A | CA433134546 | SCN5A | c.4746C>T (p.Arg1582=) c.4749C>T (p.Arg1583=) c.4695C>T (p.Arg1565=) c.4587C>T (p.Arg1529=) c.4714+32C>T (n.4714+32C>T) n.207C>T c.4620C>T (p.Arg1540=) c.4692C>T (p.Arg1564=) | |
| 3 | g.38554343G>C | CA16604910 | SCN5A | c.4746C>G (p.Arg1582=) c.4749C>G (p.Arg1583=) c.4695C>G (p.Arg1565=) c.4587C>G (p.Arg1529=) c.4714+32C>G (n.4714+32C>G) n.207C>G c.4620C>G (p.Arg1540=) c.4692C>G (p.Arg1564=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38554343G= | CA1358563160 | SCN5A | c.4746C= (p.Arg1582=) c.4749C= (p.Arg1583=) c.4695C= (p.Arg1565=) c.4587C= (p.Arg1529=) c.4714+32C= (n.4714+32C=) n.207C= c.4620C= (p.Arg1540=) c.4692C= (p.Arg1564=) | |
| 3 | g.38554343G>T | CA433134544 | SCN5A | c.4746C>A (p.Arg1582=) c.4749C>A (p.Arg1583=) c.4695C>A (p.Arg1565=) c.4587C>A (p.Arg1529=) c.4714+32C>A (n.4714+32C>A) n.207C>A c.4620C>A (p.Arg1540=) c.4692C>A (p.Arg1564=) | |
| 3 | g.38554344C>A | CA352143710 | SCN5A | c.4745G>T (p.Arg1582Leu) c.4748G>T (p.Arg1583Leu) c.4694G>T (p.Arg1565Leu) c.4586G>T (p.Arg1529Leu) c.4714+31G>T (n.4714+31G>T) n.206G>T c.4619G>T (p.Arg1540Leu) c.4691G>T (p.Arg1564Leu) | |
| 3 | g.38554344C= | CA1358563163 | SCN5A | c.4745G= (p.Arg1582=) c.4748G= (p.Arg1583=) c.4694G= (p.Arg1565=) c.4586G= (p.Arg1529=) c.4714+31G= (n.4714+31G=) n.206G= c.4619G= (p.Arg1540=) c.4691G= (p.Arg1564=) | |
| 3 | g.38554344C>G | CA352143711 | SCN5A | c.4745G>C (p.Arg1582Pro) c.4748G>C (p.Arg1583Pro) c.4694G>C (p.Arg1565Pro) c.4586G>C (p.Arg1529Pro) c.4714+31G>C (n.4714+31G>C) n.206G>C c.4619G>C (p.Arg1540Pro) c.4691G>C (p.Arg1564Pro) | COSMIC COSMIC COSMIC |
| 3 | g.38554344C>T | CA018522 | SCN5A | c.4745G>A (p.Arg1582His) c.4748G>A (p.Arg1583His) c.4694G>A (p.Arg1565His) c.4586G>A (p.Arg1529His) c.4714+31G>A (n.4714+31G>A) n.206G>A c.4619G>A (p.Arg1540His) c.4691G>A (p.Arg1564His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38554345G>A | CA018516 | SCN5A | c.4744C>T (p.Arg1582Cys) c.4747C>T (p.Arg1583Cys) c.4693C>T (p.Arg1565Cys) c.4585C>T (p.Arg1529Cys) c.4714+30C>T (n.4714+30C>T) n.205C>T c.4618C>T (p.Arg1540Cys) c.4690C>T (p.Arg1564Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38554345G>C | CA352143712 | SCN5A | c.4744C>G (p.Arg1582Gly) c.4747C>G (p.Arg1583Gly) c.4693C>G (p.Arg1565Gly) c.4585C>G (p.Arg1529Gly) c.4714+30C>G (n.4714+30C>G) n.205C>G c.4618C>G (p.Arg1540Gly) c.4690C>G (p.Arg1564Gly) | |
| 3 | g.38554345G= | CA1358563169 | SCN5A | c.4744C= (p.Arg1582=) c.4747C= (p.Arg1583=) c.4693C= (p.Arg1565=) c.4585C= (p.Arg1529=) c.4714+30C= (n.4714+30C=) n.205C= c.4618C= (p.Arg1540=) c.4690C= (p.Arg1564=) | |
| 3 | g.38554345G>T | CA72942432 | SCN5A | c.4744C>A (p.Arg1582Ser) c.4747C>A (p.Arg1583Ser) c.4693C>A (p.Arg1565Ser) c.4585C>A (p.Arg1529Ser) c.4714+30C>A (n.4714+30C>A) n.205C>A c.4618C>A (p.Arg1540Ser) c.4690C>A (p.Arg1564Ser) | dbSNP |
| 3 | g.38554346C>A | CA433134550 | SCN5A | c.4743G>T (p.Leu1581=) c.4746G>T (p.Leu1582=) c.4692G>T (p.Leu1564=) c.4584G>T (p.Leu1528=) c.4714+29G>T (n.4714+29G>T) n.204G>T c.4617G>T (p.Leu1539=) c.4689G>T (p.Leu1563=) | |
| 3 | g.38554346C= | CA1358563173 | SCN5A | c.4743G= (p.Leu1581=) c.4746G= (p.Leu1582=) c.4692G= (p.Leu1564=) c.4584G= (p.Leu1528=) c.4714+29G= (n.4714+29G=) n.204G= c.4617G= (p.Leu1539=) c.4689G= (p.Leu1563=) | |
| 3 | g.38554346C>G | CA433134551 | SCN5A | c.4743G>C (p.Leu1581=) c.4746G>C (p.Leu1582=) c.4692G>C (p.Leu1564=) c.4584G>C (p.Leu1528=) c.4714+29G>C (n.4714+29G>C) n.204G>C c.4617G>C (p.Leu1539=) c.4689G>C (p.Leu1563=) | ClinVar dbSNP |
| 3 | g.38554346C>T | CA433134552 | SCN5A | c.4743G>A (p.Leu1581=) c.4746G>A (p.Leu1582=) c.4692G>A (p.Leu1564=) c.4584G>A (p.Leu1528=) c.4714+29G>A (n.4714+29G>A) n.204G>A c.4617G>A (p.Leu1539=) c.4689G>A (p.Leu1563=) | gnomAD v4 |
| 3 | g.38554347A= | CA1358563181 | SCN5A | c.4742T= (p.Leu1581=) c.4745T= (p.Leu1582=) c.4691T= (p.Leu1564=) c.4583T= (p.Leu1528=) c.4714+28T= (n.4714+28T=) n.203T= c.4616T= (p.Leu1539=) c.4688T= (p.Leu1563=) | |
| 3 | g.38554347A>C | CA352143713 | SCN5A | c.4742T>G (p.Leu1581Arg) c.4745T>G (p.Leu1582Arg) c.4691T>G (p.Leu1564Arg) c.4583T>G (p.Leu1528Arg) c.4714+28T>G (n.4714+28T>G) n.203T>G c.4616T>G (p.Leu1539Arg) c.4688T>G (p.Leu1563Arg) | |
| 3 | g.38554347A>G | CA018511 | SCN5A | c.4742T>C (p.Leu1581Pro) c.4745T>C (p.Leu1582Pro) c.4691T>C (p.Leu1564Pro) c.4583T>C (p.Leu1528Pro) c.4714+28T>C (n.4714+28T>C) n.203T>C c.4616T>C (p.Leu1539Pro) c.4688T>C (p.Leu1563Pro) | ClinVar dbSNP |
| 3 | g.38554347A>T | CA352143714 | SCN5A | c.4742T>A (p.Leu1581Gln) c.4745T>A (p.Leu1582Gln) c.4691T>A (p.Leu1564Gln) c.4583T>A (p.Leu1528Gln) c.4714+28T>A (n.4714+28T>A) n.203T>A c.4616T>A (p.Leu1539Gln) c.4688T>A (p.Leu1563Gln) | |
| 3 | g.38554348G>A | CA433134554 | SCN5A | c.4741C>T (p.Leu1581=) c.4744C>T (p.Leu1582=) c.4690C>T (p.Leu1564=) c.4582C>T (p.Leu1528=) c.4714+27C>T (n.4714+27C>T) n.202C>T c.4615C>T (p.Leu1539=) c.4687C>T (p.Leu1563=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38554348G>C | CA352143716 | SCN5A | c.4741C>G (p.Leu1581Val) c.4744C>G (p.Leu1582Val) c.4690C>G (p.Leu1564Val) c.4582C>G (p.Leu1528Val) c.4714+27C>G (n.4714+27C>G) n.202C>G c.4615C>G (p.Leu1539Val) c.4687C>G (p.Leu1563Val) | |
| 3 | g.38554348G= | CA1358563186 | SCN5A | c.4741C= (p.Leu1581=) c.4744C= (p.Leu1582=) c.4690C= (p.Leu1564=) c.4582C= (p.Leu1528=) c.4714+27C= (n.4714+27C=) n.202C= c.4615C= (p.Leu1539=) c.4687C= (p.Leu1563=) | |
| 3 | g.38554348G>T | CA352143715 | SCN5A | c.4741C>A (p.Leu1581Met) c.4744C>A (p.Leu1582Met) c.4690C>A (p.Leu1564Met) c.4582C>A (p.Leu1528Met) c.4714+27C>A (n.4714+27C>A) n.202C>A c.4615C>A (p.Leu1539Met) c.4687C>A (p.Leu1563Met) | |
| 3 | g.38554349G>A | CA433134555 | SCN5A | c.4740C>T (p.Ala1580=) c.4743C>T (p.Ala1581=) c.4689C>T (p.Ala1563=) c.4581C>T (p.Ala1527=) c.4714+26C>T (n.4714+26C>T) n.201C>T c.4614C>T (p.Ala1538=) c.4686C>T (p.Ala1562=) | |
| 3 | g.38554349G>C | CA433134556 | SCN5A | c.4740C>G (p.Ala1580=) c.4743C>G (p.Ala1581=) c.4689C>G (p.Ala1563=) c.4581C>G (p.Ala1527=) c.4714+26C>G (n.4714+26C>G) n.201C>G c.4614C>G (p.Ala1538=) c.4686C>G (p.Ala1562=) | |
| 3 | g.38554349G>T | CA433134558 | SCN5A | c.4740C>A (p.Ala1580=) c.4743C>A (p.Ala1581=) c.4689C>A (p.Ala1563=) c.4581C>A (p.Ala1527=) c.4714+26C>A (n.4714+26C>A) n.201C>A c.4614C>A (p.Ala1538=) c.4686C>A (p.Ala1562=) | |
| 3 | g.38554350G>A | CA352143717 | SCN5A | c.4739C>T (p.Ala1580Val) c.4742C>T (p.Ala1581Val) c.4688C>T (p.Ala1563Val) c.4580C>T (p.Ala1527Val) c.4714+25C>T (n.4714+25C>T) n.200C>T c.4613C>T (p.Ala1538Val) c.4685C>T (p.Ala1562Val) | |
| 3 | g.38554350G>C | CA352143719 | SCN5A | c.4739C>G (p.Ala1580Gly) c.4742C>G (p.Ala1581Gly) c.4688C>G (p.Ala1563Gly) c.4580C>G (p.Ala1527Gly) c.4714+25C>G (n.4714+25C>G) n.200C>G c.4613C>G (p.Ala1538Gly) c.4685C>G (p.Ala1562Gly) | |
| 3 | g.38554350G>T | CA352143718 | SCN5A | c.4739C>A (p.Ala1580Asp) c.4742C>A (p.Ala1581Asp) c.4688C>A (p.Ala1563Asp) c.4580C>A (p.Ala1527Asp) c.4714+25C>A (n.4714+25C>A) n.200C>A c.4613C>A (p.Ala1538Asp) c.4685C>A (p.Ala1562Asp) | COSMIC COSMIC COSMIC |
| 3 | g.38554351C>A | CA352143720 | SCN5A | c.4738G>T (p.Ala1580Ser) c.4741G>T (p.Ala1581Ser) c.4687G>T (p.Ala1563Ser) c.4579G>T (p.Ala1527Ser) c.4714+24G>T (n.4714+24G>T) n.199G>T c.4612G>T (p.Ala1538Ser) c.4684G>T (p.Ala1562Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38554351C= | CA1358563189 | SCN5A | c.4738G= (p.Ala1580=) c.4741G= (p.Ala1581=) c.4687G= (p.Ala1563=) c.4579G= (p.Ala1527=) c.4714+24G= (n.4714+24G=) n.199G= c.4612G= (p.Ala1538=) c.4684G= (p.Ala1562=) | |
| 3 | g.38554351C>G | CA352143721 | SCN5A | c.4738G>C (p.Ala1580Pro) c.4741G>C (p.Ala1581Pro) c.4687G>C (p.Ala1563Pro) c.4579G>C (p.Ala1527Pro) c.4714+24G>C (n.4714+24G>C) n.199G>C c.4612G>C (p.Ala1538Pro) c.4684G>C (p.Ala1562Pro) | |
| 3 | g.38554351C>T | CA72942439 | SCN5A | c.4738G>A (p.Ala1580Thr) c.4741G>A (p.Ala1581Thr) c.4687G>A (p.Ala1563Thr) c.4579G>A (p.Ala1527Thr) c.4714+24G>A (n.4714+24G>A) n.199G>A c.4612G>A (p.Ala1538Thr) c.4684G>A (p.Ala1562Thr) | dbSNP gnomAD v4 |
| 3 | g.38554352A>C | CA433134562 | SCN5A | c.4737T>G (p.Ala1579=) c.4740T>G (p.Ala1580=) c.4686T>G (p.Ala1562=) c.4578T>G (p.Ala1526=) c.4714+23T>G (n.4714+23T>G) n.198T>G c.4611T>G (p.Ala1537=) c.4683T>G (p.Ala1561=) | |
| 3 | g.38554352A>G | CA433134563 | SCN5A | c.4737T>C (p.Ala1579=) c.4740T>C (p.Ala1580=) c.4686T>C (p.Ala1562=) c.4578T>C (p.Ala1526=) c.4714+23T>C (n.4714+23T>C) n.198T>C c.4611T>C (p.Ala1537=) c.4683T>C (p.Ala1561=) | |
| 3 | g.38554352A>T | CA433134564 | SCN5A | c.4737T>A (p.Ala1579=) c.4740T>A (p.Ala1580=) c.4686T>A (p.Ala1562=) c.4578T>A (p.Ala1526=) c.4714+23T>A (n.4714+23T>A) n.198T>A c.4611T>A (p.Ala1537=) c.4683T>A (p.Ala1561=) | |
| 3 | g.38554353G>A | CA352143722 | SCN5A | c.4736C>T (p.Ala1579Val) c.4739C>T (p.Ala1580Val) c.4685C>T (p.Ala1562Val) c.4577C>T (p.Ala1526Val) c.4714+22C>T (n.4714+22C>T) n.197C>T c.4610C>T (p.Ala1537Val) c.4682C>T (p.Ala1561Val) | |
| 3 | g.38554353G>C | CA352143724 | SCN5A | c.4736C>G (p.Ala1579Gly) c.4739C>G (p.Ala1580Gly) c.4685C>G (p.Ala1562Gly) c.4577C>G (p.Ala1526Gly) c.4714+22C>G (n.4714+22C>G) n.197C>G c.4610C>G (p.Ala1537Gly) c.4682C>G (p.Ala1561Gly) | |
| 3 | g.38554353G>T | CA352143723 | SCN5A | c.4736C>A (p.Ala1579Asp) c.4739C>A (p.Ala1580Asp) c.4685C>A (p.Ala1562Asp) c.4577C>A (p.Ala1526Asp) c.4714+22C>A (n.4714+22C>A) n.197C>A c.4610C>A (p.Ala1537Asp) c.4682C>A (p.Ala1561Asp) | |
| 3 | g.38554354C>A | CA352143725 | SCN5A | c.4735G>T (p.Ala1579Ser) c.4738G>T (p.Ala1580Ser) c.4684G>T (p.Ala1562Ser) c.4576G>T (p.Ala1526Ser) c.4714+21G>T (n.4714+21G>T) n.196G>T c.4609G>T (p.Ala1537Ser) c.4681G>T (p.Ala1561Ser) | ClinVar dbSNP |
| 3 | g.38554354C>G | CA352143727 | SCN5A | c.4735G>C (p.Ala1579Pro) c.4738G>C (p.Ala1580Pro) c.4684G>C (p.Ala1562Pro) c.4576G>C (p.Ala1526Pro) c.4714+21G>C (n.4714+21G>C) n.196G>C c.4609G>C (p.Ala1537Pro) c.4681G>C (p.Ala1561Pro) | |
| 3 | g.38554354C>T | CA352143726 | SCN5A | c.4735G>A (p.Ala1579Thr) c.4738G>A (p.Ala1580Thr) c.4684G>A (p.Ala1562Thr) c.4576G>A (p.Ala1526Thr) c.4714+21G>A (n.4714+21G>A) n.196G>A c.4609G>A (p.Ala1537Thr) c.4681G>A (p.Ala1561Thr) | |
| 3 | g.38554355C>A | CA433134568 | SCN5A | c.4734G>T (p.Leu1578=) c.4737G>T (p.Leu1579=) c.4683G>T (p.Leu1561=) c.4575G>T (p.Leu1525=) c.4714+20G>T (n.4714+20G>T) n.195G>T c.4608G>T (p.Leu1536=) c.4680G>T (p.Leu1560=) | COSMIC COSMIC COSMIC |
| 3 | g.38554355C>G | CA433134569 | SCN5A | c.4734G>C (p.Leu1578=) c.4737G>C (p.Leu1579=) c.4683G>C (p.Leu1561=) c.4575G>C (p.Leu1525=) c.4714+20G>C (n.4714+20G>C) n.195G>C c.4608G>C (p.Leu1536=) c.4680G>C (p.Leu1560=) | |
| 3 | g.38554355C>T | CA433134570 | SCN5A | c.4734G>A (p.Leu1578=) c.4737G>A (p.Leu1579=) c.4683G>A (p.Leu1561=) c.4575G>A (p.Leu1525=) c.4714+20G>A (n.4714+20G>A) n.195G>A c.4608G>A (p.Leu1536=) c.4680G>A (p.Leu1560=) | |
| 3 | g.38554356A>C | CA352143728 | SCN5A | c.4733T>G (p.Leu1578Arg) c.4736T>G (p.Leu1579Arg) c.4682T>G (p.Leu1561Arg) c.4574T>G (p.Leu1525Arg) c.4714+19T>G (n.4714+19T>G) n.194T>G c.4607T>G (p.Leu1536Arg) c.4679T>G (p.Leu1560Arg) | |
| 3 | g.38554356A>G | CA352143730 | SCN5A | c.4733T>C (p.Leu1578Pro) c.4736T>C (p.Leu1579Pro) c.4682T>C (p.Leu1561Pro) c.4574T>C (p.Leu1525Pro) c.4714+19T>C (n.4714+19T>C) n.194T>C c.4607T>C (p.Leu1536Pro) c.4679T>C (p.Leu1560Pro) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38554356A>T | CA352143729 | SCN5A | c.4733T>A (p.Leu1578Gln) c.4736T>A (p.Leu1579Gln) c.4682T>A (p.Leu1561Gln) c.4574T>A (p.Leu1525Gln) c.4714+19T>A (n.4714+19T>A) n.194T>A c.4607T>A (p.Leu1536Gln) c.4679T>A (p.Leu1560Gln) | |
| 3 | g.38554357G>A | CA433134571 | SCN5A | c.4732C>T (p.Leu1578=) c.4735C>T (p.Leu1579=) c.4681C>T (p.Leu1561=) c.4573C>T (p.Leu1525=) c.4714+18C>T (n.4714+18C>T) n.193C>T c.4606C>T (p.Leu1536=) c.4678C>T (p.Leu1560=) | |
| 3 | g.38554357G>C | CA352143731 | SCN5A | c.4732C>G (p.Leu1578Val) c.4735C>G (p.Leu1579Val) c.4681C>G (p.Leu1561Val) c.4573C>G (p.Leu1525Val) c.4714+18C>G (n.4714+18C>G) n.193C>G c.4606C>G (p.Leu1536Val) c.4678C>G (p.Leu1560Val) | |
| 3 | g.38554357G>T | CA352143732 | SCN5A | c.4732C>A (p.Leu1578Met) c.4735C>A (p.Leu1579Met) c.4681C>A (p.Leu1561Met) c.4573C>A (p.Leu1525Met) c.4714+18C>A (n.4714+18C>A) n.193C>A c.4606C>A (p.Leu1536Met) c.4678C>A (p.Leu1560Met) | |
| 3 | g.38554358C>A | CA352143733 | SCN5A | c.4731G>T (p.Lys1577Asn) c.4734G>T (p.Lys1578Asn) c.4680G>T (p.Lys1560Asn) c.4572G>T (p.Lys1524Asn) c.4714+17G>T (n.4714+17G>T) n.192G>T c.4605G>T (p.Lys1535Asn) c.4677G>T (p.Lys1559Asn) | |
| 3 | g.38554358C>G | CA352143734 | SCN5A | c.4731G>C (p.Lys1577Asn) c.4734G>C (p.Lys1578Asn) c.4680G>C (p.Lys1560Asn) c.4572G>C (p.Lys1524Asn) c.4714+17G>C (n.4714+17G>C) n.192G>C c.4605G>C (p.Lys1535Asn) c.4677G>C (p.Lys1559Asn) | gnomAD v4 |
| 3 | g.38554358C>T | CA433134576 | SCN5A | c.4731G>A (p.Lys1577=) c.4734G>A (p.Lys1578=) c.4680G>A (p.Lys1560=) c.4572G>A (p.Lys1524=) c.4714+17G>A (n.4714+17G>A) n.192G>A c.4605G>A (p.Lys1535=) c.4677G>A (p.Lys1559=) | gnomAD v4 |
| 3 | g.38554359T>A | CA352143735 | SCN5A | c.4730A>T (p.Lys1577Met) c.4733A>T (p.Lys1578Met) c.4679A>T (p.Lys1560Met) c.4571A>T (p.Lys1524Met) c.4714+16A>T (n.4714+16A>T) n.191A>T c.4604A>T (p.Lys1535Met) c.4676A>T (p.Lys1559Met) | |
| 3 | g.38554359T>C | CA352143736 | SCN5A | c.4730A>G (p.Lys1577Arg) c.4733A>G (p.Lys1578Arg) c.4679A>G (p.Lys1560Arg) c.4571A>G (p.Lys1524Arg) c.4714+16A>G (n.4714+16A>G) n.191A>G c.4604A>G (p.Lys1535Arg) c.4676A>G (p.Lys1559Arg) | |
| 3 | g.38554359T>G | CA352143737 | SCN5A | c.4730A>C (p.Lys1577Thr) c.4733A>C (p.Lys1578Thr) c.4679A>C (p.Lys1560Thr) c.4571A>C (p.Lys1524Thr) c.4714+16A>C (n.4714+16A>C) n.191A>C c.4604A>C (p.Lys1535Thr) c.4676A>C (p.Lys1559Thr) | |
| 3 | g.38554359_38554360dup | CA2586965690 | SCN5A | c.4729_4730dup (p.Leu1578SerfsTer?) c.4732_4733dup (p.Leu1579SerfsTer?) c.4678_4679dup (p.Leu1561SerfsTer?) c.4570_4571dup (p.Leu1525SerfsTer?) c.4714+15_4714+16dup (n.4714+15_4714+16dup) n.190_191dup c.4603_4604dup (p.Leu1536SerfsTer?) c.4675_4676dup (p.Leu1560SerfsTer?) | |
| 3 | g.38554360T>A | CA352143738 | SCN5A | c.4729A>T (p.Lys1577Ter) c.4732A>T (p.Lys1578Ter) c.4678A>T (p.Lys1560Ter) c.4570A>T (p.Lys1524Ter) c.4714+15A>T (n.4714+15A>T) n.190A>T c.4603A>T (p.Lys1535Ter) c.4675A>T (p.Lys1559Ter) | dbSNP |
| 3 | g.38554360T>C | CA352143739 | SCN5A | c.4729A>G (p.Lys1577Glu) c.4732A>G (p.Lys1578Glu) c.4678A>G (p.Lys1560Glu) c.4570A>G (p.Lys1524Glu) c.4714+15A>G (n.4714+15A>G) n.190A>G c.4603A>G (p.Lys1535Glu) c.4675A>G (p.Lys1559Glu) | |
| 3 | g.38554360T>G | CA352143740 | SCN5A | c.4729A>C (p.Lys1577Gln) c.4732A>C (p.Lys1578Gln) c.4678A>C (p.Lys1560Gln) c.4570A>C (p.Lys1524Gln) c.4714+15A>C (n.4714+15A>C) n.190A>C c.4603A>C (p.Lys1535Gln) c.4675A>C (p.Lys1559Gln) | |
| 3 | g.38554360T= | CA1358563194 | SCN5A | c.4729A= (p.Lys1577=) c.4732A= (p.Lys1578=) c.4678A= (p.Lys1560=) c.4570A= (p.Lys1524=) c.4714+15A= (n.4714+15A=) n.190A= c.4603A= (p.Lys1535=) c.4675A= (p.Lys1559=) | |
| 3 | g.38554361G>A | CA433134578 | SCN5A | c.4728C>T (p.Val1576=) c.4731C>T (p.Val1577=) c.4677C>T (p.Val1559=) c.4569C>T (p.Val1523=) c.4714+14C>T (n.4714+14C>T) n.189C>T c.4602C>T (p.Val1534=) c.4674C>T (p.Val1558=) | |
| 3 | g.38554361G>C | CA433134579 | SCN5A | c.4728C>G (p.Val1576=) c.4731C>G (p.Val1577=) c.4677C>G (p.Val1559=) c.4569C>G (p.Val1523=) c.4714+14C>G (n.4714+14C>G) n.189C>G c.4602C>G (p.Val1534=) c.4674C>G (p.Val1558=) | |
| 3 | g.38554361G>T | CA433134580 | SCN5A | c.4728C>A (p.Val1576=) c.4731C>A (p.Val1577=) c.4677C>A (p.Val1559=) c.4569C>A (p.Val1523=) c.4714+14C>A (n.4714+14C>A) n.189C>A c.4602C>A (p.Val1534=) c.4674C>A (p.Val1558=) | |
| 3 | g.38554362A>C | CA352143743 | SCN5A | c.4727T>G (p.Val1576Gly) c.4730T>G (p.Val1577Gly) c.4676T>G (p.Val1559Gly) c.4568T>G (p.Val1523Gly) c.4714+13T>G (n.4714+13T>G) n.188T>G c.4601T>G (p.Val1534Gly) c.4673T>G (p.Val1558Gly) | |
| 3 | g.38554362A>G | CA352143742 | SCN5A | c.4727T>C (p.Val1576Ala) c.4730T>C (p.Val1577Ala) c.4676T>C (p.Val1559Ala) c.4568T>C (p.Val1523Ala) c.4714+13T>C (n.4714+13T>C) n.188T>C c.4601T>C (p.Val1534Ala) c.4673T>C (p.Val1558Ala) | |
| 3 | g.38554362A>T | CA352143741 | SCN5A | c.4727T>A (p.Val1576Asp) c.4730T>A (p.Val1577Asp) c.4676T>A (p.Val1559Asp) c.4568T>A (p.Val1523Asp) c.4714+13T>A (n.4714+13T>A) n.188T>A c.4601T>A (p.Val1534Asp) c.4673T>A (p.Val1558Asp) | |
| 3 | g.38554363C>A | CA352143744 | SCN5A | c.4726G>T (p.Val1576Phe) c.4729G>T (p.Val1577Phe) c.4675G>T (p.Val1559Phe) c.4567G>T (p.Val1523Phe) c.4714+12G>T (n.4714+12G>T) n.187G>T c.4600G>T (p.Val1534Phe) c.4672G>T (p.Val1558Phe) | |
| 3 | g.38554363C= | CA1358563196 | SCN5A | c.4726G= (p.Val1576=) c.4729G= (p.Val1577=) c.4675G= (p.Val1559=) c.4567G= (p.Val1523=) c.4714+12G= (n.4714+12G=) n.187G= c.4600G= (p.Val1534=) c.4672G= (p.Val1558=) | |
| 3 | g.38554363C>G | CA352143745 | SCN5A | c.4726G>C (p.Val1576Leu) c.4729G>C (p.Val1577Leu) c.4675G>C (p.Val1559Leu) c.4567G>C (p.Val1523Leu) c.4714+12G>C (n.4714+12G>C) n.187G>C c.4600G>C (p.Val1534Leu) c.4672G>C (p.Val1558Leu) | gnomAD v4 |
| 3 | g.38554363C>T | CA352143746 | SCN5A | c.4726G>A (p.Val1576Ile) c.4729G>A (p.Val1577Ile) c.4675G>A (p.Val1559Ile) c.4567G>A (p.Val1523Ile) c.4714+12G>A (n.4714+12G>A) n.187G>A c.4600G>A (p.Val1534Ile) c.4672G>A (p.Val1558Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38554364A= | CA1358563198 | SCN5A | c.4725T= (p.Ile1575=) c.4728T= (p.Ile1576=) c.4674T= (p.Ile1558=) c.4566T= (p.Ile1522=) c.4714+11T= (n.4714+11T=) n.186T= c.4599T= (p.Ile1533=) c.4671T= (p.Ile1557=) | |
| 3 | g.38554364A>C | CA352143747 | SCN5A | c.4725T>G (p.Ile1575Met) c.4728T>G (p.Ile1576Met) c.4674T>G (p.Ile1558Met) c.4566T>G (p.Ile1522Met) c.4714+11T>G (n.4714+11T>G) n.186T>G c.4599T>G (p.Ile1533Met) c.4671T>G (p.Ile1557Met) | |
| 3 | g.38554364A>G | CA063571 | SCN5A | c.4725T>C (p.Ile1575=) c.4728T>C (p.Ile1576=) c.4674T>C (p.Ile1558=) c.4566T>C (p.Ile1522=) c.4714+11T>C (n.4714+11T>C) n.186T>C c.4599T>C (p.Ile1533=) c.4671T>C (p.Ile1557=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38554364A>T | CA433134586 | SCN5A | c.4725T>A (p.Ile1575=) c.4728T>A (p.Ile1576=) c.4674T>A (p.Ile1558=) c.4566T>A (p.Ile1522=) c.4714+11T>A (n.4714+11T>A) n.186T>A c.4599T>A (p.Ile1533=) c.4671T>A (p.Ile1557=) | |
| 3 | g.38554365A>C | CA352143748 | SCN5A | c.4724T>G (p.Ile1575Ser) c.4727T>G (p.Ile1576Ser) c.4673T>G (p.Ile1558Ser) c.4565T>G (p.Ile1522Ser) c.4714+10T>G (n.4714+10T>G) n.185T>G c.4598T>G (p.Ile1533Ser) c.4670T>G (p.Ile1557Ser) | |
| 3 | g.38554365A>G | CA352143749 | SCN5A | c.4724T>C (p.Ile1575Thr) c.4727T>C (p.Ile1576Thr) c.4673T>C (p.Ile1558Thr) c.4565T>C (p.Ile1522Thr) c.4714+10T>C (n.4714+10T>C) n.185T>C c.4598T>C (p.Ile1533Thr) c.4670T>C (p.Ile1557Thr) | gnomAD v4 |
| 3 | g.38554365A>T | CA352143750 | SCN5A | c.4724T>A (p.Ile1575Asn) c.4727T>A (p.Ile1576Asn) c.4673T>A (p.Ile1558Asn) c.4565T>A (p.Ile1522Asn) c.4714+10T>A (n.4714+10T>A) n.185T>A c.4598T>A (p.Ile1533Asn) c.4670T>A (p.Ile1557Asn) | |
| 3 | g.38554366T>A | CA352143751 | SCN5A | c.4723A>T (p.Ile1575Phe) c.4726A>T (p.Ile1576Phe) c.4672A>T (p.Ile1558Phe) c.4564A>T (p.Ile1522Phe) c.4714+9A>T (n.4714+9A>T) n.184A>T c.4597A>T (p.Ile1533Phe) c.4669A>T (p.Ile1557Phe) | |
| 3 | g.38554366T>C | CA352143752 | SCN5A | c.4723A>G (p.Ile1575Val) c.4726A>G (p.Ile1576Val) c.4672A>G (p.Ile1558Val) c.4564A>G (p.Ile1522Val) c.4714+9A>G (n.4714+9A>G) n.184A>G c.4597A>G (p.Ile1533Val) c.4669A>G (p.Ile1557Val) | |
| 3 | g.38554366T>G | CA352143753 | SCN5A | c.4723A>C (p.Ile1575Leu) c.4726A>C (p.Ile1576Leu) c.4672A>C (p.Ile1558Leu) c.4564A>C (p.Ile1522Leu) c.4714+9A>C (n.4714+9A>C) n.184A>C c.4597A>C (p.Ile1533Leu) c.4669A>C (p.Ile1557Leu) | |
| 3 | g.38554367A= | CA1358563200 | SCN5A | c.4722T= (p.Cys1574=) c.4725T= (p.Cys1575=) c.4671T= (p.Cys1557=) c.4563T= (p.Cys1521=) c.4714+8T= (n.4714+8T=) n.183T= c.4596T= (p.Cys1532=) c.4668T= (p.Cys1556=) | |
| 3 | g.38554367A>C | CA352143755 | SCN5A | c.4722T>G (p.Cys1574Trp) c.4725T>G (p.Cys1575Trp) c.4671T>G (p.Cys1557Trp) c.4563T>G (p.Cys1521Trp) c.4714+8T>G (n.4714+8T>G) n.183T>G c.4596T>G (p.Cys1532Trp) c.4668T>G (p.Cys1556Trp) | |
| 3 | g.38554367A>G | CA433134588 | SCN5A | c.4722T>C (p.Cys1574=) c.4725T>C (p.Cys1575=) c.4671T>C (p.Cys1557=) c.4563T>C (p.Cys1521=) c.4714+8T>C (n.4714+8T>C) n.183T>C c.4596T>C (p.Cys1532=) c.4668T>C (p.Cys1556=) | |
| 3 | g.38554367A>T | CA352143754 | SCN5A | c.4722T>A (p.Cys1574Ter) c.4725T>A (p.Cys1575Ter) c.4671T>A (p.Cys1557Ter) c.4563T>A (p.Cys1521Ter) c.4714+8T>A (n.4714+8T>A) n.183T>A c.4596T>A (p.Cys1532Ter) c.4668T>A (p.Cys1556Ter) | dbSNP |
| 3 | g.38554368C>A | CA352143756 | SCN5A | c.4721G>T (p.Cys1574Phe) c.4724G>T (p.Cys1575Phe) c.4670G>T (p.Cys1557Phe) c.4562G>T (p.Cys1521Phe) c.4714+7G>T (n.4714+7G>T) n.182G>T c.4595G>T (p.Cys1532Phe) c.4667G>T (p.Cys1556Phe) | |
| 3 | g.38554368C= | CA1358563202 | SCN5A | c.4721G= (p.Cys1574=) c.4724G= (p.Cys1575=) c.4670G= (p.Cys1557=) c.4562G= (p.Cys1521=) c.4714+7G= (n.4714+7G=) n.182G= c.4595G= (p.Cys1532=) c.4667G= (p.Cys1556=) | |
| 3 | g.38554368C>G | CA352143757 | SCN5A | c.4721G>C (p.Cys1574Ser) c.4724G>C (p.Cys1575Ser) c.4670G>C (p.Cys1557Ser) c.4562G>C (p.Cys1521Ser) c.4714+7G>C (n.4714+7G>C) n.182G>C c.4595G>C (p.Cys1532Ser) c.4667G>C (p.Cys1556Ser) | |
| 3 | g.38554368C>T | CA352143758 | SCN5A | c.4721G>A (p.Cys1574Tyr) c.4724G>A (p.Cys1575Tyr) c.4670G>A (p.Cys1557Tyr) c.4562G>A (p.Cys1521Tyr) c.4714+7G>A (n.4714+7G>A) n.182G>A c.4595G>A (p.Cys1532Tyr) c.4667G>A (p.Cys1556Tyr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38554369A= | CA1358563204 | SCN5A | c.4720T= (p.Cys1574=) c.4723T= (p.Cys1575=) c.4669T= (p.Cys1557=) c.4561T= (p.Cys1521=) c.4714+6T= (n.4714+6T=) n.181T= c.4594T= (p.Cys1532=) c.4666T= (p.Cys1556=) | |
| 3 | g.38554369A>C | CA352143759 | SCN5A | c.4720T>G (p.Cys1574Gly) c.4723T>G (p.Cys1575Gly) c.4669T>G (p.Cys1557Gly) c.4561T>G (p.Cys1521Gly) c.4714+6T>G (n.4714+6T>G) n.181T>G c.4594T>G (p.Cys1532Gly) c.4666T>G (p.Cys1556Gly) | |
| 3 | g.38554369A>G | CA352143760 | SCN5A | c.4720T>C (p.Cys1574Arg) c.4723T>C (p.Cys1575Arg) c.4669T>C (p.Cys1557Arg) c.4561T>C (p.Cys1521Arg) c.4714+6T>C (n.4714+6T>C) n.181T>C c.4594T>C (p.Cys1532Arg) c.4666T>C (p.Cys1556Arg) | |
| 3 | g.38554369A>T | CA352143761 | SCN5A | c.4720T>A (p.Cys1574Ser) c.4723T>A (p.Cys1575Ser) c.4669T>A (p.Cys1557Ser) c.4561T>A (p.Cys1521Ser) c.4714+6T>A (n.4714+6T>A) n.181T>A c.4594T>A (p.Cys1532Ser) c.4666T>A (p.Cys1556Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38554370C>A | CA352143762 | SCN5A | c.4719G>T (p.Glu1573Asp) c.4722G>T (p.Glu1574Asp) c.4668G>T (p.Glu1556Asp) c.4560G>T (p.Glu1520Asp) c.4714+5G>T (n.4714+5G>T) n.180G>T c.4593G>T (p.Glu1531Asp) c.4665G>T (p.Glu1555Asp) | |
| 3 | g.38554370C= | CA1358563207 | SCN5A | c.4719G= (p.Glu1573=) c.4722G= (p.Glu1574=) c.4668G= (p.Glu1556=) c.4560G= (p.Glu1520=) c.4714+5G= (n.4714+5G=) n.180G= c.4593G= (p.Glu1531=) c.4665G= (p.Glu1555=) | |
| 3 | g.38554370C>G | CA352143763 | SCN5A | c.4719G>C (p.Glu1573Asp) c.4722G>C (p.Glu1574Asp) c.4668G>C (p.Glu1556Asp) c.4560G>C (p.Glu1520Asp) c.4714+5G>C (n.4714+5G>C) n.180G>C c.4593G>C (p.Glu1531Asp) c.4665G>C (p.Glu1555Asp) | gnomAD v4 |
| 3 | g.38554370C>T | CA16604465 | SCN5A | c.4719G>A (p.Glu1573=) c.4722G>A (p.Glu1574=) c.4668G>A (p.Glu1556=) c.4560G>A (p.Glu1520=) c.4714+5G>A (n.4714+5G>A) n.180G>A c.4593G>A (p.Glu1531=) c.4665G>A (p.Glu1555=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38554371T>A | CA352143764 | SCN5A | c.4718A>T (p.Glu1573Val) c.4721A>T (p.Glu1574Val) c.4667A>T (p.Glu1556Val) c.4559A>T (p.Glu1520Val) c.4714+4A>T (n.4714+4A>T) n.179A>T c.4592A>T (p.Glu1531Val) c.4664A>T (p.Glu1555Val) | |
| 3 | g.38554371T>C | CA352143765 | SCN5A | c.4718A>G (p.Glu1573Gly) c.4721A>G (p.Glu1574Gly) c.4667A>G (p.Glu1556Gly) c.4559A>G (p.Glu1520Gly) c.4714+4A>G (n.4714+4A>G) n.179A>G c.4592A>G (p.Glu1531Gly) c.4664A>G (p.Glu1555Gly) | COSMIC COSMIC COSMIC |
| 3 | g.38554371T>G | CA352143766 | SCN5A | c.4718A>C (p.Glu1573Ala) c.4721A>C (p.Glu1574Ala) c.4667A>C (p.Glu1556Ala) c.4559A>C (p.Glu1520Ala) c.4714+4A>C (n.4714+4A>C) n.179A>C c.4592A>C (p.Glu1531Ala) c.4664A>C (p.Glu1555Ala) | |
| 3 | g.38554372C>A | CA352143768 | SCN5A | c.4717G>T (p.Glu1573Ter) c.4720G>T (p.Glu1574Ter) c.4666G>T (p.Glu1556Ter) c.4558G>T (p.Glu1520Ter) c.4714+3G>T (n.4714+3G>T) n.178G>T c.4591G>T (p.Glu1531Ter) c.4663G>T (p.Glu1555Ter) | ClinVar dbSNP |
| 3 | g.38554372C= | CA1358563212 | SCN5A | c.4717G= (p.Glu1573=) c.4720G= (p.Glu1574=) c.4666G= (p.Glu1556=) c.4558G= (p.Glu1520=) c.4714+3G= (n.4714+3G=) n.178G= c.4591G= (p.Glu1531=) c.4663G= (p.Glu1555=) | |
| 3 | g.38554372C>G | CA352143767 | SCN5A | c.4717G>C (p.Glu1573Gln) c.4720G>C (p.Glu1574Gln) c.4666G>C (p.Glu1556Gln) c.4558G>C (p.Glu1520Gln) c.4714+3G>C (n.4714+3G>C) n.178G>C c.4591G>C (p.Glu1531Gln) c.4663G>C (p.Glu1555Gln) | COSMIC COSMIC |
| 3 | g.38554372C>T | CA018503 | SCN5A | c.4717G>A (p.Glu1573Lys) c.4720G>A (p.Glu1574Lys) c.4666G>A (p.Glu1556Lys) c.4558G>A (p.Glu1520Lys) c.4714+3G>A (n.4714+3G>A) n.178G>A c.4591G>A (p.Glu1531Lys) c.4663G>A (p.Glu1555Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38554373G>A | CA063563 | SCN5A | c.4716C>T (p.Gly1572=) c.4719C>T (p.Gly1573=) c.4665C>T (p.Gly1555=) c.4557C>T (p.Gly1519=) c.4714+2C>T (n.4714+2C>T) n.177C>T c.4590C>T (p.Gly1530=) c.4662C>T (p.Gly1554=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38554373G>C | CA352143769 | SCN5A | c.4716C>G (p.Gly1572=) c.4719C>G (p.Gly1573=) c.4665C>G (p.Gly1555=) c.4557C>G (p.Gly1519=) c.4714+2C>G (n.4714+2C>G) n.177C>G c.4590C>G (p.Gly1530=) c.4662C>G (p.Gly1554=) | |
| 3 | g.38554373G= | CA1358563217 | SCN5A | c.4716C= (p.Gly1572=) c.4719C= (p.Gly1573=) c.4665C= (p.Gly1555=) c.4557C= (p.Gly1519=) c.4714+2C= (n.4714+2C=) n.177C= c.4590C= (p.Gly1530=) c.4662C= (p.Gly1554=) | |
| 3 | g.38554373G>T | CA352143770 | SCN5A | c.4716C>A (p.Gly1572=) c.4719C>A (p.Gly1573=) c.4665C>A (p.Gly1555=) c.4557C>A (p.Gly1519=) c.4714+2C>A (n.4714+2C>A) n.177C>A c.4590C>A (p.Gly1530=) c.4662C>A (p.Gly1554=) | |
| 3 | g.38554374C>A | CA352143771 | SCN5A | c.4715G>T (p.Gly1572Val) c.4718G>T (p.Gly1573Val) c.4664G>T (p.Gly1555Val) c.4556G>T (p.Gly1519Val) c.4714+1G>T (n.4714+1G>T) n.176G>T c.4589G>T (p.Gly1530Val) c.4661G>T (p.Gly1554Val) | |
| 3 | g.38554374C>G | CA352143772 | SCN5A | c.4715G>C (p.Gly1572Ala) c.4718G>C (p.Gly1573Ala) c.4664G>C (p.Gly1555Ala) c.4556G>C (p.Gly1519Ala) c.4714+1G>C (n.4714+1G>C) n.176G>C c.4589G>C (p.Gly1530Ala) c.4661G>C (p.Gly1554Ala) | |
| 3 | g.38554374C>T | CA352143773 | SCN5A | c.4715G>A (p.Gly1572Asp) c.4718G>A (p.Gly1573Asp) c.4664G>A (p.Gly1555Asp) c.4556G>A (p.Gly1519Asp) c.4714+1G>A (n.4714+1G>A) n.176G>A c.4589G>A (p.Gly1530Asp) c.4661G>A (p.Gly1554Asp) | |
| 3 | g.38554375C>A | CA352143774 | SCN5A | c.4714G>T (p.Gly1572Cys) c.4717G>T (p.Gly1573Cys) c.4663G>T (p.Gly1555Cys) c.4555G>T (p.Gly1519Cys) n.175G>T c.4588G>T (p.Gly1530Cys) c.4660G>T (p.Gly1554Cys) | |
| 3 | g.38554375C>G | CA352143775 | SCN5A | c.4714G>C (p.Gly1572Arg) c.4717G>C (p.Gly1573Arg) c.4663G>C (p.Gly1555Arg) c.4555G>C (p.Gly1519Arg) n.175G>C c.4588G>C (p.Gly1530Arg) c.4660G>C (p.Gly1554Arg) | |
| 3 | g.38554375C>T | CA352143776 | SCN5A | c.4714G>A (p.Gly1572Ser) c.4717G>A (p.Gly1573Ser) c.4663G>A (p.Gly1555Ser) c.4555G>A (p.Gly1519Ser) n.175G>A c.4588G>A (p.Gly1530Ser) c.4660G>A (p.Gly1554Ser) | |
| 3 | g.38554376T>A | CA433134600 | SCN5A | c.4713A>T (p.Thr1571=) c.4716A>T (p.Thr1572=) c.4662A>T (p.Thr1554=) c.4554A>T (p.Thr1518=) n.174A>T c.4587A>T (p.Thr1529=) c.4659A>T (p.Thr1553=) | |
| 3 | g.38554376T>C | CA433134603 | SCN5A | c.4713A>G (p.Thr1571=) c.4716A>G (p.Thr1572=) c.4662A>G (p.Thr1554=) c.4554A>G (p.Thr1518=) n.174A>G c.4587A>G (p.Thr1529=) c.4659A>G (p.Thr1553=) | ClinVar dbSNP |
| 3 | g.38554376T>G | CA433134602 | SCN5A | c.4713A>C (p.Thr1571=) c.4716A>C (p.Thr1572=) c.4662A>C (p.Thr1554=) c.4554A>C (p.Thr1518=) n.174A>C c.4587A>C (p.Thr1529=) c.4659A>C (p.Thr1553=) | |
| 3 | g.38554377G>A | CA352143777 | SCN5A | c.4712C>T (p.Thr1571Ile) c.4715C>T (p.Thr1572Ile) c.4661C>T (p.Thr1554Ile) c.4553C>T (p.Thr1518Ile) n.173C>T c.4586C>T (p.Thr1529Ile) c.4658C>T (p.Thr1553Ile) | gnomAD v4 |
| 3 | g.38554377G>C | CA352143778 | SCN5A | c.4712C>G (p.Thr1571Arg) c.4715C>G (p.Thr1572Arg) c.4661C>G (p.Thr1554Arg) c.4553C>G (p.Thr1518Arg) n.173C>G c.4586C>G (p.Thr1529Arg) c.4658C>G (p.Thr1553Arg) | ClinVar dbSNP |
| 3 | g.38554377G>T | CA352143779 | SCN5A | c.4712C>A (p.Thr1571Lys) c.4715C>A (p.Thr1572Lys) c.4661C>A (p.Thr1554Lys) c.4553C>A (p.Thr1518Lys) n.173C>A c.4586C>A (p.Thr1529Lys) c.4658C>A (p.Thr1553Lys) | |
| 3 | g.38554378T>A | CA352143782 | SCN5A | c.4711A>T (p.Thr1571Ser) c.4714A>T (p.Thr1572Ser) c.4660A>T (p.Thr1554Ser) c.4552A>T (p.Thr1518Ser) n.172A>T c.4585A>T (p.Thr1529Ser) c.4657A>T (p.Thr1553Ser) | |
| 3 | g.38554378T>C | CA352143781 | SCN5A | c.4711A>G (p.Thr1571Ala) c.4714A>G (p.Thr1572Ala) c.4660A>G (p.Thr1554Ala) c.4552A>G (p.Thr1518Ala) n.172A>G c.4585A>G (p.Thr1529Ala) c.4657A>G (p.Thr1553Ala) | |
| 3 | g.38554378T>G | CA352143780 | SCN5A | c.4711A>C (p.Thr1571Pro) c.4714A>C (p.Thr1572Pro) c.4660A>C (p.Thr1554Pro) c.4552A>C (p.Thr1518Pro) n.172A>C c.4585A>C (p.Thr1529Pro) c.4657A>C (p.Thr1553Pro) | |
| 3 | g.38554379G>A | CA433134604 | SCN5A | c.4710C>T (p.Phe1570=) c.4713C>T (p.Phe1571=) c.4659C>T (p.Phe1553=) c.4551C>T (p.Phe1517=) n.171C>T c.4584C>T (p.Phe1528=) c.4656C>T (p.Phe1552=) | |
| 3 | g.38554379G>C | CA352143783 | SCN5A | c.4710C>G (p.Phe1570Leu) c.4713C>G (p.Phe1571Leu) c.4659C>G (p.Phe1553Leu) c.4551C>G (p.Phe1517Leu) n.171C>G c.4584C>G (p.Phe1528Leu) c.4656C>G (p.Phe1552Leu) | |
| 3 | g.38554379G>T | CA352143784 | SCN5A | c.4710C>A (p.Phe1570Leu) c.4713C>A (p.Phe1571Leu) c.4659C>A (p.Phe1553Leu) c.4551C>A (p.Phe1517Leu) n.171C>A c.4584C>A (p.Phe1528Leu) c.4656C>A (p.Phe1552Leu) | |
| 3 | g.38554380A= | CA1358563220 | SCN5A | c.4709T= (p.Phe1570=) c.4712T= (p.Phe1571=) c.4658T= (p.Phe1553=) c.4550T= (p.Phe1517=) n.170T= c.4583T= (p.Phe1528=) c.4655T= (p.Phe1552=) | |
| 3 | g.38554380A>C | CA018496 | SCN5A | c.4709T>G (p.Phe1570Cys) c.4712T>G (p.Phe1571Cys) c.4658T>G (p.Phe1553Cys) c.4550T>G (p.Phe1517Cys) n.170T>G c.4583T>G (p.Phe1528Cys) c.4655T>G (p.Phe1552Cys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38554380A>G | CA352143785 | SCN5A | c.4709T>C (p.Phe1570Ser) c.4712T>C (p.Phe1571Ser) c.4658T>C (p.Phe1553Ser) c.4550T>C (p.Phe1517Ser) n.170T>C c.4583T>C (p.Phe1528Ser) c.4655T>C (p.Phe1552Ser) | |
| 3 | g.38554380A>T | CA352143786 | SCN5A | c.4709T>A (p.Phe1570Tyr) c.4712T>A (p.Phe1571Tyr) c.4658T>A (p.Phe1553Tyr) c.4550T>A (p.Phe1517Tyr) n.170T>A c.4583T>A (p.Phe1528Tyr) c.4655T>A (p.Phe1552Tyr) | |
| 3 | g.38554381A= | CA1358563222 | SCN5A | c.4708T= (p.Phe1570=) c.4711T= (p.Phe1571=) c.4657T= (p.Phe1553=) c.4549T= (p.Phe1517=) n.169T= c.4582T= (p.Phe1528=) c.4654T= (p.Phe1552=) | |
| 3 | g.38554381A>C | CA352143787 | SCN5A | c.4708T>G (p.Phe1570Val) c.4711T>G (p.Phe1571Val) c.4657T>G (p.Phe1553Val) c.4549T>G (p.Phe1517Val) n.169T>G c.4582T>G (p.Phe1528Val) c.4654T>G (p.Phe1552Val) | |
| 3 | g.38554381A>G | CA352143788 | SCN5A | c.4708T>C (p.Phe1570Leu) c.4711T>C (p.Phe1571Leu) c.4657T>C (p.Phe1553Leu) c.4549T>C (p.Phe1517Leu) n.169T>C c.4582T>C (p.Phe1528Leu) c.4654T>C (p.Phe1552Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38554381A>T | CA352143789 | SCN5A | c.4708T>A (p.Phe1570Ile) c.4711T>A (p.Phe1571Ile) c.4657T>A (p.Phe1553Ile) c.4549T>A (p.Phe1517Ile) n.169T>A c.4582T>A (p.Phe1528Ile) c.4654T>A (p.Phe1552Ile) | |
| 3 | g.38554382G>A | CA433134609 | SCN5A | c.4707C>T (p.Ile1569=) c.4710C>T (p.Ile1570=) c.4656C>T (p.Ile1552=) c.4548C>T (p.Ile1516=) n.168C>T c.4581C>T (p.Ile1527=) c.4653C>T (p.Ile1551=) | COSMIC COSMIC COSMIC |
| 3 | g.38554382G>C | CA352143790 | SCN5A | c.4707C>G (p.Ile1569Met) c.4710C>G (p.Ile1570Met) c.4656C>G (p.Ile1552Met) c.4548C>G (p.Ile1516Met) n.168C>G c.4581C>G (p.Ile1527Met) c.4653C>G (p.Ile1551Met) | |
| 3 | g.38554382G>T | CA433134610 | SCN5A | c.4707C>A (p.Ile1569=) c.4710C>A (p.Ile1570=) c.4656C>A (p.Ile1552=) c.4548C>A (p.Ile1516=) n.168C>A c.4581C>A (p.Ile1527=) c.4653C>A (p.Ile1551=) | |
| 3 | g.38554383_38554385dup | CA2586965693 | SCN5A | c.4705_4707dup (p.Ile1569_Phe1570insIle) c.4708_4710dup (p.Ile1570_Phe1571insIle) c.4654_4656dup (p.Ile1552_Phe1553insIle) c.4546_4548dup (p.Ile1516_Phe1517insIle) n.166_168dup c.4579_4581dup (p.Ile1527_Phe1528insIle) c.4651_4653dup (p.Ile1551_Phe1552insIle) | |
| 3 | g.38554383A>C | CA352143791 | SCN5A | c.4706T>G (p.Ile1569Ser) c.4709T>G (p.Ile1570Ser) c.4655T>G (p.Ile1552Ser) c.4547T>G (p.Ile1516Ser) n.167T>G c.4580T>G (p.Ile1527Ser) c.4652T>G (p.Ile1551Ser) | |
| 3 | g.38554383A>G | CA352143792 | SCN5A | c.4706T>C (p.Ile1569Thr) c.4709T>C (p.Ile1570Thr) c.4655T>C (p.Ile1552Thr) c.4547T>C (p.Ile1516Thr) n.167T>C c.4580T>C (p.Ile1527Thr) c.4652T>C (p.Ile1551Thr) | ClinVar |
| 3 | g.38554383A>T | CA352143793 | SCN5A | c.4706T>A (p.Ile1569Asn) c.4709T>A (p.Ile1570Asn) c.4655T>A (p.Ile1552Asn) c.4547T>A (p.Ile1516Asn) n.167T>A c.4580T>A (p.Ile1527Asn) c.4652T>A (p.Ile1551Asn) | |
| 3 | g.38554384T>A | CA352143794 | SCN5A | c.4705A>T (p.Ile1569Phe) c.4708A>T (p.Ile1570Phe) c.4654A>T (p.Ile1552Phe) c.4546A>T (p.Ile1516Phe) n.166A>T c.4579A>T (p.Ile1527Phe) c.4651A>T (p.Ile1551Phe) | |
| 3 | g.38554384T>C | CA352143795 | SCN5A | c.4705A>G (p.Ile1569Val) c.4708A>G (p.Ile1570Val) c.4654A>G (p.Ile1552Val) c.4546A>G (p.Ile1516Val) n.166A>G c.4579A>G (p.Ile1527Val) c.4651A>G (p.Ile1551Val) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38554384T>G | CA352143796 | SCN5A | c.4705A>C (p.Ile1569Leu) c.4708A>C (p.Ile1570Leu) c.4654A>C (p.Ile1552Leu) c.4546A>C (p.Ile1516Leu) n.166A>C c.4579A>C (p.Ile1527Leu) c.4651A>C (p.Ile1551Leu) | |
| 3 | g.38554384T= | CA1358563227 | SCN5A | c.4705A= (p.Ile1569=) c.4708A= (p.Ile1570=) c.4654A= (p.Ile1552=) c.4546A= (p.Ile1516=) n.166A= c.4579A= (p.Ile1527=) c.4651A= (p.Ile1551=) | |
| 3 | g.38554385G>A | CA433134615 | SCN5A | c.4704C>T (p.Ala1568=) c.4707C>T (p.Ala1569=) c.4653C>T (p.Ala1551=) c.4545C>T (p.Ala1515=) n.165C>T c.4578C>T (p.Ala1526=) c.4650C>T (p.Ala1550=) | |
| 3 | g.38554385G>C | CA433134616 | SCN5A | c.4704C>G (p.Ala1568=) c.4707C>G (p.Ala1569=) c.4653C>G (p.Ala1551=) c.4545C>G (p.Ala1515=) n.165C>G c.4578C>G (p.Ala1526=) c.4650C>G (p.Ala1550=) | |
| 3 | g.38554385G>T | CA433134617 | SCN5A | c.4704C>A (p.Ala1568=) c.4707C>A (p.Ala1569=) c.4653C>A (p.Ala1551=) c.4545C>A (p.Ala1515=) n.165C>A c.4578C>A (p.Ala1526=) c.4650C>A (p.Ala1550=) | |
| 3 | g.38554386G>A | CA352143797 | SCN5A | c.4703C>T (p.Ala1568Val) c.4706C>T (p.Ala1569Val) c.4652C>T (p.Ala1551Val) c.4544C>T (p.Ala1515Val) n.164C>T c.4577C>T (p.Ala1526Val) c.4649C>T (p.Ala1550Val) | |
| 3 | g.38554386G>C | CA352143799 | SCN5A | c.4703C>G (p.Ala1568Gly) c.4706C>G (p.Ala1569Gly) c.4652C>G (p.Ala1551Gly) c.4544C>G (p.Ala1515Gly) n.164C>G c.4577C>G (p.Ala1526Gly) c.4649C>G (p.Ala1550Gly) | |
| 3 | g.38554386G>T | CA352143798 | SCN5A | c.4703C>A (p.Ala1568Asp) c.4706C>A (p.Ala1569Asp) c.4652C>A (p.Ala1551Asp) c.4544C>A (p.Ala1515Asp) n.164C>A c.4577C>A (p.Ala1526Asp) c.4649C>A (p.Ala1550Asp) | |
| 3 | g.38554387C>A | CA352143800 | SCN5A | c.4702G>T (p.Ala1568Ser) c.4705G>T (p.Ala1569Ser) c.4651G>T (p.Ala1551Ser) c.4543G>T (p.Ala1515Ser) n.163G>T c.4576G>T (p.Ala1526Ser) c.4648G>T (p.Ala1550Ser) | |
| 3 | g.38554387C= | CA1358563235 | SCN5A | c.4702G= (p.Ala1568=) c.4705G= (p.Ala1569=) c.4651G= (p.Ala1551=) c.4543G= (p.Ala1515=) n.163G= c.4576G= (p.Ala1526=) c.4648G= (p.Ala1550=) | |
| 3 | g.38554387C>G | CA018491 | SCN5A | c.4702G>C (p.Ala1568Pro) c.4705G>C (p.Ala1569Pro) c.4651G>C (p.Ala1551Pro) c.4543G>C (p.Ala1515Pro) n.163G>C c.4576G>C (p.Ala1526Pro) c.4648G>C (p.Ala1550Pro) | ClinVar dbSNP |
| 3 | g.38554387C>T | CA352143801 | SCN5A | c.4702G>A (p.Ala1568Thr) c.4705G>A (p.Ala1569Thr) c.4651G>A (p.Ala1551Thr) c.4543G>A (p.Ala1515Thr) n.163G>A c.4576G>A (p.Ala1526Thr) c.4648G>A (p.Ala1550Thr) | gnomAD v4 |
| 3 | g.38554388C>A | CA433134619 | SCN5A | c.4701G>T (p.Val1567=) c.4704G>T (p.Val1568=) c.4650G>T (p.Val1550=) c.4542G>T (p.Val1514=) n.162G>T c.4575G>T (p.Val1525=) c.4647G>T (p.Val1549=) | |
| 3 | g.38554388C>G | CA433134620 | SCN5A | c.4701G>C (p.Val1567=) c.4704G>C (p.Val1568=) c.4650G>C (p.Val1550=) c.4542G>C (p.Val1514=) n.162G>C c.4575G>C (p.Val1525=) c.4647G>C (p.Val1549=) | ClinVar |
| 3 | g.38554388C>T | CA433134622 | SCN5A | c.4701G>A (p.Val1567=) c.4704G>A (p.Val1568=) c.4650G>A (p.Val1550=) c.4542G>A (p.Val1514=) n.162G>A c.4575G>A (p.Val1525=) c.4647G>A (p.Val1549=) | |
| 3 | g.38554389A>C | CA352143802 | SCN5A | c.4700T>G (p.Val1567Gly) c.4703T>G (p.Val1568Gly) c.4649T>G (p.Val1550Gly) c.4541T>G (p.Val1514Gly) n.161T>G c.4574T>G (p.Val1525Gly) c.4646T>G (p.Val1549Gly) | |
| 3 | g.38554389A>G | CA352143803 | SCN5A | c.4700T>C (p.Val1567Ala) c.4703T>C (p.Val1568Ala) c.4649T>C (p.Val1550Ala) c.4541T>C (p.Val1514Ala) n.161T>C c.4574T>C (p.Val1525Ala) c.4646T>C (p.Val1549Ala) | gnomAD v4 |
| 3 | g.38554389A>T | CA352143804 | SCN5A | c.4700T>A (p.Val1567Glu) c.4703T>A (p.Val1568Glu) c.4649T>A (p.Val1550Glu) c.4541T>A (p.Val1514Glu) n.161T>A c.4574T>A (p.Val1525Glu) c.4646T>A (p.Val1549Glu) | |
| 3 | g.38554390C>A | CA352143805 | SCN5A | c.4699G>T (p.Val1567Leu) c.4702G>T (p.Val1568Leu) c.4648G>T (p.Val1550Leu) c.4540G>T (p.Val1514Leu) n.160G>T c.4573G>T (p.Val1525Leu) c.4645G>T (p.Val1549Leu) | gnomAD v4 |
| 3 | g.38554390C>G | CA352143806 | SCN5A | c.4699G>C (p.Val1567Leu) c.4702G>C (p.Val1568Leu) c.4648G>C (p.Val1550Leu) c.4540G>C (p.Val1514Leu) n.160G>C c.4573G>C (p.Val1525Leu) c.4645G>C (p.Val1549Leu) | |
| 3 | g.38554390C>T | CA352143807 | SCN5A | c.4699G>A (p.Val1567Met) c.4702G>A (p.Val1568Met) c.4648G>A (p.Val1550Met) c.4540G>A (p.Val1514Met) n.160G>A c.4573G>A (p.Val1525Met) c.4645G>A (p.Val1549Met) | gnomAD v4 |
| 3 | g.38554391A>C | CA352143808 | SCN5A | c.4698T>G (p.Phe1566Leu) c.4701T>G (p.Phe1567Leu) c.4647T>G (p.Phe1549Leu) c.4539T>G (p.Phe1513Leu) n.159T>G c.4572T>G (p.Phe1524Leu) c.4644T>G (p.Phe1548Leu) | |
| 3 | g.38554391A>G | CA433134628 | SCN5A | c.4698T>C (p.Phe1566=) c.4701T>C (p.Phe1567=) c.4647T>C (p.Phe1549=) c.4539T>C (p.Phe1513=) n.159T>C c.4572T>C (p.Phe1524=) c.4644T>C (p.Phe1548=) | |
| 3 | g.38554391A>T | CA352143809 | SCN5A | c.4698T>A (p.Phe1566Leu) c.4701T>A (p.Phe1567Leu) c.4647T>A (p.Phe1549Leu) c.4539T>A (p.Phe1513Leu) n.159T>A c.4572T>A (p.Phe1524Leu) c.4644T>A (p.Phe1548Leu) | |
| 3 | g.38554392_38554393del | CA2586965694 | SCN5A | c.4697_4698del (p.Phe1566CysfsTer?) c.4700_4701del (p.Phe1567CysfsTer?) c.4646_4647del (p.Phe1549CysfsTer?) c.4538_4539del (p.Phe1513CysfsTer?) n.158_159del c.4571_4572del (p.Phe1524CysfsTer?) c.4643_4644del (p.Phe1548CysfsTer?) | |
| 3 | g.38554392A>C | CA352143810 | SCN5A | c.4697T>G (p.Phe1566Cys) c.4700T>G (p.Phe1567Cys) c.4646T>G (p.Phe1549Cys) c.4538T>G (p.Phe1513Cys) n.158T>G c.4571T>G (p.Phe1524Cys) c.4643T>G (p.Phe1548Cys) | |
| 3 | g.38554392A>G | CA352143812 | SCN5A | c.4697T>C (p.Phe1566Ser) c.4700T>C (p.Phe1567Ser) c.4646T>C (p.Phe1549Ser) c.4538T>C (p.Phe1513Ser) n.158T>C c.4571T>C (p.Phe1524Ser) c.4643T>C (p.Phe1548Ser) | |
| 3 | g.38554392A>T | CA352143811 | SCN5A | c.4697T>A (p.Phe1566Tyr) c.4700T>A (p.Phe1567Tyr) c.4646T>A (p.Phe1549Tyr) c.4538T>A (p.Phe1513Tyr) n.158T>A c.4571T>A (p.Phe1524Tyr) c.4643T>A (p.Phe1548Tyr) | |
| 3 | g.38554393A= | CA1358563238 | SCN5A | c.4696T= (p.Phe1566=) c.4699T= (p.Phe1567=) c.4645T= (p.Phe1549=) c.4537T= (p.Phe1513=) n.157T= c.4570T= (p.Phe1524=) c.4642T= (p.Phe1548=) | |
| 3 | g.38554393A>C | CA352143813 | SCN5A | c.4696T>G (p.Phe1566Val) c.4699T>G (p.Phe1567Val) c.4645T>G (p.Phe1549Val) c.4537T>G (p.Phe1513Val) n.157T>G c.4570T>G (p.Phe1524Val) c.4642T>G (p.Phe1548Val) | |
| 3 | g.38554393A>G | CA063547 | SCN5A | c.4696T>C (p.Phe1566Leu) c.4699T>C (p.Phe1567Leu) c.4645T>C (p.Phe1549Leu) c.4537T>C (p.Phe1513Leu) n.157T>C c.4570T>C (p.Phe1524Leu) c.4642T>C (p.Phe1548Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38554393A>T | CA352143814 | SCN5A | c.4696T>A (p.Phe1566Ile) c.4699T>A (p.Phe1567Ile) c.4645T>A (p.Phe1549Ile) c.4537T>A (p.Phe1513Ile) n.157T>A c.4570T>A (p.Phe1524Ile) c.4642T>A (p.Phe1548Ile) | |
| 3 | g.38554394G>A | CA063535 | SCN5A | c.4695C>T (p.Leu1565=) c.4698C>T (p.Leu1566=) c.4644C>T (p.Leu1548=) c.4536C>T (p.Leu1512=) n.156C>T c.4569C>T (p.Leu1523=) c.4641C>T (p.Leu1547=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38554394G>C | CA018483 | SCN5A | c.4695C>G (p.Leu1565=) c.4698C>G (p.Leu1566=) c.4644C>G (p.Leu1548=) c.4536C>G (p.Leu1512=) n.156C>G c.4569C>G (p.Leu1523=) c.4641C>G (p.Leu1547=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38554394G= | CA1358563246 | SCN5A | c.4695C= (p.Leu1565=) c.4698C= (p.Leu1566=) c.4644C= (p.Leu1548=) c.4536C= (p.Leu1512=) n.156C= c.4569C= (p.Leu1523=) c.4641C= (p.Leu1547=) | |
| 3 | g.38554394G>T | CA433134634 | SCN5A | c.4695C>A (p.Leu1565=) c.4698C>A (p.Leu1566=) c.4644C>A (p.Leu1548=) c.4536C>A (p.Leu1512=) n.156C>A c.4569C>A (p.Leu1523=) c.4641C>A (p.Leu1547=) | gnomAD v4 |
| 3 | g.38554394_38554395delinsGA | CA1358563252 | SCN5A | c.4694_4695delinsTC (p.Leu1565=) c.4697_4698delinsTC (p.Leu1566=) c.4643_4644delinsTC (p.Leu1548=) c.4535_4536delinsTC (p.Leu1512=) n.155_156delinsTC c.4568_4569delinsTC (p.Leu1523=) c.4640_4641delinsTC (p.Leu1547=) | |
| 3 | g.38554394_38554395delinsTT | CA1358563253 | SCN5A | c.4694_4695delinsAA (p.Leu1565Gln) c.4697_4698delinsAA (p.Leu1566Gln) c.4643_4644delinsAA (p.Leu1548Gln) c.4535_4536delinsAA (p.Leu1512Gln) n.155_156delinsAA c.4568_4569delinsAA (p.Leu1523Gln) c.4640_4641delinsAA (p.Leu1547Gln) | ClinVar dbSNP |
| 3 | g.38554395A>C | CA352143815 | SCN5A | c.4694T>G (p.Leu1565Arg) c.4697T>G (p.Leu1566Arg) c.4643T>G (p.Leu1548Arg) c.4535T>G (p.Leu1512Arg) n.155T>G c.4568T>G (p.Leu1523Arg) c.4640T>G (p.Leu1547Arg) | |
| 3 | g.38554395A>G | CA352143816 | SCN5A | c.4694T>C (p.Leu1565Pro) c.4697T>C (p.Leu1566Pro) c.4643T>C (p.Leu1548Pro) c.4535T>C (p.Leu1512Pro) n.155T>C c.4568T>C (p.Leu1523Pro) c.4640T>C (p.Leu1547Pro) | |
| 3 | g.38554395A>T | CA352143817 | SCN5A | c.4694T>A (p.Leu1565His) c.4697T>A (p.Leu1566His) c.4643T>A (p.Leu1548His) c.4535T>A (p.Leu1512His) n.155T>A c.4568T>A (p.Leu1523His) c.4640T>A (p.Leu1547His) | gnomAD v4 |
| 3 | g.38554396G>A | CA352143818 | SCN5A | c.4693C>T (p.Leu1565Phe) c.4696C>T (p.Leu1566Phe) c.4642C>T (p.Leu1548Phe) c.4534C>T (p.Leu1512Phe) n.154C>T c.4567C>T (p.Leu1523Phe) c.4639C>T (p.Leu1547Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38554396G>C | CA352143819 | SCN5A | c.4693C>G (p.Leu1565Val) c.4696C>G (p.Leu1566Val) c.4642C>G (p.Leu1548Val) c.4534C>G (p.Leu1512Val) n.154C>G c.4567C>G (p.Leu1523Val) c.4639C>G (p.Leu1547Val) | |
| 3 | g.38554396G= | CA1358563257 | SCN5A | c.4693C= (p.Leu1565=) c.4696C= (p.Leu1566=) c.4642C= (p.Leu1548=) c.4534C= (p.Leu1512=) n.154C= c.4567C= (p.Leu1523=) c.4639C= (p.Leu1547=) | |
| 3 | g.38554396G>T | CA352143820 | SCN5A | c.4693C>A (p.Leu1565Ile) c.4696C>A (p.Leu1566Ile) c.4642C>A (p.Leu1548Ile) c.4534C>A (p.Leu1512Ile) n.154C>A c.4567C>A (p.Leu1523Ile) c.4639C>A (p.Leu1547Ile) | |
| 3 | g.38554397C>A | CA433134636 | SCN5A | c.4692G>T (p.Leu1564=) c.4695G>T (p.Leu1565=) c.4641G>T (p.Leu1547=) c.4533G>T (p.Leu1511=) n.153G>T c.4566G>T (p.Leu1522=) c.4638G>T (p.Leu1546=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38554397C= | CA1358563261 | SCN5A | c.4692G= (p.Leu1564=) c.4695G= (p.Leu1565=) c.4641G= (p.Leu1547=) c.4533G= (p.Leu1511=) n.153G= c.4566G= (p.Leu1522=) c.4638G= (p.Leu1546=) | |
| 3 | g.38554397C>G | CA433134637 | SCN5A | c.4692G>C (p.Leu1564=) c.4695G>C (p.Leu1565=) c.4641G>C (p.Leu1547=) c.4533G>C (p.Leu1511=) n.153G>C c.4566G>C (p.Leu1522=) c.4638G>C (p.Leu1546=) | dbSNP gnomAD v4 |
| 3 | g.38554397C>T | CA063516 | SCN5A | c.4692G>A (p.Leu1564=) c.4695G>A (p.Leu1565=) c.4641G>A (p.Leu1547=) c.4533G>A (p.Leu1511=) n.153G>A c.4566G>A (p.Leu1522=) c.4638G>A (p.Leu1546=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38554398A>C | CA352143823 | SCN5A | c.4691T>G (p.Leu1564Arg) c.4694T>G (p.Leu1565Arg) c.4640T>G (p.Leu1547Arg) c.4532T>G (p.Leu1511Arg) n.152T>G c.4565T>G (p.Leu1522Arg) c.4637T>G (p.Leu1546Arg) | |
| 3 | g.38554398A>G | CA352143821 | SCN5A | c.4691T>C (p.Leu1564Pro) c.4694T>C (p.Leu1565Pro) c.4640T>C (p.Leu1547Pro) c.4532T>C (p.Leu1511Pro) n.152T>C c.4565T>C (p.Leu1522Pro) c.4637T>C (p.Leu1546Pro) | |
| 3 | g.38554398A>T | CA352143822 | SCN5A | c.4691T>A (p.Leu1564Gln) c.4694T>A (p.Leu1565Gln) c.4640T>A (p.Leu1547Gln) c.4532T>A (p.Leu1511Gln) n.152T>A c.4565T>A (p.Leu1522Gln) c.4637T>A (p.Leu1546Gln) | |
| 3 | g.38554399G>A | CA433134639 | SCN5A | c.4690C>T (p.Leu1564=) c.4693C>T (p.Leu1565=) c.4639C>T (p.Leu1547=) c.4531C>T (p.Leu1511=) n.151C>T c.4564C>T (p.Leu1522=) c.4636C>T (p.Leu1546=) | |
| 3 | g.38554399G>C | CA352143824 | SCN5A | c.4690C>G (p.Leu1564Val) c.4693C>G (p.Leu1565Val) c.4639C>G (p.Leu1547Val) c.4531C>G (p.Leu1511Val) n.151C>G c.4564C>G (p.Leu1522Val) c.4636C>G (p.Leu1546Val) | |
| 3 | g.38554399G= | CA1358563265 | SCN5A | c.4690C= (p.Leu1564=) c.4693C= (p.Leu1565=) c.4639C= (p.Leu1547=) c.4531C= (p.Leu1511=) n.151C= c.4564C= (p.Leu1522=) c.4636C= (p.Leu1546=) | |
| 3 | g.38554399G>T | CA352143825 | SCN5A | c.4690C>A (p.Leu1564Met) c.4693C>A (p.Leu1565Met) c.4639C>A (p.Leu1547Met) c.4531C>A (p.Leu1511Met) n.151C>A c.4564C>A (p.Leu1522Met) c.4636C>A (p.Leu1546Met) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38554400G>A | CA433134641 | SCN5A | c.4689C>T (p.Asn1563=) c.4692C>T (p.Asn1564=) c.4638C>T (p.Asn1546=) c.4530C>T (p.Asn1510=) n.150C>T c.4563C>T (p.Asn1521=) c.4635C>T (p.Asn1545=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38554400G>C | CA352143826 | SCN5A | c.4689C>G (p.Asn1563Lys) c.4692C>G (p.Asn1564Lys) c.4638C>G (p.Asn1546Lys) c.4530C>G (p.Asn1510Lys) n.150C>G c.4563C>G (p.Asn1521Lys) c.4635C>G (p.Asn1545Lys) | |
| 3 | g.38554400G>T | CA352143827 | SCN5A | c.4689C>A (p.Asn1563Lys) c.4692C>A (p.Asn1564Lys) c.4638C>A (p.Asn1546Lys) c.4530C>A (p.Asn1510Lys) n.150C>A c.4563C>A (p.Asn1521Lys) c.4635C>A (p.Asn1545Lys) | |
| 3 | g.38554401T>A | CA352143828 | SCN5A | c.4688A>T (p.Asn1563Ile) c.4691A>T (p.Asn1564Ile) c.4637A>T (p.Asn1546Ile) c.4529A>T (p.Asn1510Ile) n.149A>T c.4562A>T (p.Asn1521Ile) c.4634A>T (p.Asn1545Ile) | |
| 3 | g.38554401T>C | CA352143829 | SCN5A | c.4688A>G (p.Asn1563Ser) c.4691A>G (p.Asn1564Ser) c.4637A>G (p.Asn1546Ser) c.4529A>G (p.Asn1510Ser) n.149A>G c.4562A>G (p.Asn1521Ser) c.4634A>G (p.Asn1545Ser) | gnomAD v4 |
| 3 | g.38554401T>G | CA352143830 | SCN5A | c.4688A>C (p.Asn1563Thr) c.4691A>C (p.Asn1564Thr) c.4637A>C (p.Asn1546Thr) c.4529A>C (p.Asn1510Thr) n.149A>C c.4562A>C (p.Asn1521Thr) c.4634A>C (p.Asn1545Thr) | |
| 3 | g.38554402T>A | CA352143831 | SCN5A | c.4687A>T (p.Asn1563Tyr) c.4690A>T (p.Asn1564Tyr) c.4636A>T (p.Asn1546Tyr) c.4528A>T (p.Asn1510Tyr) n.148A>T c.4561A>T (p.Asn1521Tyr) c.4633A>T (p.Asn1545Tyr) | |
| 3 | g.38554402T>C | CA352143832 | SCN5A | c.4687A>G (p.Asn1563Asp) c.4690A>G (p.Asn1564Asp) c.4636A>G (p.Asn1546Asp) c.4528A>G (p.Asn1510Asp) n.148A>G c.4561A>G (p.Asn1521Asp) c.4633A>G (p.Asn1545Asp) | |
| 3 | g.38554402T>G | CA352143833 | SCN5A | c.4687A>C (p.Asn1563His) c.4690A>C (p.Asn1564His) c.4636A>C (p.Asn1546His) c.4528A>C (p.Asn1510His) n.148A>C c.4561A>C (p.Asn1521His) c.4633A>C (p.Asn1545His) | |
| 3 | g.38554403G>A | CA433134643 | SCN5A | c.4686C>T (p.Ile1562=) c.4689C>T (p.Ile1563=) c.4635C>T (p.Ile1545=) c.4527C>T (p.Ile1509=) n.147C>T c.4560C>T (p.Ile1520=) c.4632C>T (p.Ile1544=) | gnomAD v4 |
| 3 | g.38554403G>C | CA352143834 | SCN5A | c.4686C>G (p.Ile1562Met) c.4689C>G (p.Ile1563Met) c.4635C>G (p.Ile1545Met) c.4527C>G (p.Ile1509Met) n.147C>G c.4560C>G (p.Ile1520Met) c.4632C>G (p.Ile1544Met) | |
| 3 | g.38554403G>T | CA433134647 | SCN5A | c.4686C>A (p.Ile1562=) c.4689C>A (p.Ile1563=) c.4635C>A (p.Ile1545=) c.4527C>A (p.Ile1509=) n.147C>A c.4560C>A (p.Ile1520=) c.4632C>A (p.Ile1544=) | |
| 3 | g.38554404A>C | CA352143836 | SCN5A | c.4685T>G (p.Ile1562Ser) c.4688T>G (p.Ile1563Ser) c.4634T>G (p.Ile1545Ser) c.4526T>G (p.Ile1509Ser) n.146T>G c.4559T>G (p.Ile1520Ser) c.4631T>G (p.Ile1544Ser) | |
| 3 | g.38554404A>G | CA352143837 | SCN5A | c.4685T>C (p.Ile1562Thr) c.4688T>C (p.Ile1563Thr) c.4634T>C (p.Ile1545Thr) c.4526T>C (p.Ile1509Thr) n.146T>C c.4559T>C (p.Ile1520Thr) c.4631T>C (p.Ile1544Thr) | |
| 3 | g.38554404A>T | CA352143835 | SCN5A | c.4685T>A (p.Ile1562Asn) c.4688T>A (p.Ile1563Asn) c.4634T>A (p.Ile1545Asn) c.4526T>A (p.Ile1509Asn) n.146T>A c.4559T>A (p.Ile1520Asn) c.4631T>A (p.Ile1544Asn) | |
| 3 | g.38554405T>A | CA352143839 | SCN5A | c.4684A>T (p.Ile1562Phe) c.4687A>T (p.Ile1563Phe) c.4633A>T (p.Ile1545Phe) c.4525A>T (p.Ile1509Phe) n.145A>T c.4558A>T (p.Ile1520Phe) c.4630A>T (p.Ile1544Phe) | |
| 3 | g.38554405T>C | CA352143838 | SCN5A | c.4684A>G (p.Ile1562Val) c.4687A>G (p.Ile1563Val) c.4633A>G (p.Ile1545Val) c.4525A>G (p.Ile1509Val) n.145A>G c.4558A>G (p.Ile1520Val) c.4630A>G (p.Ile1544Val) | |
| 3 | g.38554405T>G | CA352143840 | SCN5A | c.4684A>C (p.Ile1562Leu) c.4687A>C (p.Ile1563Leu) c.4633A>C (p.Ile1545Leu) c.4525A>C (p.Ile1509Leu) n.145A>C c.4558A>C (p.Ile1520Leu) c.4630A>C (p.Ile1544Leu) | |
| 3 | g.38554406C>A | CA352143841 | SCN5A | c.4683G>T (p.Lys1561Asn) c.4686G>T (p.Lys1562Asn) c.4632G>T (p.Lys1544Asn) c.4524G>T (p.Lys1508Asn) n.144G>T c.4557G>T (p.Lys1519Asn) c.4629G>T (p.Lys1543Asn) | |
| 3 | g.38554406C= | CA1358563268 | SCN5A | c.4683G= (p.Lys1561=) c.4686G= (p.Lys1562=) c.4632G= (p.Lys1544=) c.4524G= (p.Lys1508=) n.144G= c.4557G= (p.Lys1519=) c.4629G= (p.Lys1543=) | |
| 3 | g.38554406C>G | CA352143842 | SCN5A | c.4683G>C (p.Lys1561Asn) c.4686G>C (p.Lys1562Asn) c.4632G>C (p.Lys1544Asn) c.4524G>C (p.Lys1508Asn) n.144G>C c.4557G>C (p.Lys1519Asn) c.4629G>C (p.Lys1543Asn) | |
| 3 | g.38554406C>T | CA433134649 | SCN5A | c.4683G>A (p.Lys1561=) c.4686G>A (p.Lys1562=) c.4632G>A (p.Lys1544=) c.4524G>A (p.Lys1508=) n.144G>A c.4557G>A (p.Lys1519=) c.4629G>A (p.Lys1543=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |