| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38551449dup | CA645535368 | SCN5A | c.4923dup (p.Ile1642AspfsTer?) c.4926dup (p.Ile1643AspfsTer?) c.4872dup (p.Ile1625AspfsTer?) c.4764dup (p.Ile1589AspfsTer?) c.4827dup (p.Ile1610AspfsTer?) c.4797dup (p.Ile1600AspfsTer?) c.4869dup (p.Ile1624AspfsTer?) | COSMIC COSMIC COSMIC |
| 3 | g.38551447C>A | CA352142954 | SCN5A | c.4922G>T (p.Gly1641Val) c.4925G>T (p.Gly1642Val) c.4871G>T (p.Gly1624Val) c.4763G>T (p.Gly1588Val) c.4826G>T (p.Gly1609Val) c.4796G>T (p.Gly1599Val) c.4868G>T (p.Gly1623Val) | |
| 3 | g.38551447C= | CA1358558085 | SCN5A | c.4922G= (p.Gly1641=) c.4925G= (p.Gly1642=) c.4871G= (p.Gly1624=) c.4763G= (p.Gly1588=) c.4826G= (p.Gly1609=) c.4796G= (p.Gly1599=) c.4868G= (p.Gly1623=) | |
| 3 | g.38551447C>G | CA352142955 | SCN5A | c.4922G>C (p.Gly1641Ala) c.4925G>C (p.Gly1642Ala) c.4871G>C (p.Gly1624Ala) c.4763G>C (p.Gly1588Ala) c.4826G>C (p.Gly1609Ala) c.4796G>C (p.Gly1599Ala) c.4868G>C (p.Gly1623Ala) | |
| 3 | g.38551447C>T | CA018747 | SCN5A | c.4922G>A (p.Gly1641Glu) c.4925G>A (p.Gly1642Glu) c.4871G>A (p.Gly1624Glu) c.4763G>A (p.Gly1588Glu) c.4826G>A (p.Gly1609Glu) c.4796G>A (p.Gly1599Glu) c.4868G>A (p.Gly1623Glu) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551448C>A | CA352142957 | SCN5A | c.4921G>T (p.Gly1641Trp) c.4924G>T (p.Gly1642Trp) c.4870G>T (p.Gly1624Trp) c.4762G>T (p.Gly1588Trp) c.4825G>T (p.Gly1609Trp) c.4795G>T (p.Gly1599Trp) c.4867G>T (p.Gly1623Trp) | |
| 3 | g.38551448C>G | CA352142958 | SCN5A | c.4921G>C (p.Gly1641Arg) c.4924G>C (p.Gly1642Arg) c.4870G>C (p.Gly1624Arg) c.4762G>C (p.Gly1588Arg) c.4825G>C (p.Gly1609Arg) c.4795G>C (p.Gly1599Arg) c.4867G>C (p.Gly1623Arg) | |
| 3 | g.38551448C>T | CA352142956 | SCN5A | c.4921G>A (p.Gly1641Arg) c.4924G>A (p.Gly1642Arg) c.4870G>A (p.Gly1624Arg) c.4762G>A (p.Gly1588Arg) c.4825G>A (p.Gly1609Arg) c.4795G>A (p.Gly1599Arg) c.4867G>A (p.Gly1623Arg) | |
| 3 | g.38551449C>A | CA352142959 | SCN5A | c.4920G>T (p.Lys1640Asn) c.4923G>T (p.Lys1641Asn) c.4869G>T (p.Lys1623Asn) c.4761G>T (p.Lys1587Asn) c.4824G>T (p.Lys1608Asn) c.4794G>T (p.Lys1598Asn) c.4866G>T (p.Lys1622Asn) | |
| 3 | g.38551449C>G | CA352142960 | SCN5A | c.4920G>C (p.Lys1640Asn) c.4923G>C (p.Lys1641Asn) c.4869G>C (p.Lys1623Asn) c.4761G>C (p.Lys1587Asn) c.4824G>C (p.Lys1608Asn) c.4794G>C (p.Lys1598Asn) c.4866G>C (p.Lys1622Asn) | |
| 3 | g.38551449C>T | CA433134242 | SCN5A | c.4920G>A (p.Lys1640=) c.4923G>A (p.Lys1641=) c.4869G>A (p.Lys1623=) c.4761G>A (p.Lys1587=) c.4824G>A (p.Lys1608=) c.4794G>A (p.Lys1598=) c.4866G>A (p.Lys1622=) | gnomAD v4 |
| 3 | g.38551450T>A | CA352142961 | SCN5A | c.4919A>T (p.Lys1640Met) c.4922A>T (p.Lys1641Met) c.4868A>T (p.Lys1623Met) c.4760A>T (p.Lys1587Met) c.4823A>T (p.Lys1608Met) c.4793A>T (p.Lys1598Met) c.4865A>T (p.Lys1622Met) | gnomAD v4 |
| 3 | g.38551450T>C | CA352142962 | SCN5A | c.4919A>G (p.Lys1640Arg) c.4922A>G (p.Lys1641Arg) c.4868A>G (p.Lys1623Arg) c.4760A>G (p.Lys1587Arg) c.4823A>G (p.Lys1608Arg) c.4793A>G (p.Lys1598Arg) c.4865A>G (p.Lys1622Arg) | ClinVar gnomAD v4 |
| 3 | g.38551450T>G | CA352142963 | SCN5A | c.4919A>C (p.Lys1640Thr) c.4922A>C (p.Lys1641Thr) c.4868A>C (p.Lys1623Thr) c.4760A>C (p.Lys1587Thr) c.4823A>C (p.Lys1608Thr) c.4793A>C (p.Lys1598Thr) c.4865A>C (p.Lys1622Thr) | |
| 3 | g.38551451T>A | CA352142966 | SCN5A | c.4918A>T (p.Lys1640Ter) c.4921A>T (p.Lys1641Ter) c.4867A>T (p.Lys1623Ter) c.4759A>T (p.Lys1587Ter) c.4822A>T (p.Lys1608Ter) c.4792A>T (p.Lys1598Ter) c.4864A>T (p.Lys1622Ter) | |
| 3 | g.38551451T>C | CA352142964 | SCN5A | c.4918A>G (p.Lys1640Glu) c.4921A>G (p.Lys1641Glu) c.4867A>G (p.Lys1623Glu) c.4759A>G (p.Lys1587Glu) c.4822A>G (p.Lys1608Glu) c.4792A>G (p.Lys1598Glu) c.4864A>G (p.Lys1622Glu) | |
| 3 | g.38551451T>G | CA352142965 | SCN5A | c.4918A>C (p.Lys1640Gln) c.4921A>C (p.Lys1641Gln) c.4867A>C (p.Lys1623Gln) c.4759A>C (p.Lys1587Gln) c.4822A>C (p.Lys1608Gln) c.4792A>C (p.Lys1598Gln) c.4864A>C (p.Lys1622Gln) | |
| 3 | g.38551452G>A | CA433134243 | SCN5A | c.4917C>T (p.Ala1639=) c.4920C>T (p.Ala1640=) c.4866C>T (p.Ala1622=) c.4758C>T (p.Ala1586=) c.4821C>T (p.Ala1607=) c.4791C>T (p.Ala1597=) c.4863C>T (p.Ala1621=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551452G>C | CA433134244 | SCN5A | c.4917C>G (p.Ala1639=) c.4920C>G (p.Ala1640=) c.4866C>G (p.Ala1622=) c.4758C>G (p.Ala1586=) c.4821C>G (p.Ala1607=) c.4791C>G (p.Ala1597=) c.4863C>G (p.Ala1621=) | |
| 3 | g.38551452G= | CA1358558094 | SCN5A | c.4917C= (p.Ala1639=) c.4920C= (p.Ala1640=) c.4866C= (p.Ala1622=) c.4758C= (p.Ala1586=) c.4821C= (p.Ala1607=) c.4791C= (p.Ala1597=) c.4863C= (p.Ala1621=) | |
| 3 | g.38551452G>T | CA433134245 | SCN5A | c.4917C>A (p.Ala1639=) c.4920C>A (p.Ala1640=) c.4866C>A (p.Ala1622=) c.4758C>A (p.Ala1586=) c.4821C>A (p.Ala1607=) c.4791C>A (p.Ala1597=) c.4863C>A (p.Ala1621=) | dbSNP |
| 3 | g.38551453G>A | CA352142967 | SCN5A | c.4916C>T (p.Ala1639Val) c.4919C>T (p.Ala1640Val) c.4865C>T (p.Ala1622Val) c.4757C>T (p.Ala1586Val) c.4820C>T (p.Ala1607Val) c.4790C>T (p.Ala1597Val) c.4862C>T (p.Ala1621Val) | |
| 3 | g.38551453G>C | CA352142968 | SCN5A | c.4916C>G (p.Ala1639Gly) c.4919C>G (p.Ala1640Gly) c.4865C>G (p.Ala1622Gly) c.4757C>G (p.Ala1586Gly) c.4820C>G (p.Ala1607Gly) c.4790C>G (p.Ala1597Gly) c.4862C>G (p.Ala1621Gly) | dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38551453G= | CA1358558100 | SCN5A | c.4916C= (p.Ala1639=) c.4919C= (p.Ala1640=) c.4865C= (p.Ala1622=) c.4757C= (p.Ala1586=) c.4820C= (p.Ala1607=) c.4790C= (p.Ala1597=) c.4862C= (p.Ala1621=) | |
| 3 | g.38551453G>T | CA352142969 | SCN5A | c.4916C>A (p.Ala1639Asp) c.4919C>A (p.Ala1640Asp) c.4865C>A (p.Ala1622Asp) c.4757C>A (p.Ala1586Asp) c.4820C>A (p.Ala1607Asp) c.4790C>A (p.Ala1597Asp) c.4862C>A (p.Ala1621Asp) | |
| 3 | g.38551454C>A | CA352142970 | SCN5A | c.4915G>T (p.Ala1639Ser) c.4918G>T (p.Ala1640Ser) c.4864G>T (p.Ala1622Ser) c.4756G>T (p.Ala1586Ser) c.4819G>T (p.Ala1607Ser) c.4789G>T (p.Ala1597Ser) c.4861G>T (p.Ala1621Ser) | |
| 3 | g.38551454C= | CA1358558105 | SCN5A | c.4915G= (p.Ala1639=) c.4918G= (p.Ala1640=) c.4864G= (p.Ala1622=) c.4756G= (p.Ala1586=) c.4819G= (p.Ala1607=) c.4789G= (p.Ala1597=) c.4861G= (p.Ala1621=) | |
| 3 | g.38551454C>G | CA352142971 | SCN5A | c.4915G>C (p.Ala1639Pro) c.4918G>C (p.Ala1640Pro) c.4864G>C (p.Ala1622Pro) c.4756G>C (p.Ala1586Pro) c.4819G>C (p.Ala1607Pro) c.4789G>C (p.Ala1597Pro) c.4861G>C (p.Ala1621Pro) | |
| 3 | g.38551454C>T | CA72938309 | SCN5A | c.4915G>A (p.Ala1639Thr) c.4918G>A (p.Ala1640Thr) c.4864G>A (p.Ala1622Thr) c.4756G>A (p.Ala1586Thr) c.4819G>A (p.Ala1607Thr) c.4789G>A (p.Ala1597Thr) c.4861G>A (p.Ala1621Thr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551455C>A | CA433134246 | SCN5A | c.4914G>T (p.Gly1638=) c.4917G>T (p.Gly1639=) c.4863G>T (p.Gly1621=) c.4755G>T (p.Gly1585=) c.4818G>T (p.Gly1606=) c.4788G>T (p.Gly1596=) c.4860G>T (p.Gly1620=) | |
| 3 | g.38551455C= | CA1358558110 | SCN5A | c.4914G= (p.Gly1638=) c.4917G= (p.Gly1639=) c.4863G= (p.Gly1621=) c.4755G= (p.Gly1585=) c.4818G= (p.Gly1606=) c.4788G= (p.Gly1596=) c.4860G= (p.Gly1620=) | |
| 3 | g.38551455C>G | CA433134247 | SCN5A | c.4914G>C (p.Gly1638=) c.4917G>C (p.Gly1639=) c.4863G>C (p.Gly1621=) c.4755G>C (p.Gly1585=) c.4818G>C (p.Gly1606=) c.4788G>C (p.Gly1596=) c.4860G>C (p.Gly1620=) | |
| 3 | g.38551455C>T | CA433134248 | SCN5A | c.4914G>A (p.Gly1638=) c.4917G>A (p.Gly1639=) c.4863G>A (p.Gly1621=) c.4755G>A (p.Gly1585=) c.4818G>A (p.Gly1606=) c.4788G>A (p.Gly1596=) c.4860G>A (p.Gly1620=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551456C>A | CA352142973 | SCN5A | c.4913G>T (p.Gly1638Val) c.4916G>T (p.Gly1639Val) c.4862G>T (p.Gly1621Val) c.4754G>T (p.Gly1585Val) c.4817G>T (p.Gly1606Val) c.4787G>T (p.Gly1596Val) c.4859G>T (p.Gly1620Val) | COSMIC |
| 3 | g.38551456C= | CA1358558117 | SCN5A | c.4913G= (p.Gly1638=) c.4916G= (p.Gly1639=) c.4862G= (p.Gly1621=) c.4754G= (p.Gly1585=) c.4817G= (p.Gly1606=) c.4787G= (p.Gly1596=) c.4859G= (p.Gly1620=) | |
| 3 | g.38551456C>G | CA063960 | SCN5A | c.4913G>C (p.Gly1638Ala) c.4916G>C (p.Gly1639Ala) c.4862G>C (p.Gly1621Ala) c.4754G>C (p.Gly1585Ala) c.4817G>C (p.Gly1606Ala) c.4787G>C (p.Gly1596Ala) c.4859G>C (p.Gly1620Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38551456C>T | CA352142972 | SCN5A | c.4913G>A (p.Gly1638Glu) c.4916G>A (p.Gly1639Glu) c.4862G>A (p.Gly1621Glu) c.4754G>A (p.Gly1585Glu) c.4817G>A (p.Gly1606Glu) c.4787G>A (p.Gly1596Glu) c.4859G>A (p.Gly1620Glu) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38551457C>A | CA352142976 | SCN5A | c.4912G>T (p.Gly1638Trp) c.4915G>T (p.Gly1639Trp) c.4861G>T (p.Gly1621Trp) c.4753G>T (p.Gly1585Trp) c.4816G>T (p.Gly1606Trp) c.4786G>T (p.Gly1596Trp) c.4858G>T (p.Gly1620Trp) | |
| 3 | g.38551457C>G | CA352142974 | SCN5A | c.4912G>C (p.Gly1638Arg) c.4915G>C (p.Gly1639Arg) c.4861G>C (p.Gly1621Arg) c.4753G>C (p.Gly1585Arg) c.4816G>C (p.Gly1606Arg) c.4786G>C (p.Gly1596Arg) c.4858G>C (p.Gly1620Arg) | |
| 3 | g.38551457C>T | CA352142975 | SCN5A | c.4912G>A (p.Gly1638Arg) c.4915G>A (p.Gly1639Arg) c.4861G>A (p.Gly1621Arg) c.4753G>A (p.Gly1585Arg) c.4816G>A (p.Gly1606Arg) c.4786G>A (p.Gly1596Arg) c.4858G>A (p.Gly1620Arg) | gnomAD v4 |
| 3 | g.38551458T>A | CA063950 | SCN5A | c.4911A>T (p.Arg1637=) c.4914A>T (p.Arg1638=) c.4860A>T (p.Arg1620=) c.4752A>T (p.Arg1584=) c.4815A>T (p.Arg1605=) c.4785A>T (p.Arg1595=) c.4857A>T (p.Arg1619=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38551458T>C | CA433134249 | SCN5A | c.4911A>G (p.Arg1637=) c.4914A>G (p.Arg1638=) c.4860A>G (p.Arg1620=) c.4752A>G (p.Arg1584=) c.4815A>G (p.Arg1605=) c.4785A>G (p.Arg1595=) c.4857A>G (p.Arg1619=) | |
| 3 | g.38551458T>G | CA433134250 | SCN5A | c.4911A>C (p.Arg1637=) c.4914A>C (p.Arg1638=) c.4860A>C (p.Arg1620=) c.4752A>C (p.Arg1584=) c.4815A>C (p.Arg1605=) c.4785A>C (p.Arg1595=) c.4857A>C (p.Arg1619=) | ClinVar |
| 3 | g.38551458T= | CA1358558120 | SCN5A | c.4911A= (p.Arg1637=) c.4914A= (p.Arg1638=) c.4860A= (p.Arg1620=) c.4752A= (p.Arg1584=) c.4815A= (p.Arg1605=) c.4785A= (p.Arg1595=) c.4857A= (p.Arg1619=) | |
| 3 | g.38551459C>A | CA352142977 | SCN5A | c.4910G>T (p.Arg1637Leu) c.4913G>T (p.Arg1638Leu) c.4859G>T (p.Arg1620Leu) c.4751G>T (p.Arg1584Leu) c.4814G>T (p.Arg1605Leu) c.4784G>T (p.Arg1595Leu) c.4856G>T (p.Arg1619Leu) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38551459C= | CA1358558124 | SCN5A | c.4910G= (p.Arg1637=) c.4913G= (p.Arg1638=) c.4859G= (p.Arg1620=) c.4751G= (p.Arg1584=) c.4814G= (p.Arg1605=) c.4784G= (p.Arg1595=) c.4856G= (p.Arg1619=) | |
| 3 | g.38551459C>G | CA16604565 | SCN5A | c.4910G>C (p.Arg1637Pro) c.4913G>C (p.Arg1638Pro) c.4859G>C (p.Arg1620Pro) c.4751G>C (p.Arg1584Pro) c.4814G>C (p.Arg1605Pro) c.4784G>C (p.Arg1595Pro) c.4856G>C (p.Arg1619Pro) | ClinVar dbSNP |
| 3 | g.38551459C>T | CA063944 | SCN5A | c.4910G>A (p.Arg1637Gln) c.4913G>A (p.Arg1638Gln) c.4859G>A (p.Arg1620Gln) c.4751G>A (p.Arg1584Gln) c.4814G>A (p.Arg1605Gln) c.4784G>A (p.Arg1595Gln) c.4856G>A (p.Arg1619Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551460G>A | CA063937 | SCN5A | c.4909C>T (p.Arg1637Ter) c.4912C>T (p.Arg1638Ter) c.4858C>T (p.Arg1620Ter) c.4750C>T (p.Arg1584Ter) c.4813C>T (p.Arg1605Ter) c.4783C>T (p.Arg1595Ter) c.4855C>T (p.Arg1619Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38551460G>C | CA352142978 | SCN5A | c.4909C>G (p.Arg1637Gly) c.4912C>G (p.Arg1638Gly) c.4858C>G (p.Arg1620Gly) c.4750C>G (p.Arg1584Gly) c.4813C>G (p.Arg1605Gly) c.4783C>G (p.Arg1595Gly) c.4855C>G (p.Arg1619Gly) |