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.38554279_38554282dup | CA10586351 | SCN5A | c.4810+3_4810+6dup c.4813+3_4813+6dup c.4759+3_4759+6dup c.4651+3_4651+6dup c.4714+99_4714+102dup (n.4714+99_4714+102dup) n.271+3_271+6dup c.4684+3_4684+6dup c.4756+3_4756+6dup | ClinVar gnomAD v4 |
| 3 | g.38554275C>A | CA2665110175 | SCN5A | c.4810+4G>T (n.4810+4G>T) c.4813+4G>T (n.4813+4G>T) c.4759+4G>T (n.4759+4G>T) c.4651+4G>T (n.4651+4G>T) c.4714+100G>T (n.4714+100G>T) n.271+4G>T c.4684+4G>T (n.4684+4G>T) c.4756+4G>T (n.4756+4G>T) | gnomAD v4 |
| 3 | g.38554275C= | CA1358563021 | SCN5A | c.4810+4G= (n.4810+4G=) c.4813+4G= (n.4813+4G=) c.4759+4G= (n.4759+4G=) c.4651+4G= (n.4651+4G=) c.4714+100G= (n.4714+100G=) n.271+4G= c.4684+4G= (n.4684+4G=) c.4756+4G= (n.4756+4G=) | |
| 3 | g.38554275C>G | CA2577553272 | SCN5A | c.4810+4G>C (n.4810+4G>C) c.4813+4G>C (n.4813+4G>C) c.4759+4G>C (n.4759+4G>C) c.4651+4G>C (n.4651+4G>C) c.4714+100G>C (n.4714+100G>C) n.271+4G>C c.4684+4G>C (n.4684+4G>C) c.4756+4G>C (n.4756+4G>C) | |
| 3 | g.38554275C>T | CA72942383 | SCN5A | c.4810+4G>A (n.4810+4G>A) c.4813+4G>A (n.4813+4G>A) c.4759+4G>A (n.4759+4G>A) c.4651+4G>A (n.4651+4G>A) c.4714+100G>A (n.4714+100G>A) n.271+4G>A c.4684+4G>A (n.4684+4G>A) c.4756+4G>A (n.4756+4G>A) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38554276C= | CA1358563023 | SCN5A | c.4810+3G= (n.4810+3G=) c.4813+3G= (n.4813+3G=) c.4759+3G= (n.4759+3G=) c.4651+3G= (n.4651+3G=) c.4714+99G= (n.4714+99G=) n.271+3G= c.4684+3G= (n.4684+3G=) c.4756+3G= (n.4756+3G=) | |
| 3 | g.38554276C>T | CA542615554 | SCN5A | c.4810+3G>A (n.4810+3G>A) c.4813+3G>A (n.4813+3G>A) c.4759+3G>A (n.4759+3G>A) c.4651+3G>A (n.4651+3G>A) c.4714+99G>A (n.4714+99G>A) n.271+3G>A c.4684+3G>A (n.4684+3G>A) c.4756+3G>A (n.4756+3G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38554277A>C | CA352143564 | SCN5A | c.4810+2T>G (n.4810+2T>G) c.4813+2T>G (n.4813+2T>G) c.4759+2T>G (n.4759+2T>G) c.4651+2T>G (n.4651+2T>G) c.4714+98T>G (n.4714+98T>G) n.271+2T>G c.4684+2T>G (n.4684+2T>G) c.4756+2T>G (n.4756+2T>G) | |
| 3 | g.38554277A>G | CA352143565 | SCN5A | c.4810+2T>C (n.4810+2T>C) c.4813+2T>C (n.4813+2T>C) c.4759+2T>C (n.4759+2T>C) c.4651+2T>C (n.4651+2T>C) c.4714+98T>C (n.4714+98T>C) n.271+2T>C c.4684+2T>C (n.4684+2T>C) c.4756+2T>C (n.4756+2T>C) | |
| 3 | g.38554277A>T | CA352143566 | SCN5A | c.4810+2T>A (n.4810+2T>A) c.4813+2T>A (n.4813+2T>A) c.4759+2T>A (n.4759+2T>A) c.4651+2T>A (n.4651+2T>A) c.4714+98T>A (n.4714+98T>A) n.271+2T>A c.4684+2T>A (n.4684+2T>A) c.4756+2T>A (n.4756+2T>A) | |
| 3 | g.38554278C>A | CA352143567 | SCN5A | c.4810+1G>T (n.4810+1G>T) c.4813+1G>T (n.4813+1G>T) c.4759+1G>T (n.4759+1G>T) c.4651+1G>T (n.4651+1G>T) c.4714+97G>T (n.4714+97G>T) n.271+1G>T c.4684+1G>T (n.4684+1G>T) c.4756+1G>T (n.4756+1G>T) | |
| 3 | g.38554278C= | CA1358563025 | SCN5A | c.4810+1G= (n.4810+1G=) c.4813+1G= (n.4813+1G=) c.4759+1G= (n.4759+1G=) c.4651+1G= (n.4651+1G=) c.4714+97G= (n.4714+97G=) n.271+1G= c.4684+1G= (n.4684+1G=) c.4756+1G= (n.4756+1G=) | |
| 3 | g.38554278C>G | CA352143568 | SCN5A | c.4810+1G>C (n.4810+1G>C) c.4813+1G>C (n.4813+1G>C) c.4759+1G>C (n.4759+1G>C) c.4651+1G>C (n.4651+1G>C) c.4714+97G>C (n.4714+97G>C) n.271+1G>C c.4684+1G>C (n.4684+1G>C) c.4756+1G>C (n.4756+1G>C) | |
| 3 | g.38554278C>T | CA063664 | SCN5A | c.4810+1G>A (n.4810+1G>A) c.4813+1G>A (n.4813+1G>A) c.4759+1G>A (n.4759+1G>A) c.4651+1G>A (n.4651+1G>A) c.4714+97G>A (n.4714+97G>A) n.271+1G>A c.4684+1G>A (n.4684+1G>A) c.4756+1G>A (n.4756+1G>A) | dbSNP ExAC gnomAD v2 |
| 3 | g.38554279C>A | CA352143569 | SCN5A | c.4810G>T (p.Gly1604Cys) c.4813G>T (p.Gly1605Cys) c.4759G>T (p.Gly1587Cys) c.4651G>T (p.Gly1551Cys) c.4714+96G>T (n.4714+96G>T) n.271G>T c.4684G>T (p.Gly1562Cys) c.4756G>T (p.Gly1586Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38554279C= | CA1358563027 | SCN5A | c.4810G= (p.Gly1604=) c.4813G= (p.Gly1605=) c.4759G= (p.Gly1587=) c.4651G= (p.Gly1551=) c.4714+96G= (n.4714+96G=) n.271G= c.4684G= (p.Gly1562=) c.4756G= (p.Gly1586=) | |
| 3 | g.38554279C>G | CA018582 | SCN5A | c.4810G>C (p.Gly1604Arg) c.4813G>C (p.Gly1605Arg) c.4759G>C (p.Gly1587Arg) c.4651G>C (p.Gly1551Arg) c.4714+96G>C (n.4714+96G>C) n.271G>C c.4684G>C (p.Gly1562Arg) c.4756G>C (p.Gly1586Arg) | ClinVar dbSNP |
| 3 | g.38554279C>T | CA352143570 | SCN5A | c.4810G>A (p.Gly1604Ser) c.4813G>A (p.Gly1605Ser) c.4759G>A (p.Gly1587Ser) c.4651G>A (p.Gly1551Ser) c.4714+96G>A (n.4714+96G>A) n.271G>A c.4684G>A (p.Gly1562Ser) c.4756G>A (p.Gly1586Ser) | |
| 3 | g.38554280C>A | CA433134480 | SCN5A | c.4809G>T (p.Val1603=) c.4812G>T (p.Val1604=) c.4758G>T (p.Val1586=) c.4650G>T (p.Val1550=) c.4714+95G>T (n.4714+95G>T) n.270G>T c.4683G>T (p.Val1561=) c.4755G>T (p.Val1585=) | |
| 3 | g.38554280C>G | CA433134481 | SCN5A | c.4809G>C (p.Val1603=) c.4812G>C (p.Val1604=) c.4758G>C (p.Val1586=) c.4650G>C (p.Val1550=) c.4714+95G>C (n.4714+95G>C) n.270G>C c.4683G>C (p.Val1561=) c.4755G>C (p.Val1585=) | |
| 3 | g.38554280C>T | CA433134482 | SCN5A | c.4809G>A (p.Val1603=) c.4812G>A (p.Val1604=) c.4758G>A (p.Val1586=) c.4650G>A (p.Val1550=) c.4714+95G>A (n.4714+95G>A) n.270G>A c.4683G>A (p.Val1561=) c.4755G>A (p.Val1585=) | |
| 3 | g.38554281A>C | CA352143571 | SCN5A | c.4808T>G (p.Val1603Gly) c.4811T>G (p.Val1604Gly) c.4757T>G (p.Val1586Gly) c.4649T>G (p.Val1550Gly) c.4714+94T>G (n.4714+94T>G) n.269T>G c.4682T>G (p.Val1561Gly) c.4754T>G (p.Val1585Gly) | |
| 3 | g.38554281A>G | CA352143572 | SCN5A | c.4808T>C (p.Val1603Ala) c.4811T>C (p.Val1604Ala) c.4757T>C (p.Val1586Ala) c.4649T>C (p.Val1550Ala) c.4714+94T>C (n.4714+94T>C) n.269T>C c.4682T>C (p.Val1561Ala) c.4754T>C (p.Val1585Ala) | ClinVar |
| 3 | g.38554281A>T | CA352143573 | SCN5A | c.4808T>A (p.Val1603Glu) c.4811T>A (p.Val1604Glu) c.4757T>A (p.Val1586Glu) c.4649T>A (p.Val1550Glu) c.4714+94T>A (n.4714+94T>A) n.269T>A c.4682T>A (p.Val1561Glu) c.4754T>A (p.Val1585Glu) | |
| 3 | g.38554282C>A | CA352143574 | SCN5A | c.4807G>T (p.Val1603Leu) c.4810G>T (p.Val1604Leu) c.4756G>T (p.Val1586Leu) c.4648G>T (p.Val1550Leu) c.4714+93G>T (n.4714+93G>T) n.268G>T c.4681G>T (p.Val1561Leu) c.4753G>T (p.Val1585Leu) | |
| 3 | g.38554282C= | CA1358563029 | SCN5A | c.4807G= (p.Val1603=) c.4810G= (p.Val1604=) c.4756G= (p.Val1586=) c.4648G= (p.Val1550=) c.4714+93G= (n.4714+93G=) n.268G= c.4681G= (p.Val1561=) c.4753G= (p.Val1585=) | |
| 3 | g.38554282C>G | CA352143575 | SCN5A | c.4807G>C (p.Val1603Leu) c.4810G>C (p.Val1604Leu) c.4756G>C (p.Val1586Leu) c.4648G>C (p.Val1550Leu) c.4714+93G>C (n.4714+93G>C) n.268G>C c.4681G>C (p.Val1561Leu) c.4753G>C (p.Val1585Leu) | |
| 3 | g.38554282C>T | CA018577 | SCN5A | c.4807G>A (p.Val1603Met) c.4810G>A (p.Val1604Met) c.4756G>A (p.Val1586Met) c.4648G>A (p.Val1550Met) c.4714+93G>A (n.4714+93G>A) n.268G>A c.4681G>A (p.Val1561Met) c.4753G>A (p.Val1585Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38554283G>A | CA063642 | SCN5A | c.4806C>T (p.Ile1602=) c.4809C>T (p.Ile1603=) c.4755C>T (p.Ile1585=) c.4647C>T (p.Ile1549=) c.4714+92C>T (n.4714+92C>T) n.267C>T c.4680C>T (p.Ile1560=) c.4752C>T (p.Ile1584=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38554283G>C | CA352143576 | SCN5A | c.4806C>G (p.Ile1602Met) c.4809C>G (p.Ile1603Met) c.4755C>G (p.Ile1585Met) c.4647C>G (p.Ile1549Met) c.4714+92C>G (n.4714+92C>G) n.267C>G c.4680C>G (p.Ile1560Met) c.4752C>G (p.Ile1584Met) | |
| 3 | g.38554283G= | CA1358563034 | SCN5A | c.4806C= (p.Ile1602=) c.4809C= (p.Ile1603=) c.4755C= (p.Ile1585=) c.4647C= (p.Ile1549=) c.4714+92C= (n.4714+92C=) n.267C= c.4680C= (p.Ile1560=) c.4752C= (p.Ile1584=) | |
| 3 | g.38554283G>T | CA433134483 | SCN5A | c.4806C>A (p.Ile1602=) c.4809C>A (p.Ile1603=) c.4755C>A (p.Ile1585=) c.4647C>A (p.Ile1549=) c.4714+92C>A (n.4714+92C>A) n.267C>A c.4680C>A (p.Ile1560=) c.4752C>A (p.Ile1584=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38554284A>C | CA352143579 | SCN5A | c.4805T>G (p.Ile1602Ser) c.4808T>G (p.Ile1603Ser) c.4754T>G (p.Ile1585Ser) c.4646T>G (p.Ile1549Ser) c.4714+91T>G (n.4714+91T>G) n.266T>G c.4679T>G (p.Ile1560Ser) c.4751T>G (p.Ile1584Ser) | |
| 3 | g.38554284A>G | CA352143578 | SCN5A | c.4805T>C (p.Ile1602Thr) c.4808T>C (p.Ile1603Thr) c.4754T>C (p.Ile1585Thr) c.4646T>C (p.Ile1549Thr) c.4714+91T>C (n.4714+91T>C) n.266T>C c.4679T>C (p.Ile1560Thr) c.4751T>C (p.Ile1584Thr) | gnomAD v4 |
| 3 | g.38554284A>T | CA352143577 | SCN5A | c.4805T>A (p.Ile1602Asn) c.4808T>A (p.Ile1603Asn) c.4754T>A (p.Ile1585Asn) c.4646T>A (p.Ile1549Asn) c.4714+91T>A (n.4714+91T>A) n.266T>A c.4679T>A (p.Ile1560Asn) c.4751T>A (p.Ile1584Asn) | |
| 3 | g.38554285T>A | CA352143580 | SCN5A | c.4804A>T (p.Ile1602Phe) c.4807A>T (p.Ile1603Phe) c.4753A>T (p.Ile1585Phe) c.4645A>T (p.Ile1549Phe) c.4714+90A>T (n.4714+90A>T) n.265A>T c.4678A>T (p.Ile1560Phe) c.4750A>T (p.Ile1584Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38554285T>C | CA352143581 | SCN5A | c.4804A>G (p.Ile1602Val) c.4807A>G (p.Ile1603Val) c.4753A>G (p.Ile1585Val) c.4645A>G (p.Ile1549Val) c.4714+90A>G (n.4714+90A>G) n.265A>G c.4678A>G (p.Ile1560Val) c.4750A>G (p.Ile1584Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38554285T>G | CA352143582 | SCN5A | c.4804A>C (p.Ile1602Leu) c.4807A>C (p.Ile1603Leu) c.4753A>C (p.Ile1585Leu) c.4645A>C (p.Ile1549Leu) c.4714+90A>C (n.4714+90A>C) n.265A>C c.4678A>C (p.Ile1560Leu) c.4750A>C (p.Ile1584Leu) | |
| 3 | g.38554285T= | CA1358563039 | SCN5A | c.4804A= (p.Ile1602=) c.4807A= (p.Ile1603=) c.4753A= (p.Ile1585=) c.4645A= (p.Ile1549=) c.4714+90A= (n.4714+90A=) n.265A= c.4678A= (p.Ile1560=) c.4750A= (p.Ile1584=) | |
| 3 | g.38554286G>A | CA433134484 | SCN5A | c.4803C>T (p.Ser1601=) c.4806C>T (p.Ser1602=) c.4752C>T (p.Ser1584=) c.4644C>T (p.Ser1548=) c.4714+89C>T (n.4714+89C>T) n.264C>T c.4677C>T (p.Ser1559=) c.4749C>T (p.Ser1583=) | gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38554286G>C | CA433134486 | SCN5A | c.4803C>G (p.Ser1601=) c.4806C>G (p.Ser1602=) c.4752C>G (p.Ser1584=) c.4644C>G (p.Ser1548=) c.4714+89C>G (n.4714+89C>G) n.264C>G c.4677C>G (p.Ser1559=) c.4749C>G (p.Ser1583=) | |
| 3 | g.38554286G>T | CA433134485 | SCN5A | c.4803C>A (p.Ser1601=) c.4806C>A (p.Ser1602=) c.4752C>A (p.Ser1584=) c.4644C>A (p.Ser1548=) c.4714+89C>A (n.4714+89C>A) n.264C>A c.4677C>A (p.Ser1559=) c.4749C>A (p.Ser1583=) | |
| 3 | g.38554287G>A | CA352143583 | SCN5A | c.4802C>T (p.Ser1601Phe) c.4805C>T (p.Ser1602Phe) c.4751C>T (p.Ser1584Phe) c.4643C>T (p.Ser1548Phe) c.4714+88C>T (n.4714+88C>T) n.263C>T c.4676C>T (p.Ser1559Phe) c.4748C>T (p.Ser1583Phe) | gnomAD v4 |
| 3 | g.38554287G>C | CA352143584 | SCN5A | c.4802C>G (p.Ser1601Cys) c.4805C>G (p.Ser1602Cys) c.4751C>G (p.Ser1584Cys) c.4643C>G (p.Ser1548Cys) c.4714+88C>G (n.4714+88C>G) n.263C>G c.4676C>G (p.Ser1559Cys) c.4748C>G (p.Ser1583Cys) | |
| 3 | g.38554287G>T | CA352143585 | SCN5A | c.4802C>A (p.Ser1601Tyr) c.4805C>A (p.Ser1602Tyr) c.4751C>A (p.Ser1584Tyr) c.4643C>A (p.Ser1548Tyr) c.4714+88C>A (n.4714+88C>A) n.263C>A c.4676C>A (p.Ser1559Tyr) c.4748C>A (p.Ser1583Tyr) | |
| 3 | g.38554288A>C | CA352143586 | SCN5A | c.4801T>G (p.Ser1601Ala) c.4804T>G (p.Ser1602Ala) c.4750T>G (p.Ser1584Ala) c.4642T>G (p.Ser1548Ala) c.4714+87T>G (n.4714+87T>G) n.262T>G c.4675T>G (p.Ser1559Ala) c.4747T>G (p.Ser1583Ala) | |
| 3 | g.38554288A>G | CA352143587 | SCN5A | c.4801T>C (p.Ser1601Pro) c.4804T>C (p.Ser1602Pro) c.4750T>C (p.Ser1584Pro) c.4642T>C (p.Ser1548Pro) c.4714+87T>C (n.4714+87T>C) n.262T>C c.4675T>C (p.Ser1559Pro) c.4747T>C (p.Ser1583Pro) | |
| 3 | g.38554288A>T | CA352143588 | SCN5A | c.4801T>A (p.Ser1601Thr) c.4804T>A (p.Ser1602Thr) c.4750T>A (p.Ser1584Thr) c.4642T>A (p.Ser1548Thr) c.4714+87T>A (n.4714+87T>A) n.262T>A c.4675T>A (p.Ser1559Thr) c.4747T>A (p.Ser1583Thr) | |
| 3 | g.38554289G>A | CA433134488 | SCN5A | c.4800C>T (p.Leu1600=) c.4803C>T (p.Leu1601=) c.4749C>T (p.Leu1583=) c.4641C>T (p.Leu1547=) c.4714+86C>T (n.4714+86C>T) n.261C>T c.4674C>T (p.Leu1558=) c.4746C>T (p.Leu1582=) | |
| 3 | g.38554289G>C | CA433134489 | SCN5A | c.4800C>G (p.Leu1600=) c.4803C>G (p.Leu1601=) c.4749C>G (p.Leu1583=) c.4641C>G (p.Leu1547=) c.4714+86C>G (n.4714+86C>G) n.261C>G c.4674C>G (p.Leu1558=) c.4746C>G (p.Leu1582=) | |
| 3 | g.38554289G>T | CA433134490 | SCN5A | c.4800C>A (p.Leu1600=) c.4803C>A (p.Leu1601=) c.4749C>A (p.Leu1583=) c.4641C>A (p.Leu1547=) c.4714+86C>A (n.4714+86C>A) n.261C>A c.4674C>A (p.Leu1558=) c.4746C>A (p.Leu1582=) | |
| 3 | g.38554290A= | CA1358563043 | SCN5A | c.4799T= (p.Leu1600=) c.4802T= (p.Leu1601=) c.4748T= (p.Leu1583=) c.4640T= (p.Leu1547=) c.4714+85T= (n.4714+85T=) n.260T= c.4673T= (p.Leu1558=) c.4745T= (p.Leu1582=) | |
| 3 | g.38554290A>C | CA352143589 | SCN5A | c.4799T>G (p.Leu1600Arg) c.4802T>G (p.Leu1601Arg) c.4748T>G (p.Leu1583Arg) c.4640T>G (p.Leu1547Arg) c.4714+85T>G (n.4714+85T>G) n.260T>G c.4673T>G (p.Leu1558Arg) c.4745T>G (p.Leu1582Arg) | |
| 3 | g.38554290A>G | CA352143590 | SCN5A | c.4799T>C (p.Leu1600Pro) c.4802T>C (p.Leu1601Pro) c.4748T>C (p.Leu1583Pro) c.4640T>C (p.Leu1547Pro) c.4714+85T>C (n.4714+85T>C) n.260T>C c.4673T>C (p.Leu1558Pro) c.4745T>C (p.Leu1582Pro) | |
| 3 | g.38554290A>T | CA352143591 | SCN5A | c.4799T>A (p.Leu1600His) c.4802T>A (p.Leu1601His) c.4748T>A (p.Leu1583His) c.4640T>A (p.Leu1547His) c.4714+85T>A (n.4714+85T>A) n.260T>A c.4673T>A (p.Leu1558His) c.4745T>A (p.Leu1582His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38554291G>A | CA352143593 | SCN5A | c.4798C>T (p.Leu1600Phe) c.4801C>T (p.Leu1601Phe) c.4747C>T (p.Leu1583Phe) c.4639C>T (p.Leu1547Phe) c.4714+84C>T (n.4714+84C>T) n.259C>T c.4672C>T (p.Leu1558Phe) c.4744C>T (p.Leu1582Phe) | gnomAD v4 |
| 3 | g.38554291G>C | CA352143594 | SCN5A | c.4798C>G (p.Leu1600Val) c.4801C>G (p.Leu1601Val) c.4747C>G (p.Leu1583Val) c.4639C>G (p.Leu1547Val) c.4714+84C>G (n.4714+84C>G) n.259C>G c.4672C>G (p.Leu1558Val) c.4744C>G (p.Leu1582Val) | |
| 3 | g.38554291G>T | CA352143592 | SCN5A | c.4798C>A (p.Leu1600Ile) c.4801C>A (p.Leu1601Ile) c.4747C>A (p.Leu1583Ile) c.4639C>A (p.Leu1547Ile) c.4714+84C>A (n.4714+84C>A) n.259C>A c.4672C>A (p.Leu1558Ile) c.4744C>A (p.Leu1582Ile) | |
| 3 | g.38554292G>A | CA433134491 | SCN5A | c.4797C>T (p.Ile1599=) c.4800C>T (p.Ile1600=) c.4746C>T (p.Ile1582=) c.4638C>T (p.Ile1546=) c.4714+83C>T (n.4714+83C>T) n.258C>T c.4671C>T (p.Ile1557=) c.4743C>T (p.Ile1581=) | |
| 3 | g.38554292G>C | CA352143595 | SCN5A | c.4797C>G (p.Ile1599Met) c.4800C>G (p.Ile1600Met) c.4746C>G (p.Ile1582Met) c.4638C>G (p.Ile1546Met) c.4714+83C>G (n.4714+83C>G) n.258C>G c.4671C>G (p.Ile1557Met) c.4743C>G (p.Ile1581Met) | |
| 3 | g.38554292G>T | CA433134492 | SCN5A | c.4797C>A (p.Ile1599=) c.4800C>A (p.Ile1600=) c.4746C>A (p.Ile1582=) c.4638C>A (p.Ile1546=) c.4714+83C>A (n.4714+83C>A) n.258C>A c.4671C>A (p.Ile1557=) c.4743C>A (p.Ile1581=) | |
| 3 | g.38554292_38554293insT | CA2665110222 | SCN5A | c.4796_4797insA (p.Leu1600ProfsTer?) c.4799_4800insA (p.Leu1601ProfsTer?) c.4745_4746insA (p.Leu1583ProfsTer?) c.4637_4638insA (p.Leu1547ProfsTer?) c.4714+82_4714+83insA (n.4714+82_4714+83insA) n.257_258insA c.4670_4671insA (p.Leu1558ProfsTer?) c.4742_4743insA (p.Leu1582ProfsTer?) | gnomAD v4 |
| 3 | g.38554293A>C | CA352143596 | SCN5A | c.4796T>G (p.Ile1599Ser) c.4799T>G (p.Ile1600Ser) c.4745T>G (p.Ile1582Ser) c.4637T>G (p.Ile1546Ser) c.4714+82T>G (n.4714+82T>G) n.257T>G c.4670T>G (p.Ile1557Ser) c.4742T>G (p.Ile1581Ser) | |
| 3 | g.38554293A>G | CA352143597 | SCN5A | c.4796T>C (p.Ile1599Thr) c.4799T>C (p.Ile1600Thr) c.4745T>C (p.Ile1582Thr) c.4637T>C (p.Ile1546Thr) c.4714+82T>C (n.4714+82T>C) n.257T>C c.4670T>C (p.Ile1557Thr) c.4742T>C (p.Ile1581Thr) | ClinVar dbSNP |
| 3 | g.38554293A>T | CA352143598 | SCN5A | c.4796T>A (p.Ile1599Asn) c.4799T>A (p.Ile1600Asn) c.4745T>A (p.Ile1582Asn) c.4637T>A (p.Ile1546Asn) c.4714+82T>A (n.4714+82T>A) n.257T>A c.4670T>A (p.Ile1557Asn) c.4742T>A (p.Ile1581Asn) | |
| 3 | g.38554294T>A | CA352143601 | SCN5A | c.4795A>T (p.Ile1599Phe) c.4798A>T (p.Ile1600Phe) c.4744A>T (p.Ile1582Phe) c.4636A>T (p.Ile1546Phe) c.4714+81A>T (n.4714+81A>T) n.256A>T c.4669A>T (p.Ile1557Phe) c.4741A>T (p.Ile1581Phe) | ClinVar dbSNP |
| 3 | g.38554294T>C | CA352143600 | SCN5A | c.4795A>G (p.Ile1599Val) c.4798A>G (p.Ile1600Val) c.4744A>G (p.Ile1582Val) c.4636A>G (p.Ile1546Val) c.4714+81A>G (n.4714+81A>G) n.256A>G c.4669A>G (p.Ile1557Val) c.4741A>G (p.Ile1581Val) | |
| 3 | g.38554294T>G | CA352143599 | SCN5A | c.4795A>C (p.Ile1599Leu) c.4798A>C (p.Ile1600Leu) c.4744A>C (p.Ile1582Leu) c.4636A>C (p.Ile1546Leu) c.4714+81A>C (n.4714+81A>C) n.256A>C c.4669A>C (p.Ile1557Leu) c.4741A>C (p.Ile1581Leu) | |
| 3 | g.38554295G>A | CA433134493 | SCN5A | c.4794C>T (p.Val1598=) c.4797C>T (p.Val1599=) c.4743C>T (p.Val1581=) c.4635C>T (p.Val1545=) c.4714+80C>T (n.4714+80C>T) n.255C>T c.4668C>T (p.Val1556=) c.4740C>T (p.Val1580=) | |
| 3 | g.38554295G>C | CA433134494 | SCN5A | c.4794C>G (p.Val1598=) c.4797C>G (p.Val1599=) c.4743C>G (p.Val1581=) c.4635C>G (p.Val1545=) c.4714+80C>G (n.4714+80C>G) n.255C>G c.4668C>G (p.Val1556=) c.4740C>G (p.Val1580=) | |
| 3 | g.38554295G>T | CA433134495 | SCN5A | c.4794C>A (p.Val1598=) c.4797C>A (p.Val1599=) c.4743C>A (p.Val1581=) c.4635C>A (p.Val1545=) c.4714+80C>A (n.4714+80C>A) n.255C>A c.4668C>A (p.Val1556=) c.4740C>A (p.Val1580=) | |
| 3 | g.38554296A>C | CA352143602 | SCN5A | c.4793T>G (p.Val1598Gly) c.4796T>G (p.Val1599Gly) c.4742T>G (p.Val1581Gly) c.4634T>G (p.Val1545Gly) c.4714+79T>G (n.4714+79T>G) n.254T>G c.4667T>G (p.Val1556Gly) c.4739T>G (p.Val1580Gly) | |
| 3 | g.38554296A>G | CA352143603 | SCN5A | c.4793T>C (p.Val1598Ala) c.4796T>C (p.Val1599Ala) c.4742T>C (p.Val1581Ala) c.4634T>C (p.Val1545Ala) c.4714+79T>C (n.4714+79T>C) n.254T>C c.4667T>C (p.Val1556Ala) c.4739T>C (p.Val1580Ala) | |
| 3 | g.38554296A>T | CA352143604 | SCN5A | c.4793T>A (p.Val1598Asp) c.4796T>A (p.Val1599Asp) c.4742T>A (p.Val1581Asp) c.4634T>A (p.Val1545Asp) c.4714+79T>A (n.4714+79T>A) n.254T>A c.4667T>A (p.Val1556Asp) c.4739T>A (p.Val1580Asp) | |
| 3 | g.38554297C>A | CA352143605 | SCN5A | c.4792G>T (p.Val1598Phe) c.4795G>T (p.Val1599Phe) c.4741G>T (p.Val1581Phe) c.4633G>T (p.Val1545Phe) c.4714+78G>T (n.4714+78G>T) n.253G>T c.4666G>T (p.Val1556Phe) c.4738G>T (p.Val1580Phe) | |
| 3 | g.38554297C>G | CA352143606 | SCN5A | c.4792G>C (p.Val1598Leu) c.4795G>C (p.Val1599Leu) c.4741G>C (p.Val1581Leu) c.4633G>C (p.Val1545Leu) c.4714+78G>C (n.4714+78G>C) n.253G>C c.4666G>C (p.Val1556Leu) c.4738G>C (p.Val1580Leu) | gnomAD v4 |
| 3 | g.38554297C>T | CA352143607 | SCN5A | c.4792G>A (p.Val1598Ile) c.4795G>A (p.Val1599Ile) c.4741G>A (p.Val1581Ile) c.4633G>A (p.Val1545Ile) c.4714+78G>A (n.4714+78G>A) n.253G>A c.4666G>A (p.Val1556Ile) c.4738G>A (p.Val1580Ile) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38554298A>C | CA433134499 | SCN5A | c.4791T>G (p.Val1597=) c.4794T>G (p.Val1598=) c.4740T>G (p.Val1580=) c.4632T>G (p.Val1544=) c.4714+77T>G (n.4714+77T>G) n.252T>G c.4665T>G (p.Val1555=) c.4737T>G (p.Val1579=) | |
| 3 | g.38554298A>G | CA433134501 | SCN5A | c.4791T>C (p.Val1597=) c.4794T>C (p.Val1598=) c.4740T>C (p.Val1580=) c.4632T>C (p.Val1544=) c.4714+77T>C (n.4714+77T>C) n.252T>C c.4665T>C (p.Val1555=) c.4737T>C (p.Val1579=) | gnomAD v4 |
| 3 | g.38554298A>T | CA433134502 | SCN5A | c.4791T>A (p.Val1597=) c.4794T>A (p.Val1598=) c.4740T>A (p.Val1580=) c.4632T>A (p.Val1544=) c.4714+77T>A (n.4714+77T>A) n.252T>A c.4665T>A (p.Val1555=) c.4737T>A (p.Val1579=) | |
| 3 | g.38554299A= | CA1358563045 | SCN5A | c.4790T= (p.Val1597=) c.4793T= (p.Val1598=) c.4739T= (p.Val1580=) c.4631T= (p.Val1544=) c.4714+76T= (n.4714+76T=) n.251T= c.4664T= (p.Val1555=) c.4736T= (p.Val1579=) | |
| 3 | g.38554299A>C | CA352143608 | SCN5A | c.4790T>G (p.Val1597Gly) c.4793T>G (p.Val1598Gly) c.4739T>G (p.Val1580Gly) c.4631T>G (p.Val1544Gly) c.4714+76T>G (n.4714+76T>G) n.251T>G c.4664T>G (p.Val1555Gly) c.4736T>G (p.Val1579Gly) | |
| 3 | g.38554299A>G | CA063636 | SCN5A | c.4790T>C (p.Val1597Ala) c.4793T>C (p.Val1598Ala) c.4739T>C (p.Val1580Ala) c.4631T>C (p.Val1544Ala) c.4714+76T>C (n.4714+76T>C) n.251T>C c.4664T>C (p.Val1555Ala) c.4736T>C (p.Val1579Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38554299A>T | CA352143609 | SCN5A | c.4790T>A (p.Val1597Asp) c.4793T>A (p.Val1598Asp) c.4739T>A (p.Val1580Asp) c.4631T>A (p.Val1544Asp) c.4714+76T>A (n.4714+76T>A) n.251T>A c.4664T>A (p.Val1555Asp) c.4736T>A (p.Val1579Asp) | |
| 3 | g.38554300C>A | CA352143610 | SCN5A | c.4789G>T (p.Val1597Phe) c.4792G>T (p.Val1598Phe) c.4738G>T (p.Val1580Phe) c.4630G>T (p.Val1544Phe) c.4714+75G>T (n.4714+75G>T) n.250G>T c.4663G>T (p.Val1555Phe) c.4735G>T (p.Val1579Phe) | |
| 3 | g.38554300C>G | CA352143612 | SCN5A | c.4789G>C (p.Val1597Leu) c.4792G>C (p.Val1598Leu) c.4738G>C (p.Val1580Leu) c.4630G>C (p.Val1544Leu) c.4714+75G>C (n.4714+75G>C) n.250G>C c.4663G>C (p.Val1555Leu) c.4735G>C (p.Val1579Leu) | |
| 3 | g.38554300C>T | CA352143611 | SCN5A | c.4789G>A (p.Val1597Ile) c.4792G>A (p.Val1598Ile) c.4738G>A (p.Val1580Ile) c.4630G>A (p.Val1544Ile) c.4714+75G>A (n.4714+75G>A) n.250G>A c.4663G>A (p.Val1555Ile) c.4735G>A (p.Val1579Ile) | |
| 3 | g.38554301C>A | CA433134507 | SCN5A | c.4788G>T (p.Val1596=) c.4791G>T (p.Val1597=) c.4737G>T (p.Val1579=) c.4629G>T (p.Val1543=) c.4714+74G>T (n.4714+74G>T) n.249G>T c.4662G>T (p.Val1554=) c.4734G>T (p.Val1578=) | |
| 3 | g.38554301C>G | CA433134504 | SCN5A | c.4788G>C (p.Val1596=) c.4791G>C (p.Val1597=) c.4737G>C (p.Val1579=) c.4629G>C (p.Val1543=) c.4714+74G>C (n.4714+74G>C) n.249G>C c.4662G>C (p.Val1554=) c.4734G>C (p.Val1578=) | |
| 3 | g.38554301C>T | CA433134506 | SCN5A | c.4788G>A (p.Val1596=) c.4791G>A (p.Val1597=) c.4737G>A (p.Val1579=) c.4629G>A (p.Val1543=) c.4714+74G>A (n.4714+74G>A) n.249G>A c.4662G>A (p.Val1554=) c.4734G>A (p.Val1578=) | gnomAD v4 |
| 3 | g.38554302A= | CA1358563047 | SCN5A | c.4787T= (p.Val1596=) c.4790T= (p.Val1597=) c.4736T= (p.Val1579=) c.4628T= (p.Val1543=) c.4714+73T= (n.4714+73T=) n.248T= c.4661T= (p.Val1554=) c.4733T= (p.Val1578=) | |
| 3 | g.38554302A>C | CA352143613 | SCN5A | c.4787T>G (p.Val1596Gly) c.4790T>G (p.Val1597Gly) c.4736T>G (p.Val1579Gly) c.4628T>G (p.Val1543Gly) c.4714+73T>G (n.4714+73T>G) n.248T>G c.4661T>G (p.Val1554Gly) c.4733T>G (p.Val1578Gly) | |
| 3 | g.38554302A>G | CA72942393 | SCN5A | c.4787T>C (p.Val1596Ala) c.4790T>C (p.Val1597Ala) c.4736T>C (p.Val1579Ala) c.4628T>C (p.Val1543Ala) c.4714+73T>C (n.4714+73T>C) n.248T>C c.4661T>C (p.Val1554Ala) c.4733T>C (p.Val1578Ala) | ClinVar dbSNP |
| 3 | g.38554302A>T | CA352143614 | SCN5A | c.4787T>A (p.Val1596Glu) c.4790T>A (p.Val1597Glu) c.4736T>A (p.Val1579Glu) c.4628T>A (p.Val1543Glu) c.4714+73T>A (n.4714+73T>A) n.248T>A c.4661T>A (p.Val1554Glu) c.4733T>A (p.Val1578Glu) | |
| 3 | g.38554303C>A | CA352143615 | SCN5A | c.4786G>T (p.Val1596Leu) c.4789G>T (p.Val1597Leu) c.4735G>T (p.Val1579Leu) c.4627G>T (p.Val1543Leu) c.4714+72G>T (n.4714+72G>T) n.247G>T c.4660G>T (p.Val1554Leu) c.4732G>T (p.Val1578Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38554303C= | CA1358563050 | SCN5A | c.4786G= (p.Val1596=) c.4789G= (p.Val1597=) c.4735G= (p.Val1579=) c.4627G= (p.Val1543=) c.4714+72G= (n.4714+72G=) n.247G= c.4660G= (p.Val1554=) c.4732G= (p.Val1578=) | |
| 3 | g.38554303C>G | CA352143616 | SCN5A | c.4786G>C (p.Val1596Leu) c.4789G>C (p.Val1597Leu) c.4735G>C (p.Val1579Leu) c.4627G>C (p.Val1543Leu) c.4714+72G>C (n.4714+72G>C) n.247G>C c.4660G>C (p.Val1554Leu) c.4732G>C (p.Val1578Leu) | dbSNP |
| 3 | g.38554303C>T | CA018571 | SCN5A | c.4786G>A (p.Val1596Met) c.4789G>A (p.Val1597Met) c.4735G>A (p.Val1579Met) c.4627G>A (p.Val1543Met) c.4714+72G>A (n.4714+72G>A) n.247G>A c.4660G>A (p.Val1554Met) c.4732G>A (p.Val1578Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38554304G>A | CA063620 | SCN5A | c.4785C>T (p.Phe1595=) c.4788C>T (p.Phe1596=) c.4734C>T (p.Phe1578=) c.4626C>T (p.Phe1542=) c.4714+71C>T (n.4714+71C>T) n.246C>T c.4659C>T (p.Phe1553=) c.4731C>T (p.Phe1577=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38554304G>C | CA352143617 | SCN5A | c.4785C>G (p.Phe1595Leu) c.4788C>G (p.Phe1596Leu) c.4734C>G (p.Phe1578Leu) c.4626C>G (p.Phe1542Leu) c.4714+71C>G (n.4714+71C>G) n.246C>G c.4659C>G (p.Phe1553Leu) c.4731C>G (p.Phe1577Leu) | |
| 3 | g.38554304G= | CA1358563058 | SCN5A | c.4785C= (p.Phe1595=) c.4788C= (p.Phe1596=) c.4734C= (p.Phe1578=) c.4626C= (p.Phe1542=) c.4714+71C= (n.4714+71C=) n.246C= c.4659C= (p.Phe1553=) c.4731C= (p.Phe1577=) | |
| 3 | g.38554304G>T | CA352143618 | SCN5A | c.4785C>A (p.Phe1595Leu) c.4788C>A (p.Phe1596Leu) c.4734C>A (p.Phe1578Leu) c.4626C>A (p.Phe1542Leu) c.4714+71C>A (n.4714+71C>A) n.246C>A c.4659C>A (p.Phe1553Leu) c.4731C>A (p.Phe1577Leu) | gnomAD v4 |
| 3 | g.38554305A= | CA1358563067 | SCN5A | c.4784T= (p.Phe1595=) c.4787T= (p.Phe1596=) c.4733T= (p.Phe1578=) c.4625T= (p.Phe1542=) c.4714+70T= (n.4714+70T=) n.245T= c.4658T= (p.Phe1553=) c.4730T= (p.Phe1577=) | |
| 3 | g.38554305A>C | CA063609 | SCN5A | c.4784T>G (p.Phe1595Cys) c.4787T>G (p.Phe1596Cys) c.4733T>G (p.Phe1578Cys) c.4625T>G (p.Phe1542Cys) c.4714+70T>G (n.4714+70T>G) n.245T>G c.4658T>G (p.Phe1553Cys) c.4730T>G (p.Phe1577Cys) | dbSNP ExAC gnomAD v2 |
| 3 | g.38554305A>G | CA352143619 | SCN5A | c.4784T>C (p.Phe1595Ser) c.4787T>C (p.Phe1596Ser) c.4733T>C (p.Phe1578Ser) c.4625T>C (p.Phe1542Ser) c.4714+70T>C (n.4714+70T>C) n.245T>C c.4658T>C (p.Phe1553Ser) c.4730T>C (p.Phe1577Ser) | |
| 3 | g.38554305A>T | CA352143620 | SCN5A | c.4784T>A (p.Phe1595Tyr) c.4787T>A (p.Phe1596Tyr) c.4733T>A (p.Phe1578Tyr) c.4625T>A (p.Phe1542Tyr) c.4714+70T>A (n.4714+70T>A) n.245T>A c.4658T>A (p.Phe1553Tyr) c.4730T>A (p.Phe1577Tyr) | |
| 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) |