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.38556435A>G | CA2499216730 | SCN5A | c.4434+6T>C (n.4434+6T>C) c.4437+6T>C (n.4437+6T>C) c.4383+6T>C (n.4383+6T>C) c.4275+6T>C (n.4275+6T>C) c.4308+6T>C (n.4308+6T>C) c.4380+6T>C (n.4380+6T>C) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38556436C= | CA1358563399 | SCN5A | c.4434+5G= (n.4434+5G=) c.4437+5G= (n.4437+5G=) c.4383+5G= (n.4383+5G=) c.4275+5G= (n.4275+5G=) c.4308+5G= (n.4308+5G=) c.4380+5G= (n.4380+5G=) | |
| 3 | g.38556436C>T | CA16604562 | SCN5A | c.4434+5G>A (n.4434+5G>A) c.4437+5G>A (n.4437+5G>A) c.4383+5G>A (n.4383+5G>A) c.4275+5G>A (n.4275+5G>A) c.4308+5G>A (n.4308+5G>A) c.4380+5G>A (n.4380+5G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38556437G>A | CA063195 | SCN5A | c.4434+4C>T (n.4434+4C>T) c.4437+4C>T (n.4437+4C>T) c.4383+4C>T (n.4383+4C>T) c.4275+4C>T (n.4275+4C>T) c.4308+4C>T (n.4308+4C>T) c.4380+4C>T (n.4380+4C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38556437G>C | CA063192 | SCN5A | c.4434+4C>G (n.4434+4C>G) c.4437+4C>G (n.4437+4C>G) c.4383+4C>G (n.4383+4C>G) c.4275+4C>G (n.4275+4C>G) c.4308+4C>G (n.4308+4C>G) c.4380+4C>G (n.4380+4C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38556437G= | CA1358563403 | SCN5A | c.4434+4C= (n.4434+4C=) c.4437+4C= (n.4437+4C=) c.4383+4C= (n.4383+4C=) c.4275+4C= (n.4275+4C=) c.4308+4C= (n.4308+4C=) c.4380+4C= (n.4380+4C=) | |
| 3 | g.38556437G>T | CA2665110972 | SCN5A | c.4434+4C>A (n.4434+4C>A) c.4437+4C>A (n.4437+4C>A) c.4383+4C>A (n.4383+4C>A) c.4275+4C>A (n.4275+4C>A) c.4308+4C>A (n.4308+4C>A) c.4380+4C>A (n.4380+4C>A) | gnomAD v4 |
| 3 | g.38556438T>C | CA542270077 | SCN5A | c.4434+3A>G (n.4434+3A>G) c.4437+3A>G (n.4437+3A>G) c.4383+3A>G (n.4383+3A>G) c.4275+3A>G (n.4275+3A>G) c.4308+3A>G (n.4308+3A>G) c.4380+3A>G (n.4380+3A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38556438T= | CA1358563404 | SCN5A | c.4434+3A= (n.4434+3A=) c.4437+3A= (n.4437+3A=) c.4383+3A= (n.4383+3A=) c.4275+3A= (n.4275+3A=) c.4308+3A= (n.4308+3A=) c.4380+3A= (n.4380+3A=) | |
| 3 | g.38556439A>C | CA352145198 | SCN5A | c.4434+2T>G (n.4434+2T>G) c.4437+2T>G (n.4437+2T>G) c.4383+2T>G (n.4383+2T>G) c.4275+2T>G (n.4275+2T>G) c.4308+2T>G (n.4308+2T>G) c.4380+2T>G (n.4380+2T>G) | |
| 3 | g.38556439A>G | CA352145199 | SCN5A | c.4434+2T>C (n.4434+2T>C) c.4437+2T>C (n.4437+2T>C) c.4383+2T>C (n.4383+2T>C) c.4275+2T>C (n.4275+2T>C) c.4308+2T>C (n.4308+2T>C) c.4380+2T>C (n.4380+2T>C) | |
| 3 | g.38556439A>T | CA352145200 | SCN5A | c.4434+2T>A (n.4434+2T>A) c.4437+2T>A (n.4437+2T>A) c.4383+2T>A (n.4383+2T>A) c.4275+2T>A (n.4275+2T>A) c.4308+2T>A (n.4308+2T>A) c.4380+2T>A (n.4380+2T>A) | |
| 3 | g.38556440T>A | CA352145201 | SCN5A | c.4434+1A>T (n.4434+1A>T) c.4437+1A>T (n.4437+1A>T) c.4383+1A>T (n.4383+1A>T) c.4275+1A>T (n.4275+1A>T) c.4308+1A>T (n.4308+1A>T) c.4380+1A>T (n.4380+1A>T) | dbSNP |
| 3 | g.38556440T>C | CA352145202 | SCN5A | c.4434+1A>G (n.4434+1A>G) c.4437+1A>G (n.4437+1A>G) c.4383+1A>G (n.4383+1A>G) c.4275+1A>G (n.4275+1A>G) c.4308+1A>G (n.4308+1A>G) c.4380+1A>G (n.4380+1A>G) | |
| 3 | g.38556440T>G | CA352145203 | SCN5A | c.4434+1A>C (n.4434+1A>C) c.4437+1A>C (n.4437+1A>C) c.4383+1A>C (n.4383+1A>C) c.4275+1A>C (n.4275+1A>C) c.4308+1A>C (n.4308+1A>C) c.4380+1A>C (n.4380+1A>C) | |
| 3 | g.38556440T= | CA1358563406 | SCN5A | c.4434+1A= (n.4434+1A=) c.4437+1A= (n.4437+1A=) c.4383+1A= (n.4383+1A=) c.4275+1A= (n.4275+1A=) c.4308+1A= (n.4308+1A=) c.4380+1A= (n.4380+1A=) | |
| 3 | g.38556441_38556443del | CA2586965719 | SCN5A | c.4433_4434+1del c.4436_4437+1del c.4382_4383+1del c.4274_4275+1del c.4307_4308+1del c.4379_4380+1del | |
| 3 | g.38556441C>A | CA352145204 | SCN5A | c.4434G>T (p.Lys1478Asn) c.4437G>T (p.Lys1479Asn) c.4383G>T (p.Lys1461Asn) c.4275G>T (p.Lys1425Asn) c.4308G>T (p.Lys1436Asn) c.4380G>T (p.Lys1460Asn) | gnomAD v4 |
| 3 | g.38556441C>G | CA352145205 | SCN5A | c.4434G>C (p.Lys1478Asn) c.4437G>C (p.Lys1479Asn) c.4383G>C (p.Lys1461Asn) c.4275G>C (p.Lys1425Asn) c.4308G>C (p.Lys1436Asn) c.4380G>C (p.Lys1460Asn) | |
| 3 | g.38556441C>T | CA433136005 | SCN5A | c.4434G>A (p.Lys1478=) c.4437G>A (p.Lys1479=) c.4383G>A (p.Lys1461=) c.4275G>A (p.Lys1425=) c.4308G>A (p.Lys1436=) c.4380G>A (p.Lys1460=) | |
| 3 | g.38556442T>A | CA352145208 | SCN5A | c.4433A>T (p.Lys1478Met) c.4436A>T (p.Lys1479Met) c.4382A>T (p.Lys1461Met) c.4274A>T (p.Lys1425Met) c.4307A>T (p.Lys1436Met) c.4379A>T (p.Lys1460Met) | |
| 3 | g.38556442T>C | CA352145207 | SCN5A | c.4433A>G (p.Lys1478Arg) c.4436A>G (p.Lys1479Arg) c.4382A>G (p.Lys1461Arg) c.4274A>G (p.Lys1425Arg) c.4307A>G (p.Lys1436Arg) c.4379A>G (p.Lys1460Arg) | |
| 3 | g.38556442T>G | CA352145206 | SCN5A | c.4433A>C (p.Lys1478Thr) c.4436A>C (p.Lys1479Thr) c.4382A>C (p.Lys1461Thr) c.4274A>C (p.Lys1425Thr) c.4307A>C (p.Lys1436Thr) c.4379A>C (p.Lys1460Thr) | |
| 3 | g.38556446del | CA2665110973 | SCN5A | c.4433del (p.Lys1478SerfsTer2) c.4436del (p.Lys1479SerfsTer2) c.4382del (p.Lys1461SerfsTer2) c.4274del (p.Lys1425SerfsTer2) c.4307del (p.Lys1436SerfsTer2) c.4379del (p.Lys1460SerfsTer2) | gnomAD v4 |
| 3 | g.38556443T>A | CA352145209 | SCN5A | c.4432A>T (p.Lys1478Ter) c.4435A>T (p.Lys1479Ter) c.4381A>T (p.Lys1461Ter) c.4273A>T (p.Lys1425Ter) c.4306A>T (p.Lys1436Ter) c.4378A>T (p.Lys1460Ter) | dbSNP |
| 3 | g.38556443T>C | CA352145210 | SCN5A | c.4432A>G (p.Lys1478Glu) c.4435A>G (p.Lys1479Glu) c.4381A>G (p.Lys1461Glu) c.4273A>G (p.Lys1425Glu) c.4306A>G (p.Lys1436Glu) c.4378A>G (p.Lys1460Glu) | |
| 3 | g.38556443T>G | CA352145211 | SCN5A | c.4432A>C (p.Lys1478Gln) c.4435A>C (p.Lys1479Gln) c.4381A>C (p.Lys1461Gln) c.4273A>C (p.Lys1425Gln) c.4306A>C (p.Lys1436Gln) c.4378A>C (p.Lys1460Gln) | |
| 3 | g.38556443T= | CA1358563408 | SCN5A | c.4432A= (p.Lys1478=) c.4435A= (p.Lys1479=) c.4381A= (p.Lys1461=) c.4273A= (p.Lys1425=) c.4306A= (p.Lys1436=) c.4378A= (p.Lys1460=) | |
| 3 | g.38556444T>A | CA352145212 | SCN5A | c.4431A>T (p.Lys1477Asn) c.4434A>T (p.Lys1478Asn) c.4380A>T (p.Lys1460Asn) c.4272A>T (p.Lys1424Asn) c.4305A>T (p.Lys1435Asn) c.4377A>T (p.Lys1459Asn) | |
| 3 | g.38556444T>C | CA433136007 | SCN5A | c.4431A>G (p.Lys1477=) c.4434A>G (p.Lys1478=) c.4380A>G (p.Lys1460=) c.4272A>G (p.Lys1424=) c.4305A>G (p.Lys1435=) c.4377A>G (p.Lys1459=) | |
| 3 | g.38556444T>G | CA352145213 | SCN5A | c.4431A>C (p.Lys1477Asn) c.4434A>C (p.Lys1478Asn) c.4380A>C (p.Lys1460Asn) c.4272A>C (p.Lys1424Asn) c.4305A>C (p.Lys1435Asn) c.4377A>C (p.Lys1459Asn) | |
| 3 | g.38556445T>A | CA352145214 | SCN5A | c.4430A>T (p.Lys1477Ile) c.4433A>T (p.Lys1478Ile) c.4379A>T (p.Lys1460Ile) c.4271A>T (p.Lys1424Ile) c.4304A>T (p.Lys1435Ile) c.4376A>T (p.Lys1459Ile) | |
| 3 | g.38556445T>C | CA352145215 | SCN5A | c.4430A>G (p.Lys1477Arg) c.4433A>G (p.Lys1478Arg) c.4379A>G (p.Lys1460Arg) c.4271A>G (p.Lys1424Arg) c.4304A>G (p.Lys1435Arg) c.4376A>G (p.Lys1459Arg) | |
| 3 | g.38556445T>G | CA352145216 | SCN5A | c.4430A>C (p.Lys1477Thr) c.4433A>C (p.Lys1478Thr) c.4379A>C (p.Lys1460Thr) c.4271A>C (p.Lys1424Thr) c.4304A>C (p.Lys1435Thr) c.4376A>C (p.Lys1459Thr) | |
| 3 | g.38556446T>A | CA352145217 | SCN5A | c.4429A>T (p.Lys1477Ter) c.4432A>T (p.Lys1478Ter) c.4378A>T (p.Lys1460Ter) c.4270A>T (p.Lys1424Ter) c.4303A>T (p.Lys1435Ter) c.4375A>T (p.Lys1459Ter) | ClinVar dbSNP |
| 3 | g.38556446T>C | CA352145218 | SCN5A | c.4429A>G (p.Lys1477Glu) c.4432A>G (p.Lys1478Glu) c.4378A>G (p.Lys1460Glu) c.4270A>G (p.Lys1424Glu) c.4303A>G (p.Lys1435Glu) c.4375A>G (p.Lys1459Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38556446T>G | CA352145219 | SCN5A | c.4429A>C (p.Lys1477Gln) c.4432A>C (p.Lys1478Gln) c.4378A>C (p.Lys1460Gln) c.4270A>C (p.Lys1424Gln) c.4303A>C (p.Lys1435Gln) c.4375A>C (p.Lys1459Gln) | |
| 3 | g.38556446T= | CA1358563409 | SCN5A | c.4429A= (p.Lys1477=) c.4432A= (p.Lys1478=) c.4378A= (p.Lys1460=) c.4270A= (p.Lys1424=) c.4303A= (p.Lys1435=) c.4375A= (p.Lys1459=) | |
| 3 | g.38556447C>A | CA352145220 | SCN5A | c.4428G>T (p.Lys1476Asn) c.4431G>T (p.Lys1477Asn) c.4377G>T (p.Lys1459Asn) c.4269G>T (p.Lys1423Asn) c.4302G>T (p.Lys1434Asn) c.4374G>T (p.Lys1458Asn) | |
| 3 | g.38556447C>G | CA352145221 | SCN5A | c.4428G>C (p.Lys1476Asn) c.4431G>C (p.Lys1477Asn) c.4377G>C (p.Lys1459Asn) c.4269G>C (p.Lys1423Asn) c.4302G>C (p.Lys1434Asn) c.4374G>C (p.Lys1458Asn) | gnomAD v4 |
| 3 | g.38556447C>T | CA433136008 | SCN5A | c.4428G>A (p.Lys1476=) c.4431G>A (p.Lys1477=) c.4377G>A (p.Lys1459=) c.4269G>A (p.Lys1423=) c.4302G>A (p.Lys1434=) c.4374G>A (p.Lys1458=) | |
| 3 | g.38556448T>A | CA352145224 | SCN5A | c.4427A>T (p.Lys1476Met) c.4430A>T (p.Lys1477Met) c.4376A>T (p.Lys1459Met) c.4268A>T (p.Lys1423Met) c.4301A>T (p.Lys1434Met) c.4373A>T (p.Lys1458Met) | |
| 3 | g.38556448T>C | CA352145223 | SCN5A | c.4427A>G (p.Lys1476Arg) c.4430A>G (p.Lys1477Arg) c.4376A>G (p.Lys1459Arg) c.4268A>G (p.Lys1423Arg) c.4301A>G (p.Lys1434Arg) c.4373A>G (p.Lys1458Arg) | |
| 3 | g.38556448T>G | CA352145222 | SCN5A | c.4427A>C (p.Lys1476Thr) c.4430A>C (p.Lys1477Thr) c.4376A>C (p.Lys1459Thr) c.4268A>C (p.Lys1423Thr) c.4301A>C (p.Lys1434Thr) c.4373A>C (p.Lys1458Thr) | ClinVar |
| 3 | g.38556449del | CA2755901503 | SCN5A | c.4427del (p.Lys1476ArgfsTer4) c.4430del (p.Lys1477ArgfsTer4) c.4376del (p.Lys1459ArgfsTer4) c.4268del (p.Lys1423ArgfsTer4) c.4301del (p.Lys1434ArgfsTer4) c.4373del (p.Lys1458ArgfsTer4) | |
| 3 | g.38556449T>A | CA352145227 | SCN5A | c.4426A>T (p.Lys1476Ter) c.4429A>T (p.Lys1477Ter) c.4375A>T (p.Lys1459Ter) c.4267A>T (p.Lys1423Ter) c.4300A>T (p.Lys1434Ter) c.4372A>T (p.Lys1458Ter) | dbSNP |
| 3 | g.38556449T>C | CA352145225 | SCN5A | c.4426A>G (p.Lys1476Glu) c.4429A>G (p.Lys1477Glu) c.4375A>G (p.Lys1459Glu) c.4267A>G (p.Lys1423Glu) c.4300A>G (p.Lys1434Glu) c.4372A>G (p.Lys1458Glu) | ClinVar |
| 3 | g.38556449T>G | CA352145226 | SCN5A | c.4426A>C (p.Lys1476Gln) c.4429A>C (p.Lys1477Gln) c.4375A>C (p.Lys1459Gln) c.4267A>C (p.Lys1423Gln) c.4300A>C (p.Lys1434Gln) c.4372A>C (p.Lys1458Gln) | |
| 3 | g.38556449T= | CA1358563411 | SCN5A | c.4426A= (p.Lys1476=) c.4429A= (p.Lys1477=) c.4375A= (p.Lys1459=) c.4267A= (p.Lys1423=) c.4300A= (p.Lys1434=) c.4372A= (p.Lys1458=) | |
| 3 | g.38556450C>A | CA352145228 | SCN5A | c.4425G>T (p.Gln1475His) c.4428G>T (p.Gln1476His) c.4374G>T (p.Gln1458His) c.4266G>T (p.Gln1422His) c.4299G>T (p.Gln1433His) c.4371G>T (p.Gln1457His) | |
| 3 | g.38556450C= | CA1358563412 | SCN5A | c.4425G= (p.Gln1475=) c.4428G= (p.Gln1476=) c.4374G= (p.Gln1458=) c.4266G= (p.Gln1422=) c.4299G= (p.Gln1433=) c.4371G= (p.Gln1457=) | |
| 3 | g.38556450C>G | CA352145229 | SCN5A | c.4425G>C (p.Gln1475His) c.4428G>C (p.Gln1476His) c.4374G>C (p.Gln1458His) c.4266G>C (p.Gln1422His) c.4299G>C (p.Gln1433His) c.4371G>C (p.Gln1457His) | gnomAD v4 COSMIC |
| 3 | g.38556450C>T | CA433136011 | SCN5A | c.4425G>A (p.Gln1475=) c.4428G>A (p.Gln1476=) c.4374G>A (p.Gln1458=) c.4266G>A (p.Gln1422=) c.4299G>A (p.Gln1433=) c.4371G>A (p.Gln1457=) | dbSNP gnomAD v2 COSMIC COSMIC COSMIC |
| 3 | g.38556451T>A | CA352145230 | SCN5A | c.4424A>T (p.Gln1475Leu) c.4427A>T (p.Gln1476Leu) c.4373A>T (p.Gln1458Leu) c.4265A>T (p.Gln1422Leu) c.4298A>T (p.Gln1433Leu) c.4370A>T (p.Gln1457Leu) | |
| 3 | g.38556451T>C | CA352145231 | SCN5A | c.4424A>G (p.Gln1475Arg) c.4427A>G (p.Gln1476Arg) c.4373A>G (p.Gln1458Arg) c.4265A>G (p.Gln1422Arg) c.4298A>G (p.Gln1433Arg) c.4370A>G (p.Gln1457Arg) | |
| 3 | g.38556451T>G | CA352145232 | SCN5A | c.4424A>C (p.Gln1475Pro) c.4427A>C (p.Gln1476Pro) c.4373A>C (p.Gln1458Pro) c.4265A>C (p.Gln1422Pro) c.4298A>C (p.Gln1433Pro) c.4370A>C (p.Gln1457Pro) | |
| 3 | g.38556452G>A | CA352145233 | SCN5A | c.4423C>T (p.Gln1475Ter) c.4426C>T (p.Gln1476Ter) c.4372C>T (p.Gln1458Ter) c.4264C>T (p.Gln1422Ter) c.4297C>T (p.Gln1433Ter) c.4369C>T (p.Gln1457Ter) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38556452G>C | CA352145234 | SCN5A | c.4423C>G (p.Gln1475Glu) c.4426C>G (p.Gln1476Glu) c.4372C>G (p.Gln1458Glu) c.4264C>G (p.Gln1422Glu) c.4297C>G (p.Gln1433Glu) c.4369C>G (p.Gln1457Glu) | |
| 3 | g.38556452G= | CA1358563414 | SCN5A | c.4423C= (p.Gln1475=) c.4426C= (p.Gln1476=) c.4372C= (p.Gln1458=) c.4264C= (p.Gln1422=) c.4297C= (p.Gln1433=) c.4369C= (p.Gln1457=) | |
| 3 | g.38556452G>T | CA352145235 | SCN5A | c.4423C>A (p.Gln1475Lys) c.4426C>A (p.Gln1476Lys) c.4372C>A (p.Gln1458Lys) c.4264C>A (p.Gln1422Lys) c.4297C>A (p.Gln1433Lys) c.4369C>A (p.Gln1457Lys) | |
| 3 | g.38556456_38556459del | CA2580614211 | SCN5A | c.4420_4423del (p.Gln1474ArgfsTer5) c.4423_4426del (p.Gln1475ArgfsTer5) c.4369_4372del (p.Gln1457ArgfsTer5) c.4261_4264del (p.Gln1421ArgfsTer5) c.4294_4297del (p.Gln1432ArgfsTer5) c.4366_4369del (p.Gln1456ArgfsTer5) | ClinVar dbSNP |
| 3 | g.38556453T>A | CA352145236 | SCN5A | c.4422A>T (p.Gln1474His) c.4425A>T (p.Gln1475His) c.4371A>T (p.Gln1457His) c.4263A>T (p.Gln1421His) c.4296A>T (p.Gln1432His) c.4368A>T (p.Gln1456His) | |
| 3 | g.38556453T>C | CA433136012 | SCN5A | c.4422A>G (p.Gln1474=) c.4425A>G (p.Gln1475=) c.4371A>G (p.Gln1457=) c.4263A>G (p.Gln1421=) c.4296A>G (p.Gln1432=) c.4368A>G (p.Gln1456=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38556453T>G | CA352145237 | SCN5A | c.4422A>C (p.Gln1474His) c.4425A>C (p.Gln1475His) c.4371A>C (p.Gln1457His) c.4263A>C (p.Gln1421His) c.4296A>C (p.Gln1432His) c.4368A>C (p.Gln1456His) | |
| 3 | g.38556454T>A | CA018253 | SCN5A | c.4421A>T (p.Gln1474Leu) c.4424A>T (p.Gln1475Leu) c.4370A>T (p.Gln1457Leu) c.4262A>T (p.Gln1421Leu) c.4295A>T (p.Gln1432Leu) c.4367A>T (p.Gln1456Leu) | ClinVar dbSNP |
| 3 | g.38556454T>C | CA352145239 | SCN5A | c.4421A>G (p.Gln1474Arg) c.4424A>G (p.Gln1475Arg) c.4370A>G (p.Gln1457Arg) c.4262A>G (p.Gln1421Arg) c.4295A>G (p.Gln1432Arg) c.4367A>G (p.Gln1456Arg) | |
| 3 | g.38556454T>G | CA352145238 | SCN5A | c.4421A>C (p.Gln1474Pro) c.4424A>C (p.Gln1475Pro) c.4370A>C (p.Gln1457Pro) c.4262A>C (p.Gln1421Pro) c.4295A>C (p.Gln1432Pro) c.4367A>C (p.Gln1456Pro) | |
| 3 | g.38556454T= | CA1358563418 | SCN5A | c.4421A= (p.Gln1474=) c.4424A= (p.Gln1475=) c.4370A= (p.Gln1457=) c.4262A= (p.Gln1421=) c.4295A= (p.Gln1432=) c.4367A= (p.Gln1456=) | |
| 3 | g.38556454_38556455delinsTG | CA1358563416 | SCN5A | c.4420_4421delinsCA (p.Gln1474=) c.4423_4424delinsCA (p.Gln1475=) c.4369_4370delinsCA (p.Gln1457=) c.4261_4262delinsCA (p.Gln1421=) c.4294_4295delinsCA (p.Gln1432=) c.4366_4367delinsCA (p.Gln1456=) | |
| 3 | g.38556455G>A | CA352145240 | SCN5A | c.4420C>T (p.Gln1474Ter) c.4423C>T (p.Gln1475Ter) c.4369C>T (p.Gln1457Ter) c.4261C>T (p.Gln1421Ter) c.4294C>T (p.Gln1432Ter) c.4366C>T (p.Gln1456Ter) | |
| 3 | g.38556455G>C | CA352145241 | SCN5A | c.4420C>G (p.Gln1474Glu) c.4423C>G (p.Gln1475Glu) c.4369C>G (p.Gln1457Glu) c.4261C>G (p.Gln1421Glu) c.4294C>G (p.Gln1432Glu) c.4366C>G (p.Gln1456Glu) | ClinVar dbSNP |
| 3 | g.38556455G>T | CA352145242 | SCN5A | c.4420C>A (p.Gln1474Lys) c.4423C>A (p.Gln1475Lys) c.4369C>A (p.Gln1457Lys) c.4261C>A (p.Gln1421Lys) c.4294C>A (p.Gln1432Lys) c.4366C>A (p.Gln1456Lys) | |
| 3 | g.38556456del | CA10587575 | SCN5A | c.4420del (p.Gln1474AsnfsTer6) c.4423del (p.Gln1475AsnfsTer6) c.4369del (p.Gln1457AsnfsTer6) c.4261del (p.Gln1421AsnfsTer6) c.4294del (p.Gln1432AsnfsTer6) c.4366del (p.Gln1456AsnfsTer6) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38556456G>A | CA72943309 | SCN5A | c.4419C>T (p.Asn1473=) c.4422C>T (p.Asn1474=) c.4368C>T (p.Asn1456=) c.4260C>T (p.Asn1420=) c.4293C>T (p.Asn1431=) c.4365C>T (p.Asn1455=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38556456G>C | CA352145243 | SCN5A | c.4419C>G (p.Asn1473Lys) c.4422C>G (p.Asn1474Lys) c.4368C>G (p.Asn1456Lys) c.4260C>G (p.Asn1420Lys) c.4293C>G (p.Asn1431Lys) c.4365C>G (p.Asn1455Lys) | dbSNP gnomAD v4 |
| 3 | g.38556456G= | CA1358563421 | SCN5A | c.4419C= (p.Asn1473=) c.4422C= (p.Asn1474=) c.4368C= (p.Asn1456=) c.4260C= (p.Asn1420=) c.4293C= (p.Asn1431=) c.4365C= (p.Asn1455=) | |
| 3 | g.38556456G>T | CA352145244 | SCN5A | c.4419C>A (p.Asn1473Lys) c.4422C>A (p.Asn1474Lys) c.4368C>A (p.Asn1456Lys) c.4260C>A (p.Asn1420Lys) c.4293C>A (p.Asn1431Lys) c.4365C>A (p.Asn1455Lys) | |
| 3 | g.38556457T>A | CA352145245 | SCN5A | c.4418A>T (p.Asn1473Ile) c.4421A>T (p.Asn1474Ile) c.4367A>T (p.Asn1456Ile) c.4259A>T (p.Asn1420Ile) c.4292A>T (p.Asn1431Ile) c.4364A>T (p.Asn1455Ile) | |
| 3 | g.38556457T>C | CA352145247 | SCN5A | c.4418A>G (p.Asn1473Ser) c.4421A>G (p.Asn1474Ser) c.4367A>G (p.Asn1456Ser) c.4259A>G (p.Asn1420Ser) c.4292A>G (p.Asn1431Ser) c.4364A>G (p.Asn1455Ser) | |
| 3 | g.38556457T>G | CA352145246 | SCN5A | c.4418A>C (p.Asn1473Thr) c.4421A>C (p.Asn1474Thr) c.4367A>C (p.Asn1456Thr) c.4259A>C (p.Asn1420Thr) c.4292A>C (p.Asn1431Thr) c.4364A>C (p.Asn1455Thr) | |
| 3 | g.38556458T>A | CA352145248 | SCN5A | c.4417A>T (p.Asn1473Tyr) c.4420A>T (p.Asn1474Tyr) c.4366A>T (p.Asn1456Tyr) c.4258A>T (p.Asn1420Tyr) c.4291A>T (p.Asn1431Tyr) c.4363A>T (p.Asn1455Tyr) | |
| 3 | g.38556458T>C | CA352145249 | SCN5A | c.4417A>G (p.Asn1473Asp) c.4420A>G (p.Asn1474Asp) c.4366A>G (p.Asn1456Asp) c.4258A>G (p.Asn1420Asp) c.4291A>G (p.Asn1431Asp) c.4363A>G (p.Asn1455Asp) | |
| 3 | g.38556458T>G | CA352145250 | SCN5A | c.4417A>C (p.Asn1473His) c.4420A>C (p.Asn1474His) c.4366A>C (p.Asn1456His) c.4258A>C (p.Asn1420His) c.4291A>C (p.Asn1431His) c.4363A>C (p.Asn1455His) | |
| 3 | g.38556459G>A | CA433136013 | SCN5A | c.4416C>T (p.Phe1472=) c.4419C>T (p.Phe1473=) c.4365C>T (p.Phe1455=) c.4257C>T (p.Phe1419=) c.4290C>T (p.Phe1430=) c.4362C>T (p.Phe1454=) | |
| 3 | g.38556459G>C | CA352145251 | SCN5A | c.4416C>G (p.Phe1472Leu) c.4419C>G (p.Phe1473Leu) c.4365C>G (p.Phe1455Leu) c.4257C>G (p.Phe1419Leu) c.4290C>G (p.Phe1430Leu) c.4362C>G (p.Phe1454Leu) | ClinVar |
| 3 | g.38556459G>T | CA352145252 | SCN5A | c.4416C>A (p.Phe1472Leu) c.4419C>A (p.Phe1473Leu) c.4365C>A (p.Phe1455Leu) c.4257C>A (p.Phe1419Leu) c.4290C>A (p.Phe1430Leu) c.4362C>A (p.Phe1454Leu) | |
| 3 | g.38556460A= | CA1358563424 | SCN5A | c.4415T= (p.Phe1472=) c.4418T= (p.Phe1473=) c.4364T= (p.Phe1455=) c.4256T= (p.Phe1419=) c.4289T= (p.Phe1430=) c.4361T= (p.Phe1454=) | |
| 3 | g.38556460A>C | CA018247 | SCN5A | c.4415T>G (p.Phe1472Cys) c.4418T>G (p.Phe1473Cys) c.4364T>G (p.Phe1455Cys) c.4256T>G (p.Phe1419Cys) c.4289T>G (p.Phe1430Cys) c.4361T>G (p.Phe1454Cys) | ClinVar dbSNP |
| 3 | g.38556460A>G | CA018241 | SCN5A | c.4415T>C (p.Phe1472Ser) c.4418T>C (p.Phe1473Ser) c.4364T>C (p.Phe1455Ser) c.4256T>C (p.Phe1419Ser) c.4289T>C (p.Phe1430Ser) c.4361T>C (p.Phe1454Ser) | ClinVar dbSNP |
| 3 | g.38556460A>T | CA352145253 | SCN5A | c.4415T>A (p.Phe1472Tyr) c.4418T>A (p.Phe1473Tyr) c.4364T>A (p.Phe1455Tyr) c.4256T>A (p.Phe1419Tyr) c.4289T>A (p.Phe1430Tyr) c.4361T>A (p.Phe1454Tyr) | |
| 3 | g.38556461A= | CA1358563426 | SCN5A | c.4414T= (p.Phe1472=) c.4417T= (p.Phe1473=) c.4363T= (p.Phe1455=) c.4255T= (p.Phe1419=) c.4288T= (p.Phe1430=) c.4360T= (p.Phe1454=) | |
| 3 | g.38556461A>C | CA352145254 | SCN5A | c.4414T>G (p.Phe1472Val) c.4417T>G (p.Phe1473Val) c.4363T>G (p.Phe1455Val) c.4255T>G (p.Phe1419Val) c.4288T>G (p.Phe1430Val) c.4360T>G (p.Phe1454Val) | |
| 3 | g.38556461A>G | CA16604466 | SCN5A | c.4414T>C (p.Phe1472Leu) c.4417T>C (p.Phe1473Leu) c.4363T>C (p.Phe1455Leu) c.4255T>C (p.Phe1419Leu) c.4288T>C (p.Phe1430Leu) c.4360T>C (p.Phe1454Leu) | ClinVar dbSNP |
| 3 | g.38556461A>T | CA352145255 | SCN5A | c.4414T>A (p.Phe1472Ile) c.4417T>A (p.Phe1473Ile) c.4363T>A (p.Phe1455Ile) c.4255T>A (p.Phe1419Ile) c.4288T>A (p.Phe1430Ile) c.4360T>A (p.Phe1454Ile) | ClinVar |
| 3 | g.38556462G>A | CA433136015 | SCN5A | c.4413C>T (p.Asn1471=) c.4416C>T (p.Asn1472=) c.4362C>T (p.Asn1454=) c.4254C>T (p.Asn1418=) c.4287C>T (p.Asn1429=) c.4359C>T (p.Asn1453=) | gnomAD v4 |
| 3 | g.38556462G>C | CA352145256 | SCN5A | c.4413C>G (p.Asn1471Lys) c.4416C>G (p.Asn1472Lys) c.4362C>G (p.Asn1454Lys) c.4254C>G (p.Asn1418Lys) c.4287C>G (p.Asn1429Lys) c.4359C>G (p.Asn1453Lys) | |
| 3 | g.38556462G>T | CA352145257 | SCN5A | c.4413C>A (p.Asn1471Lys) c.4416C>A (p.Asn1472Lys) c.4362C>A (p.Asn1454Lys) c.4254C>A (p.Asn1418Lys) c.4287C>A (p.Asn1429Lys) c.4359C>A (p.Asn1453Lys) | |
| 3 | g.38556464_38556466del | CA2586965720 | SCN5A | c.4411_4413del (p.Asn1471del) c.4414_4416del (p.Asn1472del) c.4360_4362del (p.Asn1454del) c.4252_4254del (p.Asn1418del) c.4285_4287del (p.Asn1429del) c.4357_4359del (p.Asn1453del) | |
| 3 | g.38556463T>A | CA352145258 | SCN5A | c.4412A>T (p.Asn1471Ile) c.4415A>T (p.Asn1472Ile) c.4361A>T (p.Asn1454Ile) c.4253A>T (p.Asn1418Ile) c.4286A>T (p.Asn1429Ile) c.4358A>T (p.Asn1453Ile) | ClinVar dbSNP |
| 3 | g.38556463T>C | CA018236 | SCN5A | c.4412A>G (p.Asn1471Ser) c.4415A>G (p.Asn1472Ser) c.4361A>G (p.Asn1454Ser) c.4253A>G (p.Asn1418Ser) c.4286A>G (p.Asn1429Ser) c.4358A>G (p.Asn1453Ser) | ClinVar dbSNP |
| 3 | g.38556463T>G | CA352145259 | SCN5A | c.4412A>C (p.Asn1471Thr) c.4415A>C (p.Asn1472Thr) c.4361A>C (p.Asn1454Thr) c.4253A>C (p.Asn1418Thr) c.4286A>C (p.Asn1429Thr) c.4358A>C (p.Asn1453Thr) | |
| 3 | g.38556463T= | CA1358563430 | SCN5A | c.4412A= (p.Asn1471=) c.4415A= (p.Asn1472=) c.4361A= (p.Asn1454=) c.4253A= (p.Asn1418=) c.4286A= (p.Asn1429=) c.4358A= (p.Asn1453=) | |
| 3 | g.38556464T>A | CA352145260 | SCN5A | c.4411A>T (p.Asn1471Tyr) c.4414A>T (p.Asn1472Tyr) c.4360A>T (p.Asn1454Tyr) c.4252A>T (p.Asn1418Tyr) c.4285A>T (p.Asn1429Tyr) c.4357A>T (p.Asn1453Tyr) | |
| 3 | g.38556464T>C | CA352145261 | SCN5A | c.4411A>G (p.Asn1471Asp) c.4414A>G (p.Asn1472Asp) c.4360A>G (p.Asn1454Asp) c.4252A>G (p.Asn1418Asp) c.4285A>G (p.Asn1429Asp) c.4357A>G (p.Asn1453Asp) | |
| 3 | g.38556464T>G | CA352145262 | SCN5A | c.4411A>C (p.Asn1471His) c.4414A>C (p.Asn1472His) c.4360A>C (p.Asn1454His) c.4252A>C (p.Asn1418His) c.4285A>C (p.Asn1429His) c.4357A>C (p.Asn1453His) | |
| 3 | g.38556465G>A | CA433136019 | SCN5A | c.4410C>T (p.Asp1470=) c.4413C>T (p.Asp1471=) c.4359C>T (p.Asp1453=) c.4251C>T (p.Asp1417=) c.4284C>T (p.Asp1428=) c.4356C>T (p.Asp1452=) | ClinVar |
| 3 | g.38556465G>C | CA352145263 | SCN5A | c.4410C>G (p.Asp1470Glu) c.4413C>G (p.Asp1471Glu) c.4359C>G (p.Asp1453Glu) c.4251C>G (p.Asp1417Glu) c.4284C>G (p.Asp1428Glu) c.4356C>G (p.Asp1452Glu) | |
| 3 | g.38556465G>T | CA352145264 | SCN5A | c.4410C>A (p.Asp1470Glu) c.4413C>A (p.Asp1471Glu) c.4359C>A (p.Asp1453Glu) c.4251C>A (p.Asp1417Glu) c.4284C>A (p.Asp1428Glu) c.4356C>A (p.Asp1452Glu) | gnomAD v4 |
| 3 | g.38556466T>A | CA352145266 | SCN5A | c.4409A>T (p.Asp1470Val) c.4412A>T (p.Asp1471Val) c.4358A>T (p.Asp1453Val) c.4250A>T (p.Asp1417Val) c.4283A>T (p.Asp1428Val) c.4355A>T (p.Asp1452Val) | |
| 3 | g.38556466T>C | CA72943317 | SCN5A | c.4409A>G (p.Asp1470Gly) c.4412A>G (p.Asp1471Gly) c.4358A>G (p.Asp1453Gly) c.4250A>G (p.Asp1417Gly) c.4283A>G (p.Asp1428Gly) c.4355A>G (p.Asp1452Gly) | dbSNP |
| 3 | g.38556466T>G | CA352145265 | SCN5A | c.4409A>C (p.Asp1470Ala) c.4412A>C (p.Asp1471Ala) c.4358A>C (p.Asp1453Ala) c.4250A>C (p.Asp1417Ala) c.4283A>C (p.Asp1428Ala) c.4355A>C (p.Asp1452Ala) | |
| 3 | g.38556466T= | CA1358563432 | SCN5A | c.4409A= (p.Asp1470=) c.4412A= (p.Asp1471=) c.4358A= (p.Asp1453=) c.4250A= (p.Asp1417=) c.4283A= (p.Asp1428=) c.4355A= (p.Asp1452=) | |
| 3 | g.38556467C>A | CA352145267 | SCN5A | c.4408G>T (p.Asp1470Tyr) c.4411G>T (p.Asp1471Tyr) c.4357G>T (p.Asp1453Tyr) c.4249G>T (p.Asp1417Tyr) c.4282G>T (p.Asp1428Tyr) c.4354G>T (p.Asp1452Tyr) | gnomAD v4 |
| 3 | g.38556467C>G | CA352145268 | SCN5A | c.4408G>C (p.Asp1470His) c.4411G>C (p.Asp1471His) c.4357G>C (p.Asp1453His) c.4249G>C (p.Asp1417His) c.4282G>C (p.Asp1428His) c.4354G>C (p.Asp1452His) | |
| 3 | g.38556467C>T | CA352145269 | SCN5A | c.4408G>A (p.Asp1470Asn) c.4411G>A (p.Asp1471Asn) c.4357G>A (p.Asp1453Asn) c.4249G>A (p.Asp1417Asn) c.4282G>A (p.Asp1428Asn) c.4354G>A (p.Asp1452Asn) | |
| 3 | g.38556468A= | CA1358563435 | SCN5A | c.4407T= (p.Ile1469=) c.4410T= (p.Ile1470=) c.4356T= (p.Ile1452=) c.4248T= (p.Ile1416=) c.4281T= (p.Ile1427=) c.4353T= (p.Ile1451=) | |
| 3 | g.38556468A>C | CA352145270 | SCN5A | c.4407T>G (p.Ile1469Met) c.4410T>G (p.Ile1470Met) c.4356T>G (p.Ile1452Met) c.4248T>G (p.Ile1416Met) c.4281T>G (p.Ile1427Met) c.4353T>G (p.Ile1451Met) | |
| 3 | g.38556468A>G | CA433136020 | SCN5A | c.4407T>C (p.Ile1469=) c.4410T>C (p.Ile1470=) c.4356T>C (p.Ile1452=) c.4248T>C (p.Ile1416=) c.4281T>C (p.Ile1427=) c.4353T>C (p.Ile1451=) | |
| 3 | g.38556468A>T | CA063166 | SCN5A | c.4407T>A (p.Ile1469=) c.4410T>A (p.Ile1470=) c.4356T>A (p.Ile1452=) c.4248T>A (p.Ile1416=) c.4281T>A (p.Ile1427=) c.4353T>A (p.Ile1451=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38556469A= | CA1358563436 | SCN5A | c.4406T= (p.Ile1469=) c.4409T= (p.Ile1470=) c.4355T= (p.Ile1452=) c.4247T= (p.Ile1416=) c.4280T= (p.Ile1427=) c.4352T= (p.Ile1451=) | |
| 3 | g.38556469A>C | CA352145271 | SCN5A | c.4406T>G (p.Ile1469Ser) c.4409T>G (p.Ile1470Ser) c.4355T>G (p.Ile1452Ser) c.4247T>G (p.Ile1416Ser) c.4280T>G (p.Ile1427Ser) c.4352T>G (p.Ile1451Ser) | |
| 3 | g.38556469A>G | CA018232 | SCN5A | c.4406T>C (p.Ile1469Thr) c.4409T>C (p.Ile1470Thr) c.4355T>C (p.Ile1452Thr) c.4247T>C (p.Ile1416Thr) c.4280T>C (p.Ile1427Thr) c.4352T>C (p.Ile1451Thr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38556469A>T | CA352145272 | SCN5A | c.4406T>A (p.Ile1469Asn) c.4409T>A (p.Ile1470Asn) c.4355T>A (p.Ile1452Asn) c.4247T>A (p.Ile1416Asn) c.4280T>A (p.Ile1427Asn) c.4352T>A (p.Ile1451Asn) | |
| 3 | g.38556470T>A | CA352145273 | SCN5A | c.4405A>T (p.Ile1469Phe) c.4408A>T (p.Ile1470Phe) c.4354A>T (p.Ile1452Phe) c.4246A>T (p.Ile1416Phe) c.4279A>T (p.Ile1427Phe) c.4351A>T (p.Ile1451Phe) | |
| 3 | g.38556470T>C | CA352145274 | SCN5A | c.4405A>G (p.Ile1469Val) c.4408A>G (p.Ile1470Val) c.4354A>G (p.Ile1452Val) c.4246A>G (p.Ile1416Val) c.4279A>G (p.Ile1427Val) c.4351A>G (p.Ile1451Val) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38556470T>G | CA352145275 | SCN5A | c.4405A>C (p.Ile1469Leu) c.4408A>C (p.Ile1470Leu) c.4354A>C (p.Ile1452Leu) c.4246A>C (p.Ile1416Leu) c.4279A>C (p.Ile1427Leu) c.4351A>C (p.Ile1451Leu) | |
| 3 | g.38556470T= | CA1358563438 | SCN5A | c.4405A= (p.Ile1469=) c.4408A= (p.Ile1470=) c.4354A= (p.Ile1452=) c.4246A= (p.Ile1416=) c.4279A= (p.Ile1427=) c.4351A= (p.Ile1451=) | |
| 3 | g.38556471G>A | CA433136022 | SCN5A | c.4404C>T (p.Ile1468=) c.4407C>T (p.Ile1469=) c.4353C>T (p.Ile1451=) c.4245C>T (p.Ile1415=) c.4278C>T (p.Ile1426=) c.4350C>T (p.Ile1450=) | COSMIC COSMIC COSMIC |
| 3 | g.38556471G>C | CA352145276 | SCN5A | c.4404C>G (p.Ile1468Met) c.4407C>G (p.Ile1469Met) c.4353C>G (p.Ile1451Met) c.4245C>G (p.Ile1415Met) c.4278C>G (p.Ile1426Met) c.4350C>G (p.Ile1450Met) | |
| 3 | g.38556471G= | CA1358563440 | SCN5A | c.4404C= (p.Ile1468=) c.4407C= (p.Ile1469=) c.4353C= (p.Ile1451=) c.4245C= (p.Ile1415=) c.4278C= (p.Ile1426=) c.4350C= (p.Ile1450=) | |
| 3 | g.38556471G>T | CA433136023 | SCN5A | c.4404C>A (p.Ile1468=) c.4407C>A (p.Ile1469=) c.4353C>A (p.Ile1451=) c.4245C>A (p.Ile1415=) c.4278C>A (p.Ile1426=) c.4350C>A (p.Ile1450=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38556472A>C | CA352145278 | SCN5A | c.4403T>G (p.Ile1468Ser) c.4406T>G (p.Ile1469Ser) c.4352T>G (p.Ile1451Ser) c.4244T>G (p.Ile1415Ser) c.4277T>G (p.Ile1426Ser) c.4349T>G (p.Ile1450Ser) | |
| 3 | g.38556472A>G | CA352145279 | SCN5A | c.4403T>C (p.Ile1468Thr) c.4406T>C (p.Ile1469Thr) c.4352T>C (p.Ile1451Thr) c.4244T>C (p.Ile1415Thr) c.4277T>C (p.Ile1426Thr) c.4349T>C (p.Ile1450Thr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38556472A>T | CA352145277 | SCN5A | c.4403T>A (p.Ile1468Asn) c.4406T>A (p.Ile1469Asn) c.4352T>A (p.Ile1451Asn) c.4244T>A (p.Ile1415Asn) c.4277T>A (p.Ile1426Asn) c.4349T>A (p.Ile1450Asn) | |
| 3 | g.38556473T>A | CA018226 | SCN5A | c.4402A>T (p.Ile1468Phe) c.4405A>T (p.Ile1469Phe) c.4351A>T (p.Ile1451Phe) c.4243A>T (p.Ile1415Phe) c.4276A>T (p.Ile1426Phe) c.4348A>T (p.Ile1450Phe) | ClinVar dbSNP |
| 3 | g.38556473T>C | CA352145280 | SCN5A | c.4402A>G (p.Ile1468Val) c.4405A>G (p.Ile1469Val) c.4351A>G (p.Ile1451Val) c.4243A>G (p.Ile1415Val) c.4276A>G (p.Ile1426Val) c.4348A>G (p.Ile1450Val) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38556473T>G | CA352145281 | SCN5A | c.4402A>C (p.Ile1468Leu) c.4405A>C (p.Ile1469Leu) c.4351A>C (p.Ile1451Leu) c.4243A>C (p.Ile1415Leu) c.4276A>C (p.Ile1426Leu) c.4348A>C (p.Ile1450Leu) | |
| 3 | g.38556473T= | CA1358563442 | SCN5A | c.4402A= (p.Ile1468=) c.4405A= (p.Ile1469=) c.4351A= (p.Ile1451=) c.4243A= (p.Ile1415=) c.4276A= (p.Ile1426=) c.4348A= (p.Ile1450=) | |
| 3 | g.38556473_38556476del | CA2586965722 | SCN5A | c.4399_4402del (p.Val1467SerfsTer12) c.4402_4405del (p.Val1468SerfsTer12) c.4348_4351del (p.Val1450SerfsTer12) c.4240_4243del (p.Val1414SerfsTer12) c.4273_4276del (p.Val1425SerfsTer12) c.4345_4348del (p.Val1449SerfsTer12) | |
| 3 | g.38556474G>A | CA063160 | SCN5A | c.4401C>T (p.Val1467=) c.4404C>T (p.Val1468=) c.4350C>T (p.Val1450=) c.4242C>T (p.Val1414=) c.4275C>T (p.Val1425=) c.4347C>T (p.Val1449=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38556474G>C | CA433136025 | SCN5A | c.4401C>G (p.Val1467=) c.4404C>G (p.Val1468=) c.4350C>G (p.Val1450=) c.4242C>G (p.Val1414=) c.4275C>G (p.Val1425=) c.4347C>G (p.Val1449=) | |
| 3 | g.38556474G= | CA1358563444 | SCN5A | c.4401C= (p.Val1467=) c.4404C= (p.Val1468=) c.4350C= (p.Val1450=) c.4242C= (p.Val1414=) c.4275C= (p.Val1425=) c.4347C= (p.Val1449=) | |
| 3 | g.38556474G>T | CA433136026 | SCN5A | c.4401C>A (p.Val1467=) c.4404C>A (p.Val1468=) c.4350C>A (p.Val1450=) c.4242C>A (p.Val1414=) c.4275C>A (p.Val1425=) c.4347C>A (p.Val1449=) | gnomAD v4 |
| 3 | g.38556475del | CA2665110974 | SCN5A | c.4400del (p.Val1467AlafsTer13) c.4403del (p.Val1468AlafsTer13) c.4349del (p.Val1450AlafsTer13) c.4241del (p.Val1414AlafsTer13) c.4274del (p.Val1425AlafsTer13) c.4346del (p.Val1449AlafsTer13) | gnomAD v4 |
| 3 | g.38556475A= | CA1358563447 | SCN5A | c.4400T= (p.Val1467=) c.4403T= (p.Val1468=) c.4349T= (p.Val1450=) c.4241T= (p.Val1414=) c.4274T= (p.Val1425=) c.4346T= (p.Val1449=) | |
| 3 | g.38556475A>C | CA352145282 | SCN5A | c.4400T>G (p.Val1467Gly) c.4403T>G (p.Val1468Gly) c.4349T>G (p.Val1450Gly) c.4241T>G (p.Val1414Gly) c.4274T>G (p.Val1425Gly) c.4346T>G (p.Val1449Gly) | |
| 3 | g.38556475A>G | CA018220 | SCN5A | c.4400T>C (p.Val1467Ala) c.4403T>C (p.Val1468Ala) c.4349T>C (p.Val1450Ala) c.4241T>C (p.Val1414Ala) c.4274T>C (p.Val1425Ala) c.4346T>C (p.Val1449Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38556475A>T | CA352145283 | SCN5A | c.4400T>A (p.Val1467Asp) c.4403T>A (p.Val1468Asp) c.4349T>A (p.Val1450Asp) c.4241T>A (p.Val1414Asp) c.4274T>A (p.Val1425Asp) c.4346T>A (p.Val1449Asp) | |
| 3 | g.38556476C>A | CA018214 | SCN5A | c.4399G>T (p.Val1467Phe) c.4402G>T (p.Val1468Phe) c.4348G>T (p.Val1450Phe) c.4240G>T (p.Val1414Phe) c.4273G>T (p.Val1425Phe) c.4345G>T (p.Val1449Phe) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38556476C= | CA1358563450 | SCN5A | c.4399G= (p.Val1467=) c.4402G= (p.Val1468=) c.4348G= (p.Val1450=) c.4240G= (p.Val1414=) c.4273G= (p.Val1425=) c.4345G= (p.Val1449=) | |
| 3 | g.38556476C>G | CA352145284 | SCN5A | c.4399G>C (p.Val1467Leu) c.4402G>C (p.Val1468Leu) c.4348G>C (p.Val1450Leu) c.4240G>C (p.Val1414Leu) c.4273G>C (p.Val1425Leu) c.4345G>C (p.Val1449Leu) | |
| 3 | g.38556476C>T | CA352145285 | SCN5A | c.4399G>A (p.Val1467Ile) c.4402G>A (p.Val1468Ile) c.4348G>A (p.Val1450Ile) c.4240G>A (p.Val1414Ile) c.4273G>A (p.Val1425Ile) c.4345G>A (p.Val1449Ile) | |
| 3 | g.38556477A>C | CA433136028 | SCN5A | c.4398T>G (p.Gly1466=) c.4401T>G (p.Gly1467=) c.4347T>G (p.Gly1449=) c.4239T>G (p.Gly1413=) c.4272T>G (p.Gly1424=) c.4344T>G (p.Gly1448=) | ClinVar |
| 3 | g.38556477A>G | CA433136029 | SCN5A | c.4398T>C (p.Gly1466=) c.4401T>C (p.Gly1467=) c.4347T>C (p.Gly1449=) c.4239T>C (p.Gly1413=) c.4272T>C (p.Gly1424=) c.4344T>C (p.Gly1448=) | ClinVar |
| 3 | g.38556477A>T | CA433136030 | SCN5A | c.4398T>A (p.Gly1466=) c.4401T>A (p.Gly1467=) c.4347T>A (p.Gly1449=) c.4239T>A (p.Gly1413=) c.4272T>A (p.Gly1424=) c.4344T>A (p.Gly1448=) | |
| 3 | g.38556478C>A | CA352145286 | SCN5A | c.4397G>T (p.Gly1466Val) c.4400G>T (p.Gly1467Val) c.4346G>T (p.Gly1449Val) c.4238G>T (p.Gly1413Val) c.4271G>T (p.Gly1424Val) c.4343G>T (p.Gly1448Val) | |
| 3 | g.38556478C>G | CA352145287 | SCN5A | c.4397G>C (p.Gly1466Ala) c.4400G>C (p.Gly1467Ala) c.4346G>C (p.Gly1449Ala) c.4238G>C (p.Gly1413Ala) c.4271G>C (p.Gly1424Ala) c.4343G>C (p.Gly1448Ala) | |
| 3 | g.38556478C>T | CA352145288 | SCN5A | c.4397G>A (p.Gly1466Asp) c.4400G>A (p.Gly1467Asp) c.4346G>A (p.Gly1449Asp) c.4238G>A (p.Gly1413Asp) c.4271G>A (p.Gly1424Asp) c.4343G>A (p.Gly1448Asp) | |
| 3 | g.38556479C>A | CA352145291 | SCN5A | c.4396G>T (p.Gly1466Cys) c.4399G>T (p.Gly1467Cys) c.4345G>T (p.Gly1449Cys) c.4237G>T (p.Gly1413Cys) c.4270G>T (p.Gly1424Cys) c.4342G>T (p.Gly1448Cys) | |
| 3 | g.38556479C>G | CA352145290 | SCN5A | c.4396G>C (p.Gly1466Arg) c.4399G>C (p.Gly1467Arg) c.4345G>C (p.Gly1449Arg) c.4237G>C (p.Gly1413Arg) c.4270G>C (p.Gly1424Arg) c.4342G>C (p.Gly1448Arg) | |
| 3 | g.38556479C>T | CA352145289 | SCN5A | c.4396G>A (p.Gly1466Ser) c.4399G>A (p.Gly1467Ser) c.4345G>A (p.Gly1449Ser) c.4237G>A (p.Gly1413Ser) c.4270G>A (p.Gly1424Ser) c.4342G>A (p.Gly1448Ser) | gnomAD v4 |
| 3 | g.38556480A>C | CA352145292 | SCN5A | c.4395T>G (p.Ile1465Met) c.4398T>G (p.Ile1466Met) c.4344T>G (p.Ile1448Met) c.4236T>G (p.Ile1412Met) c.4269T>G (p.Ile1423Met) c.4341T>G (p.Ile1447Met) | |
| 3 | g.38556480A>G | CA433136034 | SCN5A | c.4395T>C (p.Ile1465=) c.4398T>C (p.Ile1466=) c.4344T>C (p.Ile1448=) c.4236T>C (p.Ile1412=) c.4269T>C (p.Ile1423=) c.4341T>C (p.Ile1447=) | |
| 3 | g.38556480A>T | CA433136035 | SCN5A | c.4395T>A (p.Ile1465=) c.4398T>A (p.Ile1466=) c.4344T>A (p.Ile1448=) c.4236T>A (p.Ile1412=) c.4269T>A (p.Ile1423=) c.4341T>A (p.Ile1447=) | |
| 3 | g.38556481A= | CA1358563452 | SCN5A | c.4394T= (p.Ile1465=) c.4397T= (p.Ile1466=) c.4343T= (p.Ile1448=) c.4235T= (p.Ile1412=) c.4268T= (p.Ile1423=) c.4340T= (p.Ile1447=) | |
| 3 | g.38556481A>C | CA352145293 | SCN5A | c.4394T>G (p.Ile1465Ser) c.4397T>G (p.Ile1466Ser) c.4343T>G (p.Ile1448Ser) c.4235T>G (p.Ile1412Ser) c.4268T>G (p.Ile1423Ser) c.4340T>G (p.Ile1447Ser) | |
| 3 | g.38556481A>G | CA018207 | SCN5A | c.4394T>C (p.Ile1465Thr) c.4397T>C (p.Ile1466Thr) c.4343T>C (p.Ile1448Thr) c.4235T>C (p.Ile1412Thr) c.4268T>C (p.Ile1423Thr) c.4340T>C (p.Ile1447Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38556481A>T | CA352145294 | SCN5A | c.4394T>A (p.Ile1465Asn) c.4397T>A (p.Ile1466Asn) c.4343T>A (p.Ile1448Asn) c.4235T>A (p.Ile1412Asn) c.4268T>A (p.Ile1423Asn) c.4340T>A (p.Ile1447Asn) | |
| 3 | g.38556481_38556482delinsAT | CA1358563453 | SCN5A | c.4393_4394delinsAT (p.Ile1465=) c.4396_4397delinsAT (p.Ile1466=) c.4342_4343delinsAT (p.Ile1448=) c.4234_4235delinsAT (p.Ile1412=) c.4267_4268delinsAT (p.Ile1423=) c.4339_4340delinsAT (p.Ile1447=) | |
| 3 | g.38556482del | CA913188102 | SCN5A | c.4393del (p.Ile1465LeufsTer15) c.4396del (p.Ile1466LeufsTer15) c.4342del (p.Ile1448LeufsTer15) c.4234del (p.Ile1412LeufsTer15) c.4267del (p.Ile1423LeufsTer15) c.4339del (p.Ile1447LeufsTer15) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38556482T>A | CA352145295 | SCN5A | c.4393A>T (p.Ile1465Phe) c.4396A>T (p.Ile1466Phe) c.4342A>T (p.Ile1448Phe) c.4234A>T (p.Ile1412Phe) c.4267A>T (p.Ile1423Phe) c.4339A>T (p.Ile1447Phe) | COSMIC COSMIC COSMIC |
| 3 | g.38556482T>C | CA018201 | SCN5A | c.4393A>G (p.Ile1465Val) c.4396A>G (p.Ile1466Val) c.4342A>G (p.Ile1448Val) c.4234A>G (p.Ile1412Val) c.4267A>G (p.Ile1423Val) c.4339A>G (p.Ile1447Val) | ClinVar dbSNP |
| 3 | g.38556482T>G | CA352145296 | SCN5A | c.4393A>C (p.Ile1465Leu) c.4396A>C (p.Ile1466Leu) c.4342A>C (p.Ile1448Leu) c.4234A>C (p.Ile1412Leu) c.4267A>C (p.Ile1423Leu) c.4339A>C (p.Ile1447Leu) | |
| 3 | g.38556482T= | CA1358563455 | SCN5A | c.4393A= (p.Ile1465=) c.4396A= (p.Ile1466=) c.4342A= (p.Ile1448=) c.4234A= (p.Ile1412=) c.4267A= (p.Ile1423=) c.4339A= (p.Ile1447=) | |
| 3 | g.38556483_38556490del | CA2586965724 | SCN5A | c.4386_4393del (p.Leu1463TrpfsTer5) c.4389_4396del (p.Leu1464TrpfsTer5) c.4335_4342del (p.Leu1446TrpfsTer5) c.4227_4234del (p.Leu1410TrpfsTer5) c.4260_4267del (p.Leu1421TrpfsTer5) c.4332_4339del (p.Leu1445TrpfsTer5) | |
| 3 | g.38556483A>C | CA352145297 | SCN5A | c.4392T>G (p.Phe1464Leu) c.4395T>G (p.Phe1465Leu) c.4341T>G (p.Phe1447Leu) c.4233T>G (p.Phe1411Leu) c.4266T>G (p.Phe1422Leu) c.4338T>G (p.Phe1446Leu) | |
| 3 | g.38556483A>G | CA433136043 | SCN5A | c.4392T>C (p.Phe1464=) c.4395T>C (p.Phe1465=) c.4341T>C (p.Phe1447=) c.4233T>C (p.Phe1411=) c.4266T>C (p.Phe1422=) c.4338T>C (p.Phe1446=) | |
| 3 | g.38556483A>T | CA352145298 | SCN5A | c.4392T>A (p.Phe1464Leu) c.4395T>A (p.Phe1465Leu) c.4341T>A (p.Phe1447Leu) c.4233T>A (p.Phe1411Leu) c.4266T>A (p.Phe1422Leu) c.4338T>A (p.Phe1446Leu) | |
| 3 | g.38556484A>C | CA352145299 | SCN5A | c.4391T>G (p.Phe1464Cys) c.4394T>G (p.Phe1465Cys) c.4340T>G (p.Phe1447Cys) c.4232T>G (p.Phe1411Cys) c.4265T>G (p.Phe1422Cys) c.4337T>G (p.Phe1446Cys) | |
| 3 | g.38556484A>G | CA352145300 | SCN5A | c.4391T>C (p.Phe1464Ser) c.4394T>C (p.Phe1465Ser) c.4340T>C (p.Phe1447Ser) c.4232T>C (p.Phe1411Ser) c.4265T>C (p.Phe1422Ser) c.4337T>C (p.Phe1446Ser) | |
| 3 | g.38556484A>T | CA352145301 | SCN5A | c.4391T>A (p.Phe1464Tyr) c.4394T>A (p.Phe1465Tyr) c.4340T>A (p.Phe1447Tyr) c.4232T>A (p.Phe1411Tyr) c.4265T>A (p.Phe1422Tyr) c.4337T>A (p.Phe1446Tyr) | |
| 3 | g.38556485A= | CA1358563457 | SCN5A | c.4390T= (p.Phe1464=) c.4393T= (p.Phe1465=) c.4339T= (p.Phe1447=) c.4231T= (p.Phe1411=) c.4264T= (p.Phe1422=) c.4336T= (p.Phe1446=) | |
| 3 | g.38556485A>C | CA352145302 | SCN5A | c.4390T>G (p.Phe1464Val) c.4393T>G (p.Phe1465Val) c.4339T>G (p.Phe1447Val) c.4231T>G (p.Phe1411Val) c.4264T>G (p.Phe1422Val) c.4336T>G (p.Phe1446Val) | |
| 3 | g.38556485A>G | CA352145304 | SCN5A | c.4390T>C (p.Phe1464Leu) c.4393T>C (p.Phe1465Leu) c.4339T>C (p.Phe1447Leu) c.4231T>C (p.Phe1411Leu) c.4264T>C (p.Phe1422Leu) c.4336T>C (p.Phe1446Leu) | ClinVar dbSNP |
| 3 | g.38556485A>T | CA352145303 | SCN5A | c.4390T>A (p.Phe1464Ile) c.4393T>A (p.Phe1465Ile) c.4339T>A (p.Phe1447Ile) c.4231T>A (p.Phe1411Ile) c.4264T>A (p.Phe1422Ile) c.4336T>A (p.Phe1446Ile) | |
| 3 | g.38556486G>A | CA433136048 | SCN5A | c.4389C>T (p.Leu1463=) c.4392C>T (p.Leu1464=) c.4338C>T (p.Leu1446=) c.4230C>T (p.Leu1410=) c.4263C>T (p.Leu1421=) c.4335C>T (p.Leu1445=) | gnomAD v4 |
| 3 | g.38556486G>C | CA433136049 | SCN5A | c.4389C>G (p.Leu1463=) c.4392C>G (p.Leu1464=) c.4338C>G (p.Leu1446=) c.4230C>G (p.Leu1410=) c.4263C>G (p.Leu1421=) c.4335C>G (p.Leu1445=) | |
| 3 | g.38556486G>T | CA433136047 | SCN5A | c.4389C>A (p.Leu1463=) c.4392C>A (p.Leu1464=) c.4338C>A (p.Leu1446=) c.4230C>A (p.Leu1410=) c.4263C>A (p.Leu1421=) c.4335C>A (p.Leu1445=) | |
| 3 | g.38556487A= | CA1358563458 | SCN5A | c.4388T= (p.Leu1463=) c.4391T= (p.Leu1464=) c.4337T= (p.Leu1446=) c.4229T= (p.Leu1410=) c.4262T= (p.Leu1421=) c.4334T= (p.Leu1445=) | |
| 3 | g.38556487A>C | CA352145305 | SCN5A | c.4388T>G (p.Leu1463Arg) c.4391T>G (p.Leu1464Arg) c.4337T>G (p.Leu1446Arg) c.4229T>G (p.Leu1410Arg) c.4262T>G (p.Leu1421Arg) c.4334T>G (p.Leu1445Arg) | |
| 3 | g.38556487A>G | CA352145307 | SCN5A | c.4388T>C (p.Leu1463Pro) c.4391T>C (p.Leu1464Pro) c.4337T>C (p.Leu1446Pro) c.4229T>C (p.Leu1410Pro) c.4262T>C (p.Leu1421Pro) c.4334T>C (p.Leu1445Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38556487A>T | CA352145306 | SCN5A | c.4388T>A (p.Leu1463His) c.4391T>A (p.Leu1464His) c.4337T>A (p.Leu1446His) c.4229T>A (p.Leu1410His) c.4262T>A (p.Leu1421His) c.4334T>A (p.Leu1445His) | |
| 3 | g.38556488G>A | CA352145308 | SCN5A | c.4387C>T (p.Leu1463Phe) c.4390C>T (p.Leu1464Phe) c.4336C>T (p.Leu1446Phe) c.4228C>T (p.Leu1410Phe) c.4261C>T (p.Leu1421Phe) c.4333C>T (p.Leu1445Phe) | |
| 3 | g.38556488G>C | CA352145310 | SCN5A | c.4387C>G (p.Leu1463Val) c.4390C>G (p.Leu1464Val) c.4336C>G (p.Leu1446Val) c.4228C>G (p.Leu1410Val) c.4261C>G (p.Leu1421Val) c.4333C>G (p.Leu1445Val) | |
| 3 | g.38556488G>T | CA352145309 | SCN5A | c.4387C>A (p.Leu1463Ile) c.4390C>A (p.Leu1464Ile) c.4336C>A (p.Leu1446Ile) c.4228C>A (p.Leu1410Ile) c.4261C>A (p.Leu1421Ile) c.4333C>A (p.Leu1445Ile) | |
| 3 | g.38556489G>A | CA433136053 | SCN5A | c.4386C>T (p.Asn1462=) c.4389C>T (p.Asn1463=) c.4335C>T (p.Asn1445=) c.4227C>T (p.Asn1409=) c.4260C>T (p.Asn1420=) c.4332C>T (p.Asn1444=) | |
| 3 | g.38556489G>C | CA352145311 | SCN5A | c.4386C>G (p.Asn1462Lys) c.4389C>G (p.Asn1463Lys) c.4335C>G (p.Asn1445Lys) c.4227C>G (p.Asn1409Lys) c.4260C>G (p.Asn1420Lys) c.4332C>G (p.Asn1444Lys) | |
| 3 | g.38556489G= | CA1358563459 | SCN5A | c.4386C= (p.Asn1462=) c.4389C= (p.Asn1463=) c.4335C= (p.Asn1445=) c.4227C= (p.Asn1409=) c.4260C= (p.Asn1420=) c.4332C= (p.Asn1444=) | |
| 3 | g.38556489G>T | CA16617945 | SCN5A | c.4386C>A (p.Asn1462Lys) c.4389C>A (p.Asn1463Lys) c.4335C>A (p.Asn1445Lys) c.4227C>A (p.Asn1409Lys) c.4260C>A (p.Asn1420Lys) c.4332C>A (p.Asn1444Lys) | ClinVar dbSNP |
| 3 | g.38556490T>A | CA352145312 | SCN5A | c.4385A>T (p.Asn1462Ile) c.4388A>T (p.Asn1463Ile) c.4334A>T (p.Asn1445Ile) c.4226A>T (p.Asn1409Ile) c.4259A>T (p.Asn1420Ile) c.4331A>T (p.Asn1444Ile) | |
| 3 | g.38556490T>C | CA352145314 | SCN5A | c.4385A>G (p.Asn1462Ser) c.4388A>G (p.Asn1463Ser) c.4334A>G (p.Asn1445Ser) c.4226A>G (p.Asn1409Ser) c.4259A>G (p.Asn1420Ser) c.4331A>G (p.Asn1444Ser) | |
| 3 | g.38556490T>G | CA352145313 | SCN5A | c.4385A>C (p.Asn1462Thr) c.4388A>C (p.Asn1463Thr) c.4334A>C (p.Asn1445Thr) c.4226A>C (p.Asn1409Thr) c.4259A>C (p.Asn1420Thr) c.4331A>C (p.Asn1444Thr) | |
| 3 | g.38556491T>A | CA018194 | SCN5A | c.4384A>T (p.Asn1462Tyr) c.4387A>T (p.Asn1463Tyr) c.4333A>T (p.Asn1445Tyr) c.4225A>T (p.Asn1409Tyr) c.4258A>T (p.Asn1420Tyr) c.4330A>T (p.Asn1444Tyr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38556491T>C | CA352145316 | SCN5A | c.4384A>G (p.Asn1462Asp) c.4387A>G (p.Asn1463Asp) c.4333A>G (p.Asn1445Asp) c.4225A>G (p.Asn1409Asp) c.4258A>G (p.Asn1420Asp) c.4330A>G (p.Asn1444Asp) | |
| 3 | g.38556491T>G | CA352145315 | SCN5A | c.4384A>C (p.Asn1462His) c.4387A>C (p.Asn1463His) c.4333A>C (p.Asn1445His) c.4225A>C (p.Asn1409His) c.4258A>C (p.Asn1420His) c.4330A>C (p.Asn1444His) | |
| 3 | g.38556491T= | CA1358563461 | SCN5A | c.4384A= (p.Asn1462=) c.4387A= (p.Asn1463=) c.4333A= (p.Asn1445=) c.4225A= (p.Asn1409=) c.4258A= (p.Asn1420=) c.4330A= (p.Asn1444=) | |
| 3 | g.38556492C>A | CA433136057 | SCN5A | c.4383G>T (p.Leu1461=) c.4386G>T (p.Leu1462=) c.4332G>T (p.Leu1444=) c.4224G>T (p.Leu1408=) c.4257G>T (p.Leu1419=) c.4329G>T (p.Leu1443=) | |
| 3 | g.38556492C>G | CA433136059 | SCN5A | c.4383G>C (p.Leu1461=) c.4386G>C (p.Leu1462=) c.4332G>C (p.Leu1444=) c.4224G>C (p.Leu1408=) c.4257G>C (p.Leu1419=) c.4329G>C (p.Leu1443=) | |
| 3 | g.38556492C>T | CA433136058 | SCN5A | c.4383G>A (p.Leu1461=) c.4386G>A (p.Leu1462=) c.4332G>A (p.Leu1444=) c.4224G>A (p.Leu1408=) c.4257G>A (p.Leu1419=) c.4329G>A (p.Leu1443=) | |
| 3 | g.38556493A>C | CA352145317 | SCN5A | c.4382T>G (p.Leu1461Arg) c.4385T>G (p.Leu1462Arg) c.4331T>G (p.Leu1444Arg) c.4223T>G (p.Leu1408Arg) c.4256T>G (p.Leu1419Arg) c.4328T>G (p.Leu1443Arg) | |
| 3 | g.38556493A>G | CA352145319 | SCN5A | c.4382T>C (p.Leu1461Pro) c.4385T>C (p.Leu1462Pro) c.4331T>C (p.Leu1444Pro) c.4223T>C (p.Leu1408Pro) c.4256T>C (p.Leu1419Pro) c.4328T>C (p.Leu1443Pro) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38556493A>T | CA352145318 | SCN5A | c.4382T>A (p.Leu1461Gln) c.4385T>A (p.Leu1462Gln) c.4331T>A (p.Leu1444Gln) c.4223T>A (p.Leu1408Gln) c.4256T>A (p.Leu1419Gln) c.4328T>A (p.Leu1443Gln) | |
| 3 | g.38556493_38556494delinsAG | CA1358563463 | SCN5A | c.4381_4382delinsCT (p.Leu1461=) c.4384_4385delinsCT (p.Leu1462=) c.4330_4331delinsCT (p.Leu1444=) c.4222_4223delinsCT (p.Leu1408=) c.4255_4256delinsCT (p.Leu1419=) c.4327_4328delinsCT (p.Leu1443=) | |
| 3 | g.38556494G>A | CA433136060 | SCN5A | c.4381C>T (p.Leu1461=) c.4384C>T (p.Leu1462=) c.4330C>T (p.Leu1444=) c.4222C>T (p.Leu1408=) c.4255C>T (p.Leu1419=) c.4327C>T (p.Leu1443=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38556494G>C | CA352145320 | SCN5A | c.4381C>G (p.Leu1461Val) c.4384C>G (p.Leu1462Val) c.4330C>G (p.Leu1444Val) c.4222C>G (p.Leu1408Val) c.4255C>G (p.Leu1419Val) c.4327C>G (p.Leu1443Val) | |
| 3 | g.38556494G= | CA1358563465 | SCN5A | c.4381C= (p.Leu1461=) c.4384C= (p.Leu1462=) c.4330C= (p.Leu1444=) c.4222C= (p.Leu1408=) c.4255C= (p.Leu1419=) c.4327C= (p.Leu1443=) | |
| 3 | g.38556494G>T | CA352145321 | SCN5A | c.4381C>A (p.Leu1461Met) c.4384C>A (p.Leu1462Met) c.4330C>A (p.Leu1444Met) c.4222C>A (p.Leu1408Met) c.4255C>A (p.Leu1419Met) c.4327C>A (p.Leu1443Met) | gnomAD v4 |
| 3 | g.38556496del | CA658796277 | SCN5A | c.4381del (p.Leu1461Ter) c.4384del (p.Leu1462Ter) c.4330del (p.Leu1444Ter) c.4222del (p.Leu1408Ter) c.4255del (p.Leu1419Ter) c.4327del (p.Leu1443Ter) | ClinVar dbSNP |
| 3 | g.38556495G>A | CA433136061 | SCN5A | c.4380C>T (p.Thr1460=) c.4383C>T (p.Thr1461=) c.4329C>T (p.Thr1443=) c.4221C>T (p.Thr1407=) c.4254C>T (p.Thr1418=) c.4326C>T (p.Thr1442=) | ClinVar gnomAD v4 |
| 3 | g.38556495G>C | CA433136062 | SCN5A | c.4380C>G (p.Thr1460=) c.4383C>G (p.Thr1461=) c.4329C>G (p.Thr1443=) c.4221C>G (p.Thr1407=) c.4254C>G (p.Thr1418=) c.4326C>G (p.Thr1442=) | |
| 3 | g.38556495G>T | CA433136063 | SCN5A | c.4380C>A (p.Thr1460=) c.4383C>A (p.Thr1461=) c.4329C>A (p.Thr1443=) c.4221C>A (p.Thr1407=) c.4254C>A (p.Thr1418=) c.4326C>A (p.Thr1442=) | |
| 3 | g.38556496G>A | CA352145322 | SCN5A | c.4379C>T (p.Thr1460Ile) c.4382C>T (p.Thr1461Ile) c.4328C>T (p.Thr1443Ile) c.4220C>T (p.Thr1407Ile) c.4253C>T (p.Thr1418Ile) c.4325C>T (p.Thr1442Ile) | gnomAD v4 |
| 3 | g.38556496G>C | CA352145324 | SCN5A | c.4379C>G (p.Thr1460Ser) c.4382C>G (p.Thr1461Ser) c.4328C>G (p.Thr1443Ser) c.4220C>G (p.Thr1407Ser) c.4253C>G (p.Thr1418Ser) c.4325C>G (p.Thr1442Ser) | |
| 3 | g.38556496G>T | CA352145323 | SCN5A | c.4379C>A (p.Thr1460Asn) c.4382C>A (p.Thr1461Asn) c.4328C>A (p.Thr1443Asn) c.4220C>A (p.Thr1407Asn) c.4253C>A (p.Thr1418Asn) c.4325C>A (p.Thr1442Asn) | |
| 3 | g.38556497T>A | CA352145325 | SCN5A | c.4378A>T (p.Thr1460Ser) c.4381A>T (p.Thr1461Ser) c.4327A>T (p.Thr1443Ser) c.4219A>T (p.Thr1407Ser) c.4252A>T (p.Thr1418Ser) c.4324A>T (p.Thr1442Ser) | |
| 3 | g.38556497T>C | CA352145326 | SCN5A | c.4378A>G (p.Thr1460Ala) c.4381A>G (p.Thr1461Ala) c.4327A>G (p.Thr1443Ala) c.4219A>G (p.Thr1407Ala) c.4252A>G (p.Thr1418Ala) c.4324A>G (p.Thr1442Ala) | |
| 3 | g.38556497T>G | CA352145327 | SCN5A | c.4378A>C (p.Thr1460Pro) c.4381A>C (p.Thr1461Pro) c.4327A>C (p.Thr1443Pro) c.4219A>C (p.Thr1407Pro) c.4252A>C (p.Thr1418Pro) c.4324A>C (p.Thr1442Pro) | |
| 3 | g.38556498G>A | CA433136070 | SCN5A | c.4377C>T (p.Phe1459=) c.4380C>T (p.Phe1460=) c.4326C>T (p.Phe1442=) c.4218C>T (p.Phe1406=) c.4251C>T (p.Phe1417=) c.4323C>T (p.Phe1441=) | |
| 3 | g.38556498G>C | CA352145328 | SCN5A | c.4377C>G (p.Phe1459Leu) c.4380C>G (p.Phe1460Leu) c.4326C>G (p.Phe1442Leu) c.4218C>G (p.Phe1406Leu) c.4251C>G (p.Phe1417Leu) c.4323C>G (p.Phe1441Leu) | |
| 3 | g.38556498G>T | CA352145329 | SCN5A | c.4377C>A (p.Phe1459Leu) c.4380C>A (p.Phe1460Leu) c.4326C>A (p.Phe1442Leu) c.4218C>A (p.Phe1406Leu) c.4251C>A (p.Phe1417Leu) c.4323C>A (p.Phe1441Leu) | COSMIC COSMIC COSMIC |
| 3 | g.38556499A>C | CA352145330 | SCN5A | c.4376T>G (p.Phe1459Cys) c.4379T>G (p.Phe1460Cys) c.4325T>G (p.Phe1442Cys) c.4217T>G (p.Phe1406Cys) c.4250T>G (p.Phe1417Cys) c.4322T>G (p.Phe1441Cys) | |
| 3 | g.38556499A>G | CA352145331 | SCN5A | c.4376T>C (p.Phe1459Ser) c.4379T>C (p.Phe1460Ser) c.4325T>C (p.Phe1442Ser) c.4217T>C (p.Phe1406Ser) c.4250T>C (p.Phe1417Ser) c.4322T>C (p.Phe1441Ser) | |
| 3 | g.38556499A>T | CA352145332 | SCN5A | c.4376T>A (p.Phe1459Tyr) c.4379T>A (p.Phe1460Tyr) c.4325T>A (p.Phe1442Tyr) c.4217T>A (p.Phe1406Tyr) c.4250T>A (p.Phe1417Tyr) c.4322T>A (p.Phe1441Tyr) | |
| 3 | g.38556503_38556506del | CA2586965726 | SCN5A | c.4373_4376del (p.Phe1458SerfsTer3) c.4376_4379del (p.Phe1459SerfsTer3) c.4322_4325del (p.Phe1441SerfsTer3) c.4214_4217del (p.Phe1405SerfsTer3) c.4247_4250del (p.Phe1416SerfsTer3) c.4319_4322del (p.Phe1440SerfsTer3) | |
| 3 | g.38556500A>C | CA352145333 | SCN5A | c.4375T>G (p.Phe1459Val) c.4378T>G (p.Phe1460Val) c.4324T>G (p.Phe1442Val) c.4216T>G (p.Phe1406Val) c.4249T>G (p.Phe1417Val) c.4321T>G (p.Phe1441Val) | COSMIC COSMIC COSMIC |
| 3 | g.38556500A>G | CA352145334 | SCN5A | c.4375T>C (p.Phe1459Leu) c.4378T>C (p.Phe1460Leu) c.4324T>C (p.Phe1442Leu) c.4216T>C (p.Phe1406Leu) c.4249T>C (p.Phe1417Leu) c.4321T>C (p.Phe1441Leu) | |
| 3 | g.38556500A>T | CA352145335 | SCN5A | c.4375T>A (p.Phe1459Ile) c.4378T>A (p.Phe1460Ile) c.4324T>A (p.Phe1442Ile) c.4216T>A (p.Phe1406Ile) c.4249T>A (p.Phe1417Ile) c.4321T>A (p.Phe1441Ile) | |
| 3 | g.38556501G>A | CA433136075 | SCN5A | c.4374C>T (p.Phe1458=) c.4377C>T (p.Phe1459=) c.4323C>T (p.Phe1441=) c.4215C>T (p.Phe1405=) c.4248C>T (p.Phe1416=) c.4320C>T (p.Phe1440=) | |
| 3 | g.38556501G>C | CA352145336 | SCN5A | c.4374C>G (p.Phe1458Leu) c.4377C>G (p.Phe1459Leu) c.4323C>G (p.Phe1441Leu) c.4215C>G (p.Phe1405Leu) c.4248C>G (p.Phe1416Leu) c.4320C>G (p.Phe1440Leu) | |
| 3 | g.38556501G>T | CA352145337 | SCN5A | c.4374C>A (p.Phe1458Leu) c.4377C>A (p.Phe1459Leu) c.4323C>A (p.Phe1441Leu) c.4215C>A (p.Phe1405Leu) c.4248C>A (p.Phe1416Leu) c.4320C>A (p.Phe1440Leu) | |
| 3 | g.38556502A>C | CA352145338 | SCN5A | c.4373T>G (p.Phe1458Cys) c.4376T>G (p.Phe1459Cys) c.4322T>G (p.Phe1441Cys) c.4214T>G (p.Phe1405Cys) c.4247T>G (p.Phe1416Cys) c.4319T>G (p.Phe1440Cys) | |
| 3 | g.38556502A>G | CA352145340 | SCN5A | c.4373T>C (p.Phe1458Ser) c.4376T>C (p.Phe1459Ser) c.4322T>C (p.Phe1441Ser) c.4214T>C (p.Phe1405Ser) c.4247T>C (p.Phe1416Ser) c.4319T>C (p.Phe1440Ser) | |
| 3 | g.38556502A>T | CA352145339 | SCN5A | c.4373T>A (p.Phe1458Tyr) c.4376T>A (p.Phe1459Tyr) c.4322T>A (p.Phe1441Tyr) c.4214T>A (p.Phe1405Tyr) c.4247T>A (p.Phe1416Tyr) c.4319T>A (p.Phe1440Tyr) | |
| 3 | g.38556504del | CA2573136305 | SCN5A | c.4373del (p.Phe1458SerfsTer4) c.4376del (p.Phe1459SerfsTer4) c.4322del (p.Phe1441SerfsTer4) c.4214del (p.Phe1405SerfsTer4) c.4247del (p.Phe1416SerfsTer4) c.4319del (p.Phe1440SerfsTer4) | ClinVar dbSNP |
| 3 | g.38556503A>C | CA352145341 | SCN5A | c.4372T>G (p.Phe1458Val) c.4375T>G (p.Phe1459Val) c.4321T>G (p.Phe1441Val) c.4213T>G (p.Phe1405Val) c.4246T>G (p.Phe1416Val) c.4318T>G (p.Phe1440Val) | |
| 3 | g.38556503A>G | CA352145342 | SCN5A | c.4372T>C (p.Phe1458Leu) c.4375T>C (p.Phe1459Leu) c.4321T>C (p.Phe1441Leu) c.4213T>C (p.Phe1405Leu) c.4246T>C (p.Phe1416Leu) c.4318T>C (p.Phe1440Leu) | |
| 3 | g.38556503A>T | CA352145343 | SCN5A | c.4372T>A (p.Phe1458Ile) c.4375T>A (p.Phe1459Ile) c.4321T>A (p.Phe1441Ile) c.4213T>A (p.Phe1405Ile) c.4246T>A (p.Phe1416Ile) c.4318T>A (p.Phe1440Ile) | |
| 3 | g.38556504A>C | CA433136077 | SCN5A | c.4371T>G (p.Ser1457=) c.4374T>G (p.Ser1458=) c.4320T>G (p.Ser1440=) c.4212T>G (p.Ser1404=) c.4245T>G (p.Ser1415=) c.4317T>G (p.Ser1439=) | |
| 3 | g.38556504A>G | CA433136078 | SCN5A | c.4371T>C (p.Ser1457=) c.4374T>C (p.Ser1458=) c.4320T>C (p.Ser1440=) c.4212T>C (p.Ser1404=) c.4245T>C (p.Ser1415=) c.4317T>C (p.Ser1439=) | |
| 3 | g.38556504A>T | CA433136079 | SCN5A | c.4371T>A (p.Ser1457=) c.4374T>A (p.Ser1458=) c.4320T>A (p.Ser1440=) c.4212T>A (p.Ser1404=) c.4245T>A (p.Ser1415=) c.4317T>A (p.Ser1439=) | |
| 3 | g.38556505G>A | CA352145344 | SCN5A | c.4370C>T (p.Ser1457Phe) c.4373C>T (p.Ser1458Phe) c.4319C>T (p.Ser1440Phe) c.4211C>T (p.Ser1404Phe) c.4244C>T (p.Ser1415Phe) c.4316C>T (p.Ser1439Phe) | |
| 3 | g.38556505G>C | CA352145345 | SCN5A | c.4370C>G (p.Ser1457Cys) c.4373C>G (p.Ser1458Cys) c.4319C>G (p.Ser1440Cys) c.4211C>G (p.Ser1404Cys) c.4244C>G (p.Ser1415Cys) c.4316C>G (p.Ser1439Cys) | |
| 3 | g.38556505G= | CA1358563466 | SCN5A | c.4370C= (p.Ser1457=) c.4373C= (p.Ser1458=) c.4319C= (p.Ser1440=) c.4211C= (p.Ser1404=) c.4244C= (p.Ser1415=) c.4316C= (p.Ser1439=) | |
| 3 | g.38556505G>T | CA018188 | SCN5A | c.4370C>A (p.Ser1457Tyr) c.4373C>A (p.Ser1458Tyr) c.4319C>A (p.Ser1440Tyr) c.4211C>A (p.Ser1404Tyr) c.4244C>A (p.Ser1415Tyr) c.4316C>A (p.Ser1439Tyr) | ClinVar dbSNP |
| 3 | g.38556506A= | CA1358563468 | SCN5A | c.4369T= (p.Ser1457=) c.4372T= (p.Ser1458=) c.4318T= (p.Ser1440=) c.4210T= (p.Ser1404=) c.4243T= (p.Ser1415=) c.4315T= (p.Ser1439=) | |
| 3 | g.38556506A>C | CA352145346 | SCN5A | c.4369T>G (p.Ser1457Ala) c.4372T>G (p.Ser1458Ala) c.4318T>G (p.Ser1440Ala) c.4210T>G (p.Ser1404Ala) c.4243T>G (p.Ser1415Ala) c.4315T>G (p.Ser1439Ala) | |
| 3 | g.38556506A>G | CA352145347 | SCN5A | c.4369T>C (p.Ser1457Pro) c.4372T>C (p.Ser1458Pro) c.4318T>C (p.Ser1440Pro) c.4210T>C (p.Ser1404Pro) c.4243T>C (p.Ser1415Pro) c.4315T>C (p.Ser1439Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38556506A>T | CA352145348 | SCN5A | c.4369T>A (p.Ser1457Thr) c.4372T>A (p.Ser1458Thr) c.4318T>A (p.Ser1440Thr) c.4210T>A (p.Ser1404Thr) c.4243T>A (p.Ser1415Thr) c.4315T>A (p.Ser1439Thr) | |
| 3 | g.38556507C>A | CA433136082 | SCN5A | c.4368G>T (p.Gly1456=) c.4371G>T (p.Gly1457=) c.4317G>T (p.Gly1439=) c.4209G>T (p.Gly1403=) c.4242G>T (p.Gly1414=) c.4314G>T (p.Gly1438=) | |
| 3 | g.38556507C= | CA1358563469 | SCN5A | c.4368G= (p.Gly1456=) c.4371G= (p.Gly1457=) c.4317G= (p.Gly1439=) c.4209G= (p.Gly1403=) c.4242G= (p.Gly1414=) c.4314G= (p.Gly1438=) | |
| 3 | g.38556507C>G | CA433136084 | SCN5A | c.4368G>C (p.Gly1456=) c.4371G>C (p.Gly1457=) c.4317G>C (p.Gly1439=) c.4209G>C (p.Gly1403=) c.4242G>C (p.Gly1414=) c.4314G>C (p.Gly1438=) | |
| 3 | g.38556507C>T | CA433136083 | SCN5A | c.4368G>A (p.Gly1456=) c.4371G>A (p.Gly1457=) c.4317G>A (p.Gly1439=) c.4209G>A (p.Gly1403=) c.4242G>A (p.Gly1414=) c.4314G>A (p.Gly1438=) | ClinVar dbSNP |
| 3 | g.38556508C>A | CA352145351 | SCN5A | c.4367G>T (p.Gly1456Val) c.4370G>T (p.Gly1457Val) c.4316G>T (p.Gly1439Val) c.4208G>T (p.Gly1403Val) c.4241G>T (p.Gly1414Val) c.4313G>T (p.Gly1438Val) | |
| 3 | g.38556508C>G | CA352145350 | SCN5A | c.4367G>C (p.Gly1456Ala) c.4370G>C (p.Gly1457Ala) c.4316G>C (p.Gly1439Ala) c.4208G>C (p.Gly1403Ala) c.4241G>C (p.Gly1414Ala) c.4313G>C (p.Gly1438Ala) | |
| 3 | g.38556508C>T | CA352145349 | SCN5A | c.4367G>A (p.Gly1456Glu) c.4370G>A (p.Gly1457Glu) c.4316G>A (p.Gly1439Glu) c.4208G>A (p.Gly1403Glu) c.4241G>A (p.Gly1414Glu) c.4313G>A (p.Gly1438Glu) | |
| 3 | g.38556509C>A | CA352145352 | SCN5A | c.4366G>T (p.Gly1456Trp) c.4369G>T (p.Gly1457Trp) c.4315G>T (p.Gly1439Trp) c.4207G>T (p.Gly1403Trp) c.4240G>T (p.Gly1414Trp) c.4312G>T (p.Gly1438Trp) | |
| 3 | g.38556509C>G | CA352145353 | SCN5A | c.4366G>C (p.Gly1456Arg) c.4369G>C (p.Gly1457Arg) c.4315G>C (p.Gly1439Arg) c.4207G>C (p.Gly1403Arg) c.4240G>C (p.Gly1414Arg) c.4312G>C (p.Gly1438Arg) | ClinVar |
| 3 | g.38556509C>T | CA352145354 | SCN5A | c.4366G>A (p.Gly1456Arg) c.4369G>A (p.Gly1457Arg) c.4315G>A (p.Gly1439Arg) c.4207G>A (p.Gly1403Arg) c.4240G>A (p.Gly1414Arg) c.4312G>A (p.Gly1438Arg) | |
| 3 | g.38556510A= | CA1358563471 | SCN5A | c.4365T= (p.Phe1455=) c.4368T= (p.Phe1456=) c.4314T= (p.Phe1438=) c.4206T= (p.Phe1402=) c.4239T= (p.Phe1413=) c.4311T= (p.Phe1437=) | |
| 3 | g.38556510A>C | CA352145355 | SCN5A | c.4365T>G (p.Phe1455Leu) c.4368T>G (p.Phe1456Leu) c.4314T>G (p.Phe1438Leu) c.4206T>G (p.Phe1402Leu) c.4239T>G (p.Phe1413Leu) c.4311T>G (p.Phe1437Leu) | |
| 3 | g.38556510A>G | CA433136089 | SCN5A | c.4365T>C (p.Phe1455=) c.4368T>C (p.Phe1456=) c.4314T>C (p.Phe1438=) c.4206T>C (p.Phe1402=) c.4239T>C (p.Phe1413=) c.4311T>C (p.Phe1437=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38556510A>T | CA352145356 | SCN5A | c.4365T>A (p.Phe1455Leu) c.4368T>A (p.Phe1456Leu) c.4314T>A (p.Phe1438Leu) c.4206T>A (p.Phe1402Leu) c.4239T>A (p.Phe1413Leu) c.4311T>A (p.Phe1437Leu) | |
| 3 | g.38556511A>C | CA352145357 | SCN5A | c.4364T>G (p.Phe1455Cys) c.4367T>G (p.Phe1456Cys) c.4313T>G (p.Phe1438Cys) c.4205T>G (p.Phe1402Cys) c.4238T>G (p.Phe1413Cys) c.4310T>G (p.Phe1437Cys) | |
| 3 | g.38556511A>G | CA352145358 | SCN5A | c.4364T>C (p.Phe1455Ser) c.4367T>C (p.Phe1456Ser) c.4313T>C (p.Phe1438Ser) c.4205T>C (p.Phe1402Ser) c.4238T>C (p.Phe1413Ser) c.4310T>C (p.Phe1437Ser) | |
| 3 | g.38556511A>T | CA352145359 | SCN5A | c.4364T>A (p.Phe1455Tyr) c.4367T>A (p.Phe1456Tyr) c.4313T>A (p.Phe1438Tyr) c.4205T>A (p.Phe1402Tyr) c.4238T>A (p.Phe1413Tyr) c.4310T>A (p.Phe1437Tyr) | |
| 3 | g.38556511_38556512insCACACCCAACAC | CA2755901508 | SCN5A | c.4363_4364insGTGTTGGGTGTG (p.Phe1455delinsCysValGlyCysVal) c.4366_4367insGTGTTGGGTGTG (p.Phe1456delinsCysValGlyCysVal) c.4312_4313insGTGTTGGGTGTG (p.Phe1438delinsCysValGlyCysVal) c.4204_4205insGTGTTGGGTGTG (p.Phe1402delinsCysValGlyCysVal) c.4237_4238insGTGTTGGGTGTG (p.Phe1413delinsCysValGlyCysVal) c.4309_4310insGTGTTGGGTGTG (p.Phe1437delinsCysValGlyCysVal) | |
| 3 | g.38556512A>C | CA352145360 | SCN5A | c.4363T>G (p.Phe1455Val) c.4366T>G (p.Phe1456Val) c.4312T>G (p.Phe1438Val) c.4204T>G (p.Phe1402Val) c.4237T>G (p.Phe1413Val) c.4309T>G (p.Phe1437Val) | |
| 3 | g.38556512A>G | CA352145361 | SCN5A | c.4363T>C (p.Phe1455Leu) c.4366T>C (p.Phe1456Leu) c.4312T>C (p.Phe1438Leu) c.4204T>C (p.Phe1402Leu) c.4237T>C (p.Phe1413Leu) c.4309T>C (p.Phe1437Leu) | ClinVar gnomAD v4 |
| 3 | g.38556512A>T | CA352145362 | SCN5A | c.4363T>A (p.Phe1455Ile) c.4366T>A (p.Phe1456Ile) c.4312T>A (p.Phe1438Ile) c.4204T>A (p.Phe1402Ile) c.4237T>A (p.Phe1413Ile) c.4309T>A (p.Phe1437Ile) | |
| 3 | g.38556513G>A | CA433136093 | SCN5A | c.4362C>T (p.Ile1454=) c.4365C>T (p.Ile1455=) c.4311C>T (p.Ile1437=) c.4203C>T (p.Ile1401=) c.4236C>T (p.Ile1412=) c.4308C>T (p.Ile1436=) | |
| 3 | g.38556513G>C | CA352145363 | SCN5A | c.4362C>G (p.Ile1454Met) c.4365C>G (p.Ile1455Met) c.4311C>G (p.Ile1437Met) c.4203C>G (p.Ile1401Met) c.4236C>G (p.Ile1412Met) c.4308C>G (p.Ile1436Met) | |
| 3 | g.38556513G= | CA1358563472 | SCN5A | c.4362C= (p.Ile1454=) c.4365C= (p.Ile1455=) c.4311C= (p.Ile1437=) c.4203C= (p.Ile1401=) c.4236C= (p.Ile1412=) c.4308C= (p.Ile1436=) | |
| 3 | g.38556513G>T | CA72943334 | SCN5A | c.4362C>A (p.Ile1454=) c.4365C>A (p.Ile1455=) c.4311C>A (p.Ile1437=) c.4203C>A (p.Ile1401=) c.4236C>A (p.Ile1412=) c.4308C>A (p.Ile1436=) | ClinVar dbSNP |
| 3 | g.38556514A>C | CA352145364 | SCN5A | c.4361T>G (p.Ile1454Ser) c.4364T>G (p.Ile1455Ser) c.4310T>G (p.Ile1437Ser) c.4202T>G (p.Ile1401Ser) c.4235T>G (p.Ile1412Ser) c.4307T>G (p.Ile1436Ser) | |
| 3 | g.38556514A>G | CA352145366 | SCN5A | c.4361T>C (p.Ile1454Thr) c.4364T>C (p.Ile1455Thr) c.4310T>C (p.Ile1437Thr) c.4202T>C (p.Ile1401Thr) c.4235T>C (p.Ile1412Thr) c.4307T>C (p.Ile1436Thr) | ClinVar gnomAD v4 |
| 3 | g.38556514A>T | CA352145365 | SCN5A | c.4361T>A (p.Ile1454Asn) c.4364T>A (p.Ile1455Asn) c.4310T>A (p.Ile1437Asn) c.4202T>A (p.Ile1401Asn) c.4235T>A (p.Ile1412Asn) c.4307T>A (p.Ile1436Asn) | |
| 3 | g.38556515T>A | CA352145367 | SCN5A | c.4360A>T (p.Ile1454Phe) c.4363A>T (p.Ile1455Phe) c.4309A>T (p.Ile1437Phe) c.4201A>T (p.Ile1401Phe) c.4234A>T (p.Ile1412Phe) c.4306A>T (p.Ile1436Phe) | |
| 3 | g.38556515T>C | CA352145368 | SCN5A | c.4360A>G (p.Ile1454Val) c.4363A>G (p.Ile1455Val) c.4309A>G (p.Ile1437Val) c.4201A>G (p.Ile1401Val) c.4234A>G (p.Ile1412Val) c.4306A>G (p.Ile1436Val) | |
| 3 | g.38556515T>G | CA352145369 | SCN5A | c.4360A>C (p.Ile1454Leu) c.4363A>C (p.Ile1455Leu) c.4309A>C (p.Ile1437Leu) c.4201A>C (p.Ile1401Leu) c.4234A>C (p.Ile1412Leu) c.4306A>C (p.Ile1436Leu) | |
| 3 | g.38556516G>A | CA433136097 | SCN5A | c.4359C>T (p.Ile1453=) c.4362C>T (p.Ile1454=) c.4308C>T (p.Ile1436=) c.4200C>T (p.Ile1400=) c.4233C>T (p.Ile1411=) c.4305C>T (p.Ile1435=) | |
| 3 | g.38556516G>C | CA352145370 | SCN5A | c.4359C>G (p.Ile1453Met) c.4362C>G (p.Ile1454Met) c.4308C>G (p.Ile1436Met) c.4200C>G (p.Ile1400Met) c.4233C>G (p.Ile1411Met) c.4305C>G (p.Ile1435Met) | |
| 3 | g.38556516G>T | CA433136098 | SCN5A | c.4359C>A (p.Ile1453=) c.4362C>A (p.Ile1454=) c.4308C>A (p.Ile1436=) c.4200C>A (p.Ile1400=) c.4233C>A (p.Ile1411=) c.4305C>A (p.Ile1435=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38556517A>C | CA352145371 | SCN5A | c.4358T>G (p.Ile1453Ser) c.4361T>G (p.Ile1454Ser) c.4307T>G (p.Ile1436Ser) c.4199T>G (p.Ile1400Ser) c.4232T>G (p.Ile1411Ser) c.4304T>G (p.Ile1435Ser) | |
| 3 | g.38556517A>G | CA352145372 | SCN5A | c.4358T>C (p.Ile1453Thr) c.4361T>C (p.Ile1454Thr) c.4307T>C (p.Ile1436Thr) c.4199T>C (p.Ile1400Thr) c.4232T>C (p.Ile1411Thr) c.4304T>C (p.Ile1435Thr) | |
| 3 | g.38556517A>T | CA352145373 | SCN5A | c.4358T>A (p.Ile1453Asn) c.4361T>A (p.Ile1454Asn) c.4307T>A (p.Ile1436Asn) c.4199T>A (p.Ile1400Asn) c.4232T>A (p.Ile1411Asn) c.4304T>A (p.Ile1435Asn) | |
| 3 | g.38556518T>A | CA352145374 | SCN5A | c.4357A>T (p.Ile1453Phe) c.4360A>T (p.Ile1454Phe) c.4306A>T (p.Ile1436Phe) c.4198A>T (p.Ile1400Phe) c.4231A>T (p.Ile1411Phe) c.4303A>T (p.Ile1435Phe) | |
| 3 | g.38556518T>C | CA352145375 | SCN5A | c.4357A>G (p.Ile1453Val) c.4360A>G (p.Ile1454Val) c.4306A>G (p.Ile1436Val) c.4198A>G (p.Ile1400Val) c.4231A>G (p.Ile1411Val) c.4303A>G (p.Ile1435Val) | ClinVar |
| 3 | g.38556518T>G | CA352145376 | SCN5A | c.4357A>C (p.Ile1453Leu) c.4360A>C (p.Ile1454Leu) c.4306A>C (p.Ile1436Leu) c.4198A>C (p.Ile1400Leu) c.4231A>C (p.Ile1411Leu) c.4303A>C (p.Ile1435Leu) | |
| 3 | g.38556519G>A | CA72943339 | SCN5A | c.4356C>T (p.Phe1452=) c.4359C>T (p.Phe1453=) c.4305C>T (p.Phe1435=) c.4197C>T (p.Phe1399=) c.4230C>T (p.Phe1410=) c.4302C>T (p.Phe1434=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38556519G>C | CA352145378 | SCN5A | c.4356C>G (p.Phe1452Leu) c.4359C>G (p.Phe1453Leu) c.4305C>G (p.Phe1435Leu) c.4197C>G (p.Phe1399Leu) c.4230C>G (p.Phe1410Leu) c.4302C>G (p.Phe1434Leu) | |
| 3 | g.38556519G= | CA1358563474 | SCN5A | c.4356C= (p.Phe1452=) c.4359C= (p.Phe1453=) c.4305C= (p.Phe1435=) c.4197C= (p.Phe1399=) c.4230C= (p.Phe1410=) c.4302C= (p.Phe1434=) | |
| 3 | g.38556519G>T | CA352145377 | SCN5A | c.4356C>A (p.Phe1452Leu) c.4359C>A (p.Phe1453Leu) c.4305C>A (p.Phe1435Leu) c.4197C>A (p.Phe1399Leu) c.4230C>A (p.Phe1410Leu) c.4302C>A (p.Phe1434Leu) | |
| 3 | g.38556520A>C | CA352145379 | SCN5A | c.4355T>G (p.Phe1452Cys) c.4358T>G (p.Phe1453Cys) c.4304T>G (p.Phe1435Cys) c.4196T>G (p.Phe1399Cys) c.4229T>G (p.Phe1410Cys) c.4301T>G (p.Phe1434Cys) | |
| 3 | g.38556520A>G | CA352145380 | SCN5A | c.4355T>C (p.Phe1452Ser) c.4358T>C (p.Phe1453Ser) c.4304T>C (p.Phe1435Ser) c.4196T>C (p.Phe1399Ser) c.4229T>C (p.Phe1410Ser) c.4301T>C (p.Phe1434Ser) | gnomAD v4 |
| 3 | g.38556520A>T | CA352145381 | SCN5A | c.4355T>A (p.Phe1452Tyr) c.4358T>A (p.Phe1453Tyr) c.4304T>A (p.Phe1435Tyr) c.4196T>A (p.Phe1399Tyr) c.4229T>A (p.Phe1410Tyr) c.4301T>A (p.Phe1434Tyr) | |
| 3 | g.38556521A>C | CA352145382 | SCN5A | c.4354T>G (p.Phe1452Val) c.4357T>G (p.Phe1453Val) c.4303T>G (p.Phe1435Val) c.4195T>G (p.Phe1399Val) c.4228T>G (p.Phe1410Val) c.4300T>G (p.Phe1434Val) | |
| 3 | g.38556521A>G | CA352145383 | SCN5A | c.4354T>C (p.Phe1452Leu) c.4357T>C (p.Phe1453Leu) c.4303T>C (p.Phe1435Leu) c.4195T>C (p.Phe1399Leu) c.4228T>C (p.Phe1410Leu) c.4300T>C (p.Phe1434Leu) | |
| 3 | g.38556521A>T | CA352145385 | SCN5A | c.4354T>A (p.Phe1452Ile) c.4357T>A (p.Phe1453Ile) c.4303T>A (p.Phe1435Ile) c.4195T>A (p.Phe1399Ile) c.4228T>A (p.Phe1410Ile) c.4300T>A (p.Phe1434Ile) | |
| 3 | g.38556522A>C | CA352145388 | SCN5A | c.4353T>G (p.Ile1451Met) c.4356T>G (p.Ile1452Met) c.4302T>G (p.Ile1434Met) c.4194T>G (p.Ile1398Met) c.4227T>G (p.Ile1409Met) c.4299T>G (p.Ile1433Met) | |
| 3 | g.38556522A>G | CA433136105 | SCN5A | c.4353T>C (p.Ile1451=) c.4356T>C (p.Ile1452=) c.4302T>C (p.Ile1434=) c.4194T>C (p.Ile1398=) c.4227T>C (p.Ile1409=) c.4299T>C (p.Ile1433=) | |
| 3 | g.38556522A>T | CA433136106 | SCN5A | c.4353T>A (p.Ile1451=) c.4356T>A (p.Ile1452=) c.4302T>A (p.Ile1434=) c.4194T>A (p.Ile1398=) c.4227T>A (p.Ile1409=) c.4299T>A (p.Ile1433=) | |
| 3 | g.38556523A>C | CA352145389 | SCN5A | c.4352T>G (p.Ile1451Ser) c.4355T>G (p.Ile1452Ser) c.4301T>G (p.Ile1434Ser) c.4193T>G (p.Ile1398Ser) c.4226T>G (p.Ile1409Ser) c.4298T>G (p.Ile1433Ser) | |
| 3 | g.38556523A>G | CA352145390 | SCN5A | c.4352T>C (p.Ile1451Thr) c.4355T>C (p.Ile1452Thr) c.4301T>C (p.Ile1434Thr) c.4193T>C (p.Ile1398Thr) c.4226T>C (p.Ile1409Thr) c.4298T>C (p.Ile1433Thr) | ClinVar |
| 3 | g.38556523A>T | CA352145391 | SCN5A | c.4352T>A (p.Ile1451Asn) c.4355T>A (p.Ile1452Asn) c.4301T>A (p.Ile1434Asn) c.4193T>A (p.Ile1398Asn) c.4226T>A (p.Ile1409Asn) c.4298T>A (p.Ile1433Asn) | |
| 3 | g.38556524T>A | CA352145394 | SCN5A | c.4351A>T (p.Ile1451Phe) c.4354A>T (p.Ile1452Phe) c.4300A>T (p.Ile1434Phe) c.4192A>T (p.Ile1398Phe) c.4225A>T (p.Ile1409Phe) c.4297A>T (p.Ile1433Phe) | |
| 3 | g.38556524T>C | CA352145396 | SCN5A | c.4351A>G (p.Ile1451Val) c.4354A>G (p.Ile1452Val) c.4300A>G (p.Ile1434Val) c.4192A>G (p.Ile1398Val) c.4225A>G (p.Ile1409Val) c.4297A>G (p.Ile1433Val) | |
| 3 | g.38556524T>G | CA352145398 | SCN5A | c.4351A>C (p.Ile1451Leu) c.4354A>C (p.Ile1452Leu) c.4300A>C (p.Ile1434Leu) c.4192A>C (p.Ile1398Leu) c.4225A>C (p.Ile1409Leu) c.4297A>C (p.Ile1433Leu) | |
| 3 | g.38556525G>A | CA433136115 | SCN5A | c.4350C>T (p.Val1450=) c.4353C>T (p.Val1451=) c.4299C>T (p.Val1433=) c.4191C>T (p.Val1397=) c.4224C>T (p.Val1408=) c.4296C>T (p.Val1432=) | |
| 3 | g.38556525G>C | CA433136114 | SCN5A | c.4350C>G (p.Val1450=) c.4353C>G (p.Val1451=) c.4299C>G (p.Val1433=) c.4191C>G (p.Val1397=) c.4224C>G (p.Val1408=) c.4296C>G (p.Val1432=) | ClinVar dbSNP |
| 3 | g.38556525G>T | CA433136113 | SCN5A | c.4350C>A (p.Val1450=) c.4353C>A (p.Val1451=) c.4299C>A (p.Val1433=) c.4191C>A (p.Val1397=) c.4224C>A (p.Val1408=) c.4296C>A (p.Val1432=) | COSMIC COSMIC COSMIC |
| 3 | g.38556526A= | CA1358563476 | SCN5A | c.4349T= (p.Val1450=) c.4352T= (p.Val1451=) c.4298T= (p.Val1433=) c.4190T= (p.Val1397=) c.4223T= (p.Val1408=) c.4295T= (p.Val1432=) | |
| 3 | g.38556526A>C | CA352145405 | SCN5A | c.4349T>G (p.Val1450Gly) c.4352T>G (p.Val1451Gly) c.4298T>G (p.Val1433Gly) c.4190T>G (p.Val1397Gly) c.4223T>G (p.Val1408Gly) c.4295T>G (p.Val1432Gly) | |
| 3 | g.38556526A>G | CA352145403 | SCN5A | c.4349T>C (p.Val1450Ala) c.4352T>C (p.Val1451Ala) c.4298T>C (p.Val1433Ala) c.4190T>C (p.Val1397Ala) c.4223T>C (p.Val1408Ala) c.4295T>C (p.Val1432Ala) | |
| 3 | g.38556526A>T | CA018169 | SCN5A | c.4349T>A (p.Val1450Asp) c.4352T>A (p.Val1451Asp) c.4298T>A (p.Val1433Asp) c.4190T>A (p.Val1397Asp) c.4223T>A (p.Val1408Asp) c.4295T>A (p.Val1432Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38556527C>A | CA352145408 | SCN5A | c.4348G>T (p.Val1450Phe) c.4351G>T (p.Val1451Phe) c.4297G>T (p.Val1433Phe) c.4189G>T (p.Val1397Phe) c.4222G>T (p.Val1408Phe) c.4294G>T (p.Val1432Phe) | |
| 3 | g.38556527C= | CA1358563479 | SCN5A | c.4348G= (p.Val1450=) c.4351G= (p.Val1451=) c.4297G= (p.Val1433=) c.4189G= (p.Val1397=) c.4222G= (p.Val1408=) c.4294G= (p.Val1432=) | |
| 3 | g.38556527C>G | CA10576614 | SCN5A | c.4348G>C (p.Val1450Leu) c.4351G>C (p.Val1451Leu) c.4297G>C (p.Val1433Leu) c.4189G>C (p.Val1397Leu) c.4222G>C (p.Val1408Leu) c.4294G>C (p.Val1432Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38556527C>T | CA352145411 | SCN5A | c.4348G>A (p.Val1450Ile) c.4351G>A (p.Val1451Ile) c.4297G>A (p.Val1433Ile) c.4189G>A (p.Val1397Ile) c.4222G>A (p.Val1408Ile) c.4294G>A (p.Val1432Ile) | |
| 3 | g.38556528A>C | CA352145413 | SCN5A | c.4347T>G (p.Phe1449Leu) c.4350T>G (p.Phe1450Leu) c.4296T>G (p.Phe1432Leu) c.4188T>G (p.Phe1396Leu) c.4221T>G (p.Phe1407Leu) c.4293T>G (p.Phe1431Leu) | |
| 3 | g.38556528A>G | CA433136122 | SCN5A | c.4347T>C (p.Phe1449=) c.4350T>C (p.Phe1450=) c.4296T>C (p.Phe1432=) c.4188T>C (p.Phe1396=) c.4221T>C (p.Phe1407=) c.4293T>C (p.Phe1431=) | ClinVar dbSNP |
| 3 | g.38556528A>T | CA352145415 | SCN5A | c.4347T>A (p.Phe1449Leu) c.4350T>A (p.Phe1450Leu) c.4296T>A (p.Phe1432Leu) c.4188T>A (p.Phe1396Leu) c.4221T>A (p.Phe1407Leu) c.4293T>A (p.Phe1431Leu) | |
| 3 | g.38556529A>C | CA352145417 | SCN5A | c.4346T>G (p.Phe1449Cys) c.4349T>G (p.Phe1450Cys) c.4295T>G (p.Phe1432Cys) c.4187T>G (p.Phe1396Cys) c.4220T>G (p.Phe1407Cys) c.4292T>G (p.Phe1431Cys) | |
| 3 | g.38556529A>G | CA352145418 | SCN5A | c.4346T>C (p.Phe1449Ser) c.4349T>C (p.Phe1450Ser) c.4295T>C (p.Phe1432Ser) c.4187T>C (p.Phe1396Ser) c.4220T>C (p.Phe1407Ser) c.4292T>C (p.Phe1431Ser) | |
| 3 | g.38556529A>T | CA352145419 | SCN5A | c.4346T>A (p.Phe1449Tyr) c.4349T>A (p.Phe1450Tyr) c.4295T>A (p.Phe1432Tyr) c.4187T>A (p.Phe1396Tyr) c.4220T>A (p.Phe1407Tyr) c.4292T>A (p.Phe1431Tyr) | |
| 3 | g.38556530A>C | CA352145420 | SCN5A | c.4345T>G (p.Phe1449Val) c.4348T>G (p.Phe1450Val) c.4294T>G (p.Phe1432Val) c.4186T>G (p.Phe1396Val) c.4219T>G (p.Phe1407Val) c.4291T>G (p.Phe1431Val) | |
| 3 | g.38556530A>G | CA352145421 | SCN5A | c.4345T>C (p.Phe1449Leu) c.4348T>C (p.Phe1450Leu) c.4294T>C (p.Phe1432Leu) c.4186T>C (p.Phe1396Leu) c.4219T>C (p.Phe1407Leu) c.4291T>C (p.Phe1431Leu) | |
| 3 | g.38556530A>T | CA352145422 | SCN5A | c.4345T>A (p.Phe1449Ile) c.4348T>A (p.Phe1450Ile) c.4294T>A (p.Phe1432Ile) c.4186T>A (p.Phe1396Ile) c.4219T>A (p.Phe1407Ile) c.4291T>A (p.Phe1431Ile) | |
| 3 | g.38556531A>C | CA352145423 | SCN5A | c.4344T>G (p.Tyr1448Ter) c.4347T>G (p.Tyr1449Ter) c.4293T>G (p.Tyr1431Ter) c.4185T>G (p.Tyr1395Ter) c.4218T>G (p.Tyr1406Ter) c.4290T>G (p.Tyr1430Ter) | |
| 3 | g.38556531A>G | CA433136127 | SCN5A | c.4344T>C (p.Tyr1448=) c.4347T>C (p.Tyr1449=) c.4293T>C (p.Tyr1431=) c.4185T>C (p.Tyr1395=) c.4218T>C (p.Tyr1406=) c.4290T>C (p.Tyr1430=) | |
| 3 | g.38556531A>T | CA352145424 | SCN5A | c.4344T>A (p.Tyr1448Ter) c.4347T>A (p.Tyr1449Ter) c.4293T>A (p.Tyr1431Ter) c.4185T>A (p.Tyr1395Ter) c.4218T>A (p.Tyr1406Ter) c.4290T>A (p.Tyr1430Ter) | |
| 3 | g.38556532T>A | CA352145426 | SCN5A | c.4343A>T (p.Tyr1448Phe) c.4346A>T (p.Tyr1449Phe) c.4292A>T (p.Tyr1431Phe) c.4184A>T (p.Tyr1395Phe) c.4217A>T (p.Tyr1406Phe) c.4289A>T (p.Tyr1430Phe) | ClinVar dbSNP |
| 3 | g.38556532T>C | CA018163 | SCN5A | c.4343A>G (p.Tyr1448Cys) c.4346A>G (p.Tyr1449Cys) c.4292A>G (p.Tyr1431Cys) c.4184A>G (p.Tyr1395Cys) c.4217A>G (p.Tyr1406Cys) c.4289A>G (p.Tyr1430Cys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38556532T>G | CA352145425 | SCN5A | c.4343A>C (p.Tyr1448Ser) c.4346A>C (p.Tyr1449Ser) c.4292A>C (p.Tyr1431Ser) c.4184A>C (p.Tyr1395Ser) c.4217A>C (p.Tyr1406Ser) c.4289A>C (p.Tyr1430Ser) | ClinVar |
| 3 | g.38556532T= | CA1358563482 | SCN5A | c.4343A= (p.Tyr1448=) c.4346A= (p.Tyr1449=) c.4292A= (p.Tyr1431=) c.4184A= (p.Tyr1395=) c.4217A= (p.Tyr1406=) c.4289A= (p.Tyr1430=) | |
| 3 | g.38556533A>C | CA352145427 | SCN5A | c.4342T>G (p.Tyr1448Asp) c.4345T>G (p.Tyr1449Asp) c.4291T>G (p.Tyr1431Asp) c.4183T>G (p.Tyr1395Asp) c.4216T>G (p.Tyr1406Asp) c.4288T>G (p.Tyr1430Asp) | |
| 3 | g.38556533A>G | CA352145428 | SCN5A | c.4342T>C (p.Tyr1448His) c.4345T>C (p.Tyr1449His) c.4291T>C (p.Tyr1431His) c.4183T>C (p.Tyr1395His) c.4216T>C (p.Tyr1406His) c.4288T>C (p.Tyr1430His) | |
| 3 | g.38556533A>T | CA352145429 | SCN5A | c.4342T>A (p.Tyr1448Asn) c.4345T>A (p.Tyr1449Asn) c.4291T>A (p.Tyr1431Asn) c.4183T>A (p.Tyr1395Asn) c.4216T>A (p.Tyr1406Asn) c.4288T>A (p.Tyr1430Asn) | |
| 3 | g.38556534G>A | CA433136131 | SCN5A | c.4341C>T (p.Ile1447=) c.4344C>T (p.Ile1448=) c.4290C>T (p.Ile1430=) c.4182C>T (p.Ile1394=) c.4215C>T (p.Ile1405=) c.4287C>T (p.Ile1429=) | |
| 3 | g.38556534G>C | CA352145430 | SCN5A | c.4341C>G (p.Ile1447Met) c.4344C>G (p.Ile1448Met) c.4290C>G (p.Ile1430Met) c.4182C>G (p.Ile1394Met) c.4215C>G (p.Ile1405Met) c.4287C>G (p.Ile1429Met) | |
| 3 | g.38556534G>T | CA433136132 | SCN5A | c.4341C>A (p.Ile1447=) c.4344C>A (p.Ile1448=) c.4290C>A (p.Ile1430=) c.4182C>A (p.Ile1394=) c.4215C>A (p.Ile1405=) c.4287C>A (p.Ile1429=) | |
| 3 | g.38556535A= | CA1358563487 | SCN5A | c.4340T= (p.Ile1447=) c.4343T= (p.Ile1448=) c.4289T= (p.Ile1430=) c.4181T= (p.Ile1394=) c.4214T= (p.Ile1405=) c.4286T= (p.Ile1429=) | |
| 3 | g.38556535A>C | CA352145431 | SCN5A | c.4340T>G (p.Ile1447Ser) c.4343T>G (p.Ile1448Ser) c.4289T>G (p.Ile1430Ser) c.4181T>G (p.Ile1394Ser) c.4214T>G (p.Ile1405Ser) c.4286T>G (p.Ile1429Ser) | |
| 3 | g.38556535A>G | CA018157 | SCN5A | c.4340T>C (p.Ile1447Thr) c.4343T>C (p.Ile1448Thr) c.4289T>C (p.Ile1430Thr) c.4181T>C (p.Ile1394Thr) c.4214T>C (p.Ile1405Thr) c.4286T>C (p.Ile1429Thr) | ClinVar dbSNP |
| 3 | g.38556535A>T | CA352145432 | SCN5A | c.4340T>A (p.Ile1447Asn) c.4343T>A (p.Ile1448Asn) c.4289T>A (p.Ile1430Asn) c.4181T>A (p.Ile1394Asn) c.4214T>A (p.Ile1405Asn) c.4286T>A (p.Ile1429Asn) | gnomAD v4 |