| 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) |