Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38560380_38560382del | CA542615541 | SCN5A | c.4012_4014del (p.Leu1338del) c.4015_4017del (p.Leu1339del) c.3853_3855del (p.Leu1285del) c.3886_3888del (p.Leu1296del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38560380G>A | CA352147488 | SCN5A | c.4009C>T (p.Leu1337Phe) c.4012C>T (p.Leu1338Phe) c.3850C>T (p.Leu1284Phe) c.3883C>T (p.Leu1295Phe) | gnomAD v4 |
3 | g.38560380G>C | CA017753 | SCN5A | c.4009C>G (p.Leu1337Val) c.4012C>G (p.Leu1338Val) c.3850C>G (p.Leu1284Val) c.3883C>G (p.Leu1295Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38560380G= | CA1358565754 | SCN5A | c.4009C= (p.Leu1337=) c.4012C= (p.Leu1338=) c.3850C= (p.Leu1284=) c.3883C= (p.Leu1295=) | |
3 | g.38560380G>T | CA352147487 | SCN5A | c.4009C>A (p.Leu1337Ile) c.4012C>A (p.Leu1338Ile) c.3850C>A (p.Leu1284Ile) c.3883C>A (p.Leu1295Ile) | COSMIC |
3 | g.38560381G>A | CA433332487 | SCN5A | c.4008C>T (p.Val1336=) c.4011C>T (p.Val1337=) c.3849C>T (p.Val1283=) c.3882C>T (p.Val1294=) | gnomAD v4 |
3 | g.38560381G>C | CA433332488 | SCN5A | c.4008C>G (p.Val1336=) c.4011C>G (p.Val1337=) c.3849C>G (p.Val1283=) c.3882C>G (p.Val1294=) | gnomAD v4 |
3 | g.38560381G>T | CA433332489 | SCN5A | c.4008C>A (p.Val1336=) c.4011C>A (p.Val1337=) c.3849C>A (p.Val1283=) c.3882C>A (p.Val1294=) | |
3 | g.38560382A>C | CA352147490 | SCN5A | c.4007T>G (p.Val1336Gly) c.4010T>G (p.Val1337Gly) c.3848T>G (p.Val1283Gly) c.3881T>G (p.Val1294Gly) | |
3 | g.38560382A>G | CA352147492 | SCN5A | c.4007T>C (p.Val1336Ala) c.4010T>C (p.Val1337Ala) c.3848T>C (p.Val1283Ala) c.3881T>C (p.Val1294Ala) | |
3 | g.38560382A>T | CA352147494 | SCN5A | c.4007T>A (p.Val1336Asp) c.4010T>A (p.Val1337Asp) c.3848T>A (p.Val1283Asp) c.3881T>A (p.Val1294Asp) | |
3 | g.38560383C>A | CA352147501 | SCN5A | c.4006G>T (p.Val1336Phe) c.4009G>T (p.Val1337Phe) c.3847G>T (p.Val1283Phe) c.3880G>T (p.Val1294Phe) | |
3 | g.38560383C= | CA1358565755 | SCN5A | c.4006G= (p.Val1336=) c.4009G= (p.Val1337=) c.3847G= (p.Val1283=) c.3880G= (p.Val1294=) | |
3 | g.38560383C>G | CA352147498 | SCN5A | c.4006G>C (p.Val1336Leu) c.4009G>C (p.Val1337Leu) c.3847G>C (p.Val1283Leu) c.3880G>C (p.Val1294Leu) | |
3 | g.38560383C>T | CA352147496 | SCN5A | c.4006G>A (p.Val1336Ile) c.4009G>A (p.Val1337Ile) c.3847G>A (p.Val1283Ile) c.3880G>A (p.Val1294Ile) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38560384G>A | CA062720 | SCN5A | c.4005C>T (p.Asn1335=) c.4008C>T (p.Asn1336=) c.3846C>T (p.Asn1282=) c.3879C>T (p.Asn1293=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38560384G>C | CA352147504 | SCN5A | c.4005C>G (p.Asn1335Lys) c.4008C>G (p.Asn1336Lys) c.3846C>G (p.Asn1282Lys) c.3879C>G (p.Asn1293Lys) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38560384G= | CA1358565756 | SCN5A | c.4005C= (p.Asn1335=) c.4008C= (p.Asn1336=) c.3846C= (p.Asn1282=) c.3879C= (p.Asn1293=) | |
3 | g.38560384G>T | CA352147506 | SCN5A | c.4005C>A (p.Asn1335Lys) c.4008C>A (p.Asn1336Lys) c.3846C>A (p.Asn1282Lys) c.3879C>A (p.Asn1293Lys) | |
3 | g.38560385T>A | CA352147508 | SCN5A | c.4004A>T (p.Asn1335Ile) c.4007A>T (p.Asn1336Ile) c.3845A>T (p.Asn1282Ile) c.3878A>T (p.Asn1293Ile) | |
3 | g.38560385T>C | CA352147510 | SCN5A | c.4004A>G (p.Asn1335Ser) c.4007A>G (p.Asn1336Ser) c.3845A>G (p.Asn1282Ser) c.3878A>G (p.Asn1293Ser) | |
3 | g.38560385T>G | CA352147512 | SCN5A | c.4004A>C (p.Asn1335Thr) c.4007A>C (p.Asn1336Thr) c.3845A>C (p.Asn1282Thr) c.3878A>C (p.Asn1293Thr) | |
3 | g.38560386T>A | CA352147519 | SCN5A | c.4003A>T (p.Asn1335Tyr) c.4006A>T (p.Asn1336Tyr) c.3844A>T (p.Asn1282Tyr) c.3877A>T (p.Asn1293Tyr) | |
3 | g.38560386T>C | CA352147513 | SCN5A | c.4003A>G (p.Asn1335Asp) c.4006A>G (p.Asn1336Asp) c.3844A>G (p.Asn1282Asp) c.3877A>G (p.Asn1293Asp) | |
3 | g.38560386T>G | CA352147515 | SCN5A | c.4003A>C (p.Asn1335His) c.4006A>C (p.Asn1336His) c.3844A>C (p.Asn1282His) c.3877A>C (p.Asn1293His) | |
3 | g.38560387C>A | CA352147521 | SCN5A | c.4002G>T (p.Met1334Ile) c.4005G>T (p.Met1335Ile) c.3843G>T (p.Met1281Ile) c.3876G>T (p.Met1292Ile) | |
3 | g.38560387C>G | CA352147522 | SCN5A | c.4002G>C (p.Met1334Ile) c.4005G>C (p.Met1335Ile) c.3843G>C (p.Met1281Ile) c.3876G>C (p.Met1292Ile) | |
3 | g.38560387C>T | CA352147524 | SCN5A | c.4002G>A (p.Met1334Ile) c.4005G>A (p.Met1335Ile) c.3843G>A (p.Met1281Ile) c.3876G>A (p.Met1292Ile) | COSMIC COSMIC COSMIC |
3 | g.38560388A= | CA1358565757 | SCN5A | c.4001T= (p.Met1334=) c.4004T= (p.Met1335=) c.3842T= (p.Met1281=) c.3875T= (p.Met1292=) | |
3 | g.38560388A>C | CA352147527 | SCN5A | c.4001T>G (p.Met1334Arg) c.4004T>G (p.Met1335Arg) c.3842T>G (p.Met1281Arg) c.3875T>G (p.Met1292Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38560388A>G | CA352147529 | SCN5A | c.4001T>C (p.Met1334Thr) c.4004T>C (p.Met1335Thr) c.3842T>C (p.Met1281Thr) c.3875T>C (p.Met1292Thr) | |
3 | g.38560388A>T | CA352147530 | SCN5A | c.4001T>A (p.Met1334Lys) c.4004T>A (p.Met1335Lys) c.3842T>A (p.Met1281Lys) c.3875T>A (p.Met1292Lys) | |
3 | g.38560389T>A | CA352147532 | SCN5A | c.4000A>T (p.Met1334Leu) c.4003A>T (p.Met1335Leu) c.3841A>T (p.Met1281Leu) c.3874A>T (p.Met1292Leu) | |
3 | g.38560389T>C | CA72944913 | SCN5A | c.4000A>G (p.Met1334Val) c.4003A>G (p.Met1335Val) c.3841A>G (p.Met1281Val) c.3874A>G (p.Met1292Val) | ClinVar dbSNP gnomAD v4 |
3 | g.38560389T>G | CA352147534 | SCN5A | c.4000A>C (p.Met1334Leu) c.4003A>C (p.Met1335Leu) c.3841A>C (p.Met1281Leu) c.3874A>C (p.Met1292Leu) | gnomAD v4 |
3 | g.38560389T= | CA1358565758 | SCN5A | c.4000A= (p.Met1334=) c.4003A= (p.Met1335=) c.3841A= (p.Met1281=) c.3874A= (p.Met1292=) | |
3 | g.38560390G>A | CA433332405 | SCN5A | c.3999C>T (p.Ile1333=) c.4002C>T (p.Ile1334=) c.3840C>T (p.Ile1280=) c.3873C>T (p.Ile1291=) | ClinVar dbSNP |
3 | g.38560390G>C | CA352147536 | SCN5A | c.3999C>G (p.Ile1333Met) c.4002C>G (p.Ile1334Met) c.3840C>G (p.Ile1280Met) c.3873C>G (p.Ile1291Met) | |
3 | g.38560390G= | CA1358565759 | SCN5A | c.3999C= (p.Ile1333=) c.4002C= (p.Ile1334=) c.3840C= (p.Ile1280=) c.3873C= (p.Ile1291=) | |
3 | g.38560390G>T | CA433332407 | SCN5A | c.3999C>A (p.Ile1333=) c.4002C>A (p.Ile1334=) c.3840C>A (p.Ile1280=) c.3873C>A (p.Ile1291=) | |
3 | g.38560390_38560391dup | CA2665111488 | SCN5A | c.3998_3999dup (p.Met1334SerfsTer2) c.4001_4002dup (p.Met1335SerfsTer2) c.3839_3840dup (p.Met1281SerfsTer2) c.3872_3873dup (p.Met1292SerfsTer2) | gnomAD v4 |
3 | g.38560391A>C | CA352147540 | SCN5A | c.3998T>G (p.Ile1333Ser) c.4001T>G (p.Ile1334Ser) c.3839T>G (p.Ile1280Ser) c.3872T>G (p.Ile1291Ser) | |
3 | g.38560391A>G | CA352147541 | SCN5A | c.3998T>C (p.Ile1333Thr) c.4001T>C (p.Ile1334Thr) c.3839T>C (p.Ile1280Thr) c.3872T>C (p.Ile1291Thr) | |
3 | g.38560391A>T | CA352147542 | SCN5A | c.3998T>A (p.Ile1333Asn) c.4001T>A (p.Ile1334Asn) c.3839T>A (p.Ile1280Asn) c.3872T>A (p.Ile1291Asn) | |
3 | g.38560392T>A | CA352147545 | SCN5A | c.3997A>T (p.Ile1333Phe) c.4000A>T (p.Ile1334Phe) c.3838A>T (p.Ile1280Phe) c.3871A>T (p.Ile1291Phe) | |
3 | g.38560392T>C | CA017738 | SCN5A | c.3997A>G (p.Ile1333Val) c.4000A>G (p.Ile1334Val) c.3838A>G (p.Ile1280Val) c.3871A>G (p.Ile1291Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38560392T>G | CA352147546 | SCN5A | c.3997A>C (p.Ile1333Leu) c.4000A>C (p.Ile1334Leu) c.3838A>C (p.Ile1280Leu) c.3871A>C (p.Ile1291Leu) | gnomAD v4 |
3 | g.38560392T= | CA1358565760 | SCN5A | c.3997A= (p.Ile1333=) c.4000A= (p.Ile1334=) c.3838A= (p.Ile1280=) c.3871A= (p.Ile1291=) | |
3 | g.38560392_38560397delinsTGGACG | CA1358565761 | SCN5A | c.3992_3997delinsCGTCCA (p.Pro1331=) c.3995_4000delinsCGTCCA (p.Pro1332=) c.3833_3838delinsCGTCCA (p.Pro1278=) c.3866_3871delinsCGTCCA (p.Pro1289=) | |
3 | g.38560393G>A | CA433332411 | SCN5A | c.3996C>T (p.Ser1332=) c.3999C>T (p.Ser1333=) c.3837C>T (p.Ser1279=) c.3870C>T (p.Ser1290=) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |