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 |
|---|---|---|---|---|---|
| 2 | g.71611334T>A | CA426758747 | DYSF | c.1461T>A (p.Arg487=) c.678T>A (p.Arg226=) c.636T>A (p.Arg212=) c.3993T>A (p.Arg1331=) c.4047T>A (p.Arg1349=) c.3996T>A (p.Arg1332=) c.4044T>A (p.Arg1348=) c.4089T>A (p.Arg1363=) c.3954T>A (p.Arg1318=) c.4086T>A (p.Arg1362=) n.229T>A n.377T>A n.878T>A n.212T>A n.353T>A c.3951T>A (p.Arg1317=) n.4247T>A | |
| 2 | g.71611334T>C | CA426758749 | DYSF | c.1461T>C (p.Arg487=) c.678T>C (p.Arg226=) c.636T>C (p.Arg212=) c.3993T>C (p.Arg1331=) c.4047T>C (p.Arg1349=) c.3996T>C (p.Arg1332=) c.4044T>C (p.Arg1348=) c.4089T>C (p.Arg1363=) c.3954T>C (p.Arg1318=) c.4086T>C (p.Arg1362=) n.229T>C n.377T>C n.878T>C n.212T>C n.353T>C c.3951T>C (p.Arg1317=) n.4247T>C | |
| 2 | g.71611334T>G | CA426758751 | DYSF | c.1461T>G (p.Arg487=) c.678T>G (p.Arg226=) c.636T>G (p.Arg212=) c.3993T>G (p.Arg1331=) c.4047T>G (p.Arg1349=) c.3996T>G (p.Arg1332=) c.4044T>G (p.Arg1348=) c.4089T>G (p.Arg1363=) c.3954T>G (p.Arg1318=) c.4086T>G (p.Arg1362=) n.229T>G n.377T>G n.878T>G n.212T>G n.353T>G c.3951T>G (p.Arg1317=) n.4247T>G | |
| 2 | g.71611335A= | CA1260124043 | DYSF | c.1462A= (p.Thr488=) c.679A= (p.Thr227=) c.637A= (p.Thr213=) c.3994A= (p.Thr1332=) c.4048A= (p.Thr1350=) c.3997A= (p.Thr1333=) c.4045A= (p.Thr1349=) c.4090A= (p.Thr1364=) c.3955A= (p.Thr1319=) c.4087A= (p.Thr1363=) n.230A= n.378A= n.879A= n.213A= n.354A= c.3952A= (p.Thr1318=) n.4248A= | |
| 2 | g.71611335A>C | CA347228344 | DYSF | c.1462A>C (p.Thr488Pro) c.679A>C (p.Thr227Pro) c.637A>C (p.Thr213Pro) c.3994A>C (p.Thr1332Pro) c.4048A>C (p.Thr1350Pro) c.3997A>C (p.Thr1333Pro) c.4045A>C (p.Thr1349Pro) c.4090A>C (p.Thr1364Pro) c.3955A>C (p.Thr1319Pro) c.4087A>C (p.Thr1363Pro) n.230A>C n.378A>C n.879A>C n.213A>C n.354A>C c.3952A>C (p.Thr1318Pro) n.4248A>C | dbSNP |
| 2 | g.71611335A>G | CA347228345 | DYSF | c.1462A>G (p.Thr488Ala) c.679A>G (p.Thr227Ala) c.637A>G (p.Thr213Ala) c.3994A>G (p.Thr1332Ala) c.4048A>G (p.Thr1350Ala) c.3997A>G (p.Thr1333Ala) c.4045A>G (p.Thr1349Ala) c.4090A>G (p.Thr1364Ala) c.3955A>G (p.Thr1319Ala) c.4087A>G (p.Thr1363Ala) n.230A>G n.378A>G n.879A>G n.213A>G n.354A>G c.3952A>G (p.Thr1318Ala) n.4248A>G | |
| 2 | g.71611335A>T | CA347228346 | DYSF | c.1462A>T (p.Thr488Ser) c.679A>T (p.Thr227Ser) c.637A>T (p.Thr213Ser) c.3994A>T (p.Thr1332Ser) c.4048A>T (p.Thr1350Ser) c.3997A>T (p.Thr1333Ser) c.4045A>T (p.Thr1349Ser) c.4090A>T (p.Thr1364Ser) c.3955A>T (p.Thr1319Ser) c.4087A>T (p.Thr1363Ser) n.230A>T n.378A>T n.879A>T n.213A>T n.354A>T c.3952A>T (p.Thr1318Ser) n.4248A>T | |
| 2 | g.71611336C>A | CA347228347 | DYSF | c.1463C>A (p.Thr488Asn) c.680C>A (p.Thr227Asn) c.638C>A (p.Thr213Asn) c.3995C>A (p.Thr1332Asn) c.4049C>A (p.Thr1350Asn) c.3998C>A (p.Thr1333Asn) c.4046C>A (p.Thr1349Asn) c.4091C>A (p.Thr1364Asn) c.3956C>A (p.Thr1319Asn) c.4088C>A (p.Thr1363Asn) n.231C>A n.379C>A n.880C>A n.214C>A n.355C>A c.3953C>A (p.Thr1318Asn) n.4249C>A | |
| 2 | g.71611336C>G | CA347228348 | DYSF | c.1463C>G (p.Thr488Ser) c.680C>G (p.Thr227Ser) c.638C>G (p.Thr213Ser) c.3995C>G (p.Thr1332Ser) c.4049C>G (p.Thr1350Ser) c.3998C>G (p.Thr1333Ser) c.4046C>G (p.Thr1349Ser) c.4091C>G (p.Thr1364Ser) c.3956C>G (p.Thr1319Ser) c.4088C>G (p.Thr1363Ser) n.231C>G n.379C>G n.880C>G n.214C>G n.355C>G c.3953C>G (p.Thr1318Ser) n.4249C>G | |
| 2 | g.71611336C>T | CA347228349 | DYSF | c.1463C>T (p.Thr488Ile) c.680C>T (p.Thr227Ile) c.638C>T (p.Thr213Ile) c.3995C>T (p.Thr1332Ile) c.4049C>T (p.Thr1350Ile) c.3998C>T (p.Thr1333Ile) c.4046C>T (p.Thr1349Ile) c.4091C>T (p.Thr1364Ile) c.3956C>T (p.Thr1319Ile) c.4088C>T (p.Thr1363Ile) n.231C>T n.379C>T n.880C>T n.214C>T n.355C>T c.3953C>T (p.Thr1318Ile) n.4249C>T | |
| 2 | g.71611337C>A | CA426758753 | DYSF | c.1464C>A (p.Thr488=) c.681C>A (p.Thr227=) c.639C>A (p.Thr213=) c.3996C>A (p.Thr1332=) c.4050C>A (p.Thr1350=) c.3999C>A (p.Thr1333=) c.4047C>A (p.Thr1349=) c.4092C>A (p.Thr1364=) c.3957C>A (p.Thr1319=) c.4089C>A (p.Thr1363=) n.232C>A n.380C>A n.881C>A n.215C>A n.356C>A c.3954C>A (p.Thr1318=) n.4250C>A | |
| 2 | g.71611337C= | CA1260124044 | DYSF | c.1464C= (p.Thr488=) c.681C= (p.Thr227=) c.639C= (p.Thr213=) c.3996C= (p.Thr1332=) c.4050C= (p.Thr1350=) c.3999C= (p.Thr1333=) c.4047C= (p.Thr1349=) c.4092C= (p.Thr1364=) c.3957C= (p.Thr1319=) c.4089C= (p.Thr1363=) n.232C= n.380C= n.881C= n.215C= n.356C= c.3954C= (p.Thr1318=) n.4250C= | |
| 2 | g.71611337C>G | CA426758754 | DYSF | c.1464C>G (p.Thr488=) c.681C>G (p.Thr227=) c.639C>G (p.Thr213=) c.3996C>G (p.Thr1332=) c.4050C>G (p.Thr1350=) c.3999C>G (p.Thr1333=) c.4047C>G (p.Thr1349=) c.4092C>G (p.Thr1364=) c.3957C>G (p.Thr1319=) c.4089C>G (p.Thr1363=) n.232C>G n.380C>G n.881C>G n.215C>G n.356C>G c.3954C>G (p.Thr1318=) n.4250C>G | |
| 2 | g.71611337C>T | CA1706850 | DYSF | c.1464C>T (p.Thr488=) c.681C>T (p.Thr227=) c.639C>T (p.Thr213=) c.3996C>T (p.Thr1332=) c.4050C>T (p.Thr1350=) c.3999C>T (p.Thr1333=) c.4047C>T (p.Thr1349=) c.4092C>T (p.Thr1364=) c.3957C>T (p.Thr1319=) c.4089C>T (p.Thr1363=) n.232C>T n.380C>T n.881C>T n.215C>T n.356C>T c.3954C>T (p.Thr1318=) n.4250C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71611337_71611341del | CA2659553223 | DYSF | c.1464_1468del (p.Ala489ArgfsTer?) c.681_685del (p.Ala228ArgfsTer?) c.639_643del (p.Ala214ArgfsTer?) c.3996_4000del (p.Ala1333ArgfsTer?) c.4050_4054del (p.Ala1351ArgfsTer?) c.3999_4003del (p.Ala1334ArgfsTer?) c.4047_4051del (p.Ala1350ArgfsTer?) c.4092_4096del (p.Ala1365ArgfsTer?) c.3957_3961del (p.Ala1320ArgfsTer?) c.4089_4093del (p.Ala1364ArgfsTer?) n.232_236del n.380_384del n.881_885del n.215_219del n.356_360del c.3954_3958del (p.Ala1319ArgfsTer?) n.4250_4254del | gnomAD v4 |
| 2 | g.71611338G>A | CA1706851 | DYSF | c.1465G>A (p.Ala489Thr) c.682G>A (p.Ala228Thr) c.640G>A (p.Ala214Thr) c.3997G>A (p.Ala1333Thr) c.4051G>A (p.Ala1351Thr) c.4000G>A (p.Ala1334Thr) c.4048G>A (p.Ala1350Thr) c.4093G>A (p.Ala1365Thr) c.3958G>A (p.Ala1320Thr) c.4090G>A (p.Ala1364Thr) n.233G>A n.381G>A n.882G>A n.216G>A n.357G>A c.3955G>A (p.Ala1319Thr) n.4251G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.71611338G>C | CA347228350 | DYSF | c.1465G>C (p.Ala489Pro) c.682G>C (p.Ala228Pro) c.640G>C (p.Ala214Pro) c.3997G>C (p.Ala1333Pro) c.4051G>C (p.Ala1351Pro) c.4000G>C (p.Ala1334Pro) c.4048G>C (p.Ala1350Pro) c.4093G>C (p.Ala1365Pro) c.3958G>C (p.Ala1320Pro) c.4090G>C (p.Ala1364Pro) n.233G>C n.381G>C n.882G>C n.216G>C n.357G>C c.3955G>C (p.Ala1319Pro) n.4251G>C | |
| 2 | g.71611338G= | CA1260124045 | DYSF | c.1465G= (p.Ala489=) c.682G= (p.Ala228=) c.640G= (p.Ala214=) c.3997G= (p.Ala1333=) c.4051G= (p.Ala1351=) c.4000G= (p.Ala1334=) c.4048G= (p.Ala1350=) c.4093G= (p.Ala1365=) c.3958G= (p.Ala1320=) c.4090G= (p.Ala1364=) n.233G= n.381G= n.882G= n.216G= n.357G= c.3955G= (p.Ala1319=) n.4251G= | |
| 2 | g.71611338G>T | CA347228351 | DYSF | c.1465G>T (p.Ala489Ser) c.682G>T (p.Ala228Ser) c.640G>T (p.Ala214Ser) c.3997G>T (p.Ala1333Ser) c.4051G>T (p.Ala1351Ser) c.4000G>T (p.Ala1334Ser) c.4048G>T (p.Ala1350Ser) c.4093G>T (p.Ala1365Ser) c.3958G>T (p.Ala1320Ser) c.4090G>T (p.Ala1364Ser) n.233G>T n.381G>T n.882G>T n.216G>T n.357G>T c.3955G>T (p.Ala1319Ser) n.4251G>T | |
| 2 | g.71611339C>A | CA347228352 | DYSF | c.1466C>A (p.Ala489Asp) c.683C>A (p.Ala228Asp) c.641C>A (p.Ala214Asp) c.3998C>A (p.Ala1333Asp) c.4052C>A (p.Ala1351Asp) c.4001C>A (p.Ala1334Asp) c.4049C>A (p.Ala1350Asp) c.4094C>A (p.Ala1365Asp) c.3959C>A (p.Ala1320Asp) c.4091C>A (p.Ala1364Asp) n.234C>A n.382C>A n.883C>A n.217C>A n.358C>A c.3956C>A (p.Ala1319Asp) n.4252C>A | |
| 2 | g.71611339C>G | CA347228354 | DYSF | c.1466C>G (p.Ala489Gly) c.683C>G (p.Ala228Gly) c.641C>G (p.Ala214Gly) c.3998C>G (p.Ala1333Gly) c.4052C>G (p.Ala1351Gly) c.4001C>G (p.Ala1334Gly) c.4049C>G (p.Ala1350Gly) c.4094C>G (p.Ala1365Gly) c.3959C>G (p.Ala1320Gly) c.4091C>G (p.Ala1364Gly) n.234C>G n.382C>G n.883C>G n.217C>G n.358C>G c.3956C>G (p.Ala1319Gly) n.4252C>G | |
| 2 | g.71611339C>T | CA347228353 | DYSF | c.1466C>T (p.Ala489Val) c.683C>T (p.Ala228Val) c.641C>T (p.Ala214Val) c.3998C>T (p.Ala1333Val) c.4052C>T (p.Ala1351Val) c.4001C>T (p.Ala1334Val) c.4049C>T (p.Ala1350Val) c.4094C>T (p.Ala1365Val) c.3959C>T (p.Ala1320Val) c.4091C>T (p.Ala1364Val) n.234C>T n.382C>T n.883C>T n.217C>T n.358C>T c.3956C>T (p.Ala1319Val) n.4252C>T | |
| 2 | g.71611340del | CA2580067817 | DYSF | c.1467del (p.Ile490SerfsTer11) c.684del (p.Ile229SerfsTer11) c.642del (p.Ile215SerfsTer11) c.3999del (p.Ile1334SerfsTer11) c.4053del (p.Ile1352SerfsTer11) c.4002del (p.Ile1335SerfsTer11) c.4050del (p.Ile1351SerfsTer11) c.4095del (p.Ile1366SerfsTer11) c.3960del (p.Ile1321SerfsTer11) c.4092del (p.Ile1365SerfsTer11) n.235del n.383del n.884del n.218del n.359del c.3957del (p.Ile1320SerfsTer11) n.4253del | ClinVar |
| 2 | g.71611340C>A | CA426758761 | DYSF | c.1467C>A (p.Ala489=) c.684C>A (p.Ala228=) c.642C>A (p.Ala214=) c.3999C>A (p.Ala1333=) c.4053C>A (p.Ala1351=) c.4002C>A (p.Ala1334=) c.4050C>A (p.Ala1350=) c.4095C>A (p.Ala1365=) c.3960C>A (p.Ala1320=) c.4092C>A (p.Ala1364=) n.235C>A n.383C>A n.884C>A n.218C>A n.359C>A c.3957C>A (p.Ala1319=) n.4253C>A | |
| 2 | g.71611340C= | CA1260124046 | DYSF | c.1467C= (p.Ala489=) c.684C= (p.Ala228=) c.642C= (p.Ala214=) c.3999C= (p.Ala1333=) c.4053C= (p.Ala1351=) c.4002C= (p.Ala1334=) c.4050C= (p.Ala1350=) c.4095C= (p.Ala1365=) c.3960C= (p.Ala1320=) c.4092C= (p.Ala1364=) n.235C= n.383C= n.884C= n.218C= n.359C= c.3957C= (p.Ala1319=) n.4253C= | |
| 2 | g.71611340C>G | CA49778693 | DYSF | c.1467C>G (p.Ala489=) c.684C>G (p.Ala228=) c.642C>G (p.Ala214=) c.3999C>G (p.Ala1333=) c.4053C>G (p.Ala1351=) c.4002C>G (p.Ala1334=) c.4050C>G (p.Ala1350=) c.4095C>G (p.Ala1365=) c.3960C>G (p.Ala1320=) c.4092C>G (p.Ala1364=) n.235C>G n.383C>G n.884C>G n.218C>G n.359C>G c.3957C>G (p.Ala1319=) n.4253C>G | dbSNP |
| 2 | g.71611340C>T | CA426758762 | DYSF | c.1467C>T (p.Ala489=) c.684C>T (p.Ala228=) c.642C>T (p.Ala214=) c.3999C>T (p.Ala1333=) c.4053C>T (p.Ala1351=) c.4002C>T (p.Ala1334=) c.4050C>T (p.Ala1350=) c.4095C>T (p.Ala1365=) c.3960C>T (p.Ala1320=) c.4092C>T (p.Ala1364=) n.235C>T n.383C>T n.884C>T n.218C>T n.359C>T c.3957C>T (p.Ala1319=) n.4253C>T | ClinVar dbSNP |
| 2 | g.71611341A= | CA1260124047 | DYSF | c.1468A= (p.Ile490=) c.685A= (p.Ile229=) c.643A= (p.Ile215=) c.4000A= (p.Ile1334=) c.4054A= (p.Ile1352=) c.4003A= (p.Ile1335=) c.4051A= (p.Ile1351=) c.4096A= (p.Ile1366=) c.3961A= (p.Ile1321=) c.4093A= (p.Ile1365=) n.236A= n.384A= n.885A= n.219A= n.360A= c.3958A= (p.Ile1320=) n.4254A= | |
| 2 | g.71611341A>C | CA347228355 | DYSF | c.1468A>C (p.Ile490Leu) c.685A>C (p.Ile229Leu) c.643A>C (p.Ile215Leu) c.4000A>C (p.Ile1334Leu) c.4054A>C (p.Ile1352Leu) c.4003A>C (p.Ile1335Leu) c.4051A>C (p.Ile1351Leu) c.4096A>C (p.Ile1366Leu) c.3961A>C (p.Ile1321Leu) c.4093A>C (p.Ile1365Leu) n.236A>C n.384A>C n.885A>C n.219A>C n.360A>C c.3958A>C (p.Ile1320Leu) n.4254A>C | |
| 2 | g.71611341A>G | CA1706852 | DYSF | c.1468A>G (p.Ile490Val) c.685A>G (p.Ile229Val) c.643A>G (p.Ile215Val) c.4000A>G (p.Ile1334Val) c.4054A>G (p.Ile1352Val) c.4003A>G (p.Ile1335Val) c.4051A>G (p.Ile1351Val) c.4096A>G (p.Ile1366Val) c.3961A>G (p.Ile1321Val) c.4093A>G (p.Ile1365Val) n.236A>G n.384A>G n.885A>G n.219A>G n.360A>G c.3958A>G (p.Ile1320Val) n.4254A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71611341A>T | CA347228356 | DYSF | c.1468A>T (p.Ile490Phe) c.685A>T (p.Ile229Phe) c.643A>T (p.Ile215Phe) c.4000A>T (p.Ile1334Phe) c.4054A>T (p.Ile1352Phe) c.4003A>T (p.Ile1335Phe) c.4051A>T (p.Ile1351Phe) c.4096A>T (p.Ile1366Phe) c.3961A>T (p.Ile1321Phe) c.4093A>T (p.Ile1365Phe) n.236A>T n.384A>T n.885A>T n.219A>T n.360A>T c.3958A>T (p.Ile1320Phe) n.4254A>T | |
| 2 | g.71611342T>A | CA347228357 | DYSF | c.1469T>A (p.Ile490Asn) c.686T>A (p.Ile229Asn) c.644T>A (p.Ile215Asn) c.4001T>A (p.Ile1334Asn) c.4055T>A (p.Ile1352Asn) c.4004T>A (p.Ile1335Asn) c.4052T>A (p.Ile1351Asn) c.4097T>A (p.Ile1366Asn) c.3962T>A (p.Ile1321Asn) c.4094T>A (p.Ile1365Asn) n.237T>A n.385T>A n.886T>A n.220T>A n.361T>A c.3959T>A (p.Ile1320Asn) n.4255T>A | |
| 2 | g.71611342T>C | CA347228358 | DYSF | c.1469T>C (p.Ile490Thr) c.686T>C (p.Ile229Thr) c.644T>C (p.Ile215Thr) c.4001T>C (p.Ile1334Thr) c.4055T>C (p.Ile1352Thr) c.4004T>C (p.Ile1335Thr) c.4052T>C (p.Ile1351Thr) c.4097T>C (p.Ile1366Thr) c.3962T>C (p.Ile1321Thr) c.4094T>C (p.Ile1365Thr) n.237T>C n.385T>C n.886T>C n.220T>C n.361T>C c.3959T>C (p.Ile1320Thr) n.4255T>C | gnomAD v4 |
| 2 | g.71611342T>G | CA347228359 | DYSF | c.1469T>G (p.Ile490Ser) c.686T>G (p.Ile229Ser) c.644T>G (p.Ile215Ser) c.4001T>G (p.Ile1334Ser) c.4055T>G (p.Ile1352Ser) c.4004T>G (p.Ile1335Ser) c.4052T>G (p.Ile1351Ser) c.4097T>G (p.Ile1366Ser) c.3962T>G (p.Ile1321Ser) c.4094T>G (p.Ile1365Ser) n.237T>G n.385T>G n.886T>G n.220T>G n.361T>G c.3959T>G (p.Ile1320Ser) n.4255T>G | |
| 2 | g.71611343C>A | CA426758770 | DYSF | c.1470C>A (p.Ile490=) c.687C>A (p.Ile229=) c.645C>A (p.Ile215=) c.4002C>A (p.Ile1334=) c.4056C>A (p.Ile1352=) c.4005C>A (p.Ile1335=) c.4053C>A (p.Ile1351=) c.4098C>A (p.Ile1366=) c.3963C>A (p.Ile1321=) c.4095C>A (p.Ile1365=) n.238C>A n.386C>A n.887C>A n.221C>A n.362C>A c.3960C>A (p.Ile1320=) n.4256C>A | |
| 2 | g.71611343C= | CA1260124048 | DYSF | c.1470C= (p.Ile490=) c.687C= (p.Ile229=) c.645C= (p.Ile215=) c.4002C= (p.Ile1334=) c.4056C= (p.Ile1352=) c.4005C= (p.Ile1335=) c.4053C= (p.Ile1351=) c.4098C= (p.Ile1366=) c.3963C= (p.Ile1321=) c.4095C= (p.Ile1365=) n.238C= n.386C= n.887C= n.221C= n.362C= c.3960C= (p.Ile1320=) n.4256C= | |
| 2 | g.71611343C>G | CA347228360 | DYSF | c.1470C>G (p.Ile490Met) c.687C>G (p.Ile229Met) c.645C>G (p.Ile215Met) c.4002C>G (p.Ile1334Met) c.4056C>G (p.Ile1352Met) c.4005C>G (p.Ile1335Met) c.4053C>G (p.Ile1351Met) c.4098C>G (p.Ile1366Met) c.3963C>G (p.Ile1321Met) c.4095C>G (p.Ile1365Met) n.238C>G n.386C>G n.887C>G n.221C>G n.362C>G c.3960C>G (p.Ile1320Met) n.4256C>G | gnomAD v4 |
| 2 | g.71611343C>T | CA1706853 | DYSF | c.1470C>T (p.Ile490=) c.687C>T (p.Ile229=) c.645C>T (p.Ile215=) c.4002C>T (p.Ile1334=) c.4056C>T (p.Ile1352=) c.4005C>T (p.Ile1335=) c.4053C>T (p.Ile1351=) c.4098C>T (p.Ile1366=) c.3963C>T (p.Ile1321=) c.4095C>T (p.Ile1365=) n.238C>T n.386C>T n.887C>T n.221C>T n.362C>T c.3960C>T (p.Ile1320=) n.4256C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 2 | g.71611344G>A | CA1706854 | DYSF | c.1471G>A (p.Glu491Lys) c.688G>A (p.Glu230Lys) c.646G>A (p.Glu216Lys) c.4003G>A (p.Glu1335Lys) c.4057G>A (p.Glu1353Lys) c.4006G>A (p.Glu1336Lys) c.4054G>A (p.Glu1352Lys) c.4099G>A (p.Glu1367Lys) c.3964G>A (p.Glu1322Lys) c.4096G>A (p.Glu1366Lys) n.239G>A n.387G>A n.888G>A n.222G>A n.363G>A c.3961G>A (p.Glu1321Lys) n.4257G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.71611344G>C | CA347228362 | DYSF | c.1471G>C (p.Glu491Gln) c.688G>C (p.Glu230Gln) c.646G>C (p.Glu216Gln) c.4003G>C (p.Glu1335Gln) c.4057G>C (p.Glu1353Gln) c.4006G>C (p.Glu1336Gln) c.4054G>C (p.Glu1352Gln) c.4099G>C (p.Glu1367Gln) c.3964G>C (p.Glu1322Gln) c.4096G>C (p.Glu1366Gln) n.239G>C n.387G>C n.888G>C n.222G>C n.363G>C c.3961G>C (p.Glu1321Gln) n.4257G>C | |
| 2 | g.71611344G= | CA1260124049 | DYSF | c.1471G= (p.Glu491=) c.688G= (p.Glu230=) c.646G= (p.Glu216=) c.4003G= (p.Glu1335=) c.4057G= (p.Glu1353=) c.4006G= (p.Glu1336=) c.4054G= (p.Glu1352=) c.4099G= (p.Glu1367=) c.3964G= (p.Glu1322=) c.4096G= (p.Glu1366=) n.239G= n.387G= n.888G= n.222G= n.363G= c.3961G= (p.Glu1321=) n.4257G= | |
| 2 | g.71611344G>T | CA347228361 | DYSF | c.1471G>T (p.Glu491Ter) c.688G>T (p.Glu230Ter) c.646G>T (p.Glu216Ter) c.4003G>T (p.Glu1335Ter) c.4057G>T (p.Glu1353Ter) c.4006G>T (p.Glu1336Ter) c.4054G>T (p.Glu1352Ter) c.4099G>T (p.Glu1367Ter) c.3964G>T (p.Glu1322Ter) c.4096G>T (p.Glu1366Ter) n.239G>T n.387G>T n.888G>T n.222G>T n.363G>T c.3961G>T (p.Glu1321Ter) n.4257G>T | gnomAD v4 |
| 2 | g.71611345A>C | CA347228363 | DYSF | c.1472A>C (p.Glu491Ala) c.689A>C (p.Glu230Ala) c.647A>C (p.Glu216Ala) c.4004A>C (p.Glu1335Ala) c.4058A>C (p.Glu1353Ala) c.4007A>C (p.Glu1336Ala) c.4055A>C (p.Glu1352Ala) c.4100A>C (p.Glu1367Ala) c.3965A>C (p.Glu1322Ala) c.4097A>C (p.Glu1366Ala) n.240A>C n.388A>C n.889A>C n.223A>C n.364A>C c.3962A>C (p.Glu1321Ala) n.4258A>C | |
| 2 | g.71611345A>G | CA347228364 | DYSF | c.1472A>G (p.Glu491Gly) c.689A>G (p.Glu230Gly) c.647A>G (p.Glu216Gly) c.4004A>G (p.Glu1335Gly) c.4058A>G (p.Glu1353Gly) c.4007A>G (p.Glu1336Gly) c.4055A>G (p.Glu1352Gly) c.4100A>G (p.Glu1367Gly) c.3965A>G (p.Glu1322Gly) c.4097A>G (p.Glu1366Gly) n.240A>G n.388A>G n.889A>G n.223A>G n.364A>G c.3962A>G (p.Glu1321Gly) n.4258A>G | |
| 2 | g.71611345A>T | CA347228365 | DYSF | c.1472A>T (p.Glu491Val) c.689A>T (p.Glu230Val) c.647A>T (p.Glu216Val) c.4004A>T (p.Glu1335Val) c.4058A>T (p.Glu1353Val) c.4007A>T (p.Glu1336Val) c.4055A>T (p.Glu1352Val) c.4100A>T (p.Glu1367Val) c.3965A>T (p.Glu1322Val) c.4097A>T (p.Glu1366Val) n.240A>T n.388A>T n.889A>T n.223A>T n.364A>T c.3962A>T (p.Glu1321Val) n.4258A>T | |
| 2 | g.71611346G>A | CA1706855 | DYSF | c.1473G>A (p.Glu491=) c.690G>A (p.Glu230=) c.648G>A (p.Glu216=) c.4005G>A (p.Glu1335=) c.4059G>A (p.Glu1353=) c.4008G>A (p.Glu1336=) c.4056G>A (p.Glu1352=) c.4101G>A (p.Glu1367=) c.3966G>A (p.Glu1322=) c.4098G>A (p.Glu1366=) n.241G>A n.389G>A n.890G>A n.224G>A n.365G>A c.3963G>A (p.Glu1321=) n.4259G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.71611346G>C | CA347228366 | DYSF | c.1473G>C (p.Glu491Asp) c.690G>C (p.Glu230Asp) c.648G>C (p.Glu216Asp) c.4005G>C (p.Glu1335Asp) c.4059G>C (p.Glu1353Asp) c.4008G>C (p.Glu1336Asp) c.4056G>C (p.Glu1352Asp) c.4101G>C (p.Glu1367Asp) c.3966G>C (p.Glu1322Asp) c.4098G>C (p.Glu1366Asp) n.241G>C n.389G>C n.890G>C n.224G>C n.365G>C c.3963G>C (p.Glu1321Asp) n.4259G>C | |
| 2 | g.71611346G= | CA1260124050 | DYSF | c.1473G= (p.Glu491=) c.690G= (p.Glu230=) c.648G= (p.Glu216=) c.4005G= (p.Glu1335=) c.4059G= (p.Glu1353=) c.4008G= (p.Glu1336=) c.4056G= (p.Glu1352=) c.4101G= (p.Glu1367=) c.3966G= (p.Glu1322=) c.4098G= (p.Glu1366=) n.241G= n.389G= n.890G= n.224G= n.365G= c.3963G= (p.Glu1321=) n.4259G= | |
| 2 | g.71611346G>T | CA347228367 | DYSF | c.1473G>T (p.Glu491Asp) c.690G>T (p.Glu230Asp) c.648G>T (p.Glu216Asp) c.4005G>T (p.Glu1335Asp) c.4059G>T (p.Glu1353Asp) c.4008G>T (p.Glu1336Asp) c.4056G>T (p.Glu1352Asp) c.4101G>T (p.Glu1367Asp) c.3966G>T (p.Glu1322Asp) c.4098G>T (p.Glu1366Asp) n.241G>T n.389G>T n.890G>T n.224G>T n.365G>T c.3963G>T (p.Glu1321Asp) n.4259G>T | |
| 2 | g.71611346_71611347del | CA2659553224 | DYSF | c.1473_1473+1del c.690_690+1del c.648_648+1del c.4005_4005+1del c.4059_4059+1del c.4008_4008+1del c.4056_4056+1del c.4101_4101+1del c.3966_3966+1del c.4098_4098+1del n.241_241+1del n.389_389+1del n.890_890+1del n.224_224+1del n.365_365+1del c.3963_3963+1del n.4259_4259+1del | gnomAD v4 |