| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.29672639G>A | CA363043099 | ZFP57 | c.1472C>T (p.Thr491Ile) c.1256C>T (p.Thr419Ile) c.1220C>T (p.Thr407Ile) c.1412C>T (p.Thr471Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.29672639G>C | CA3690679 | ZFP57 | c.1472C>G (p.Thr491Ser) c.1256C>G (p.Thr419Ser) c.1220C>G (p.Thr407Ser) c.1412C>G (p.Thr471Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.29672639G= | CA1618398826 | ZFP57 | c.1472C= (p.Thr491=) c.1256C= (p.Thr419=) c.1220C= (p.Thr407=) c.1412C= (p.Thr471=) | |
| 6 | g.29672639G>T | CA363043101 | ZFP57 | c.1472C>A (p.Thr491Asn) c.1256C>A (p.Thr419Asn) c.1220C>A (p.Thr407Asn) c.1412C>A (p.Thr471Asn) | |
| 6 | g.29672640T>A | CA363043102 | ZFP57 | c.1471A>T (p.Thr491Ser) c.1255A>T (p.Thr419Ser) c.1219A>T (p.Thr407Ser) c.1411A>T (p.Thr471Ser) | gnomAD v4 |
| 6 | g.29672640T>C | CA363043103 | ZFP57 | c.1471A>G (p.Thr491Ala) c.1255A>G (p.Thr419Ala) c.1219A>G (p.Thr407Ala) c.1411A>G (p.Thr471Ala) | |
| 6 | g.29672640T>G | CA363043104 | ZFP57 | c.1471A>C (p.Thr491Pro) c.1255A>C (p.Thr419Pro) c.1219A>C (p.Thr407Pro) c.1411A>C (p.Thr471Pro) | |
| 6 | g.29672641G>A | CA449458319 | ZFP57 | c.1470C>T (p.Pro490=) c.1254C>T (p.Pro418=) c.1218C>T (p.Pro406=) c.1410C>T (p.Pro470=) | |
| 6 | g.29672641G>C | CA449458320 | ZFP57 | c.1470C>G (p.Pro490=) c.1254C>G (p.Pro418=) c.1218C>G (p.Pro406=) c.1410C>G (p.Pro470=) | |
| 6 | g.29672641G>T | CA449458321 | ZFP57 | c.1470C>A (p.Pro490=) c.1254C>A (p.Pro418=) c.1218C>A (p.Pro406=) c.1410C>A (p.Pro470=) | |
| 6 | g.29672642G>A | CA363043105 | ZFP57 | c.1469C>T (p.Pro490Leu) c.1253C>T (p.Pro418Leu) c.1217C>T (p.Pro406Leu) c.1409C>T (p.Pro470Leu) | gnomAD v4 |
| 6 | g.29672642G>C | CA363043106 | ZFP57 | c.1469C>G (p.Pro490Arg) c.1253C>G (p.Pro418Arg) c.1217C>G (p.Pro406Arg) c.1409C>G (p.Pro470Arg) | gnomAD v4 |
| 6 | g.29672642G>T | CA363043107 | ZFP57 | c.1469C>A (p.Pro490His) c.1253C>A (p.Pro418His) c.1217C>A (p.Pro406His) c.1409C>A (p.Pro470His) | |
| 6 | g.29672643G>A | CA363043108 | ZFP57 | c.1468C>T (p.Pro490Ser) c.1252C>T (p.Pro418Ser) c.1216C>T (p.Pro406Ser) c.1408C>T (p.Pro470Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.29672643G>C | CA363043109 | ZFP57 | c.1468C>G (p.Pro490Ala) c.1252C>G (p.Pro418Ala) c.1216C>G (p.Pro406Ala) c.1408C>G (p.Pro470Ala) | |
| 6 | g.29672643G= | CA1618398827 | ZFP57 | c.1468C= (p.Pro490=) c.1252C= (p.Pro418=) c.1216C= (p.Pro406=) c.1408C= (p.Pro470=) | |
| 6 | g.29672643G>T | CA363043110 | ZFP57 | c.1468C>A (p.Pro490Thr) c.1252C>A (p.Pro418Thr) c.1216C>A (p.Pro406Thr) c.1408C>A (p.Pro470Thr) | gnomAD v4 |
| 6 | g.29672644G>A | CA449458323 | ZFP57 | c.1467C>T (p.Val489=) c.1251C>T (p.Val417=) c.1215C>T (p.Val405=) c.1407C>T (p.Val469=) | gnomAD v4 |
| 6 | g.29672644G>C | CA449458324 | ZFP57 | c.1467C>G (p.Val489=) c.1251C>G (p.Val417=) c.1215C>G (p.Val405=) c.1407C>G (p.Val469=) | |
| 6 | g.29672644G>T | CA449458325 | ZFP57 | c.1467C>A (p.Val489=) c.1251C>A (p.Val417=) c.1215C>A (p.Val405=) c.1407C>A (p.Val469=) | |
| 6 | g.29672645A>C | CA363043113 | ZFP57 | c.1466T>G (p.Val489Gly) c.1250T>G (p.Val417Gly) c.1214T>G (p.Val405Gly) c.1406T>G (p.Val469Gly) | |
| 6 | g.29672645A>G | CA363043112 | ZFP57 | c.1466T>C (p.Val489Ala) c.1250T>C (p.Val417Ala) c.1214T>C (p.Val405Ala) c.1406T>C (p.Val469Ala) | |
| 6 | g.29672645A>T | CA363043111 | ZFP57 | c.1466T>A (p.Val489Asp) c.1250T>A (p.Val417Asp) c.1214T>A (p.Val405Asp) c.1406T>A (p.Val469Asp) | |
| 6 | g.29672646C>A | CA363043115 | ZFP57 | c.1465G>T (p.Val489Phe) c.1249G>T (p.Val417Phe) c.1213G>T (p.Val405Phe) c.1405G>T (p.Val469Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.29672646C= | CA1618398828 | ZFP57 | c.1465G= (p.Val489=) c.1249G= (p.Val417=) c.1213G= (p.Val405=) c.1405G= (p.Val469=) | |
| 6 | g.29672646C>G | CA363043114 | ZFP57 | c.1465G>C (p.Val489Leu) c.1249G>C (p.Val417Leu) c.1213G>C (p.Val405Leu) c.1405G>C (p.Val469Leu) | |
| 6 | g.29672646C>T | CA363043116 | ZFP57 | c.1465G>A (p.Val489Ile) c.1249G>A (p.Val417Ile) c.1213G>A (p.Val405Ile) c.1405G>A (p.Val469Ile) | |
| 6 | g.29672647A>C | CA363043117 | ZFP57 | c.1464T>G (p.Asp488Glu) c.1248T>G (p.Asp416Glu) c.1212T>G (p.Asp404Glu) c.1404T>G (p.Asp468Glu) | |
| 6 | g.29672647A>G | CA449458327 | ZFP57 | c.1464T>C (p.Asp488=) c.1248T>C (p.Asp416=) c.1212T>C (p.Asp404=) c.1404T>C (p.Asp468=) | gnomAD v4 |
| 6 | g.29672647A>T | CA363043118 | ZFP57 | c.1464T>A (p.Asp488Glu) c.1248T>A (p.Asp416Glu) c.1212T>A (p.Asp404Glu) c.1404T>A (p.Asp468Glu) | |
| 6 | g.29672648T>A | CA363043119 | ZFP57 | c.1463A>T (p.Asp488Val) c.1247A>T (p.Asp416Val) c.1211A>T (p.Asp404Val) c.1403A>T (p.Asp468Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.29672648T>C | CA135974378 | ZFP57 | c.1463A>G (p.Asp488Gly) c.1247A>G (p.Asp416Gly) c.1211A>G (p.Asp404Gly) c.1403A>G (p.Asp468Gly) | dbSNP |
| 6 | g.29672648T>G | CA363043121 | ZFP57 | c.1463A>C (p.Asp488Ala) c.1247A>C (p.Asp416Ala) c.1211A>C (p.Asp404Ala) c.1403A>C (p.Asp468Ala) | |
| 6 | g.29672648T= | CA1618398829 | ZFP57 | c.1463A= (p.Asp488=) c.1247A= (p.Asp416=) c.1211A= (p.Asp404=) c.1403A= (p.Asp468=) | |
| 6 | g.29672649C>A | CA363043123 | ZFP57 | c.1462G>T (p.Asp488Tyr) c.1246G>T (p.Asp416Tyr) c.1210G>T (p.Asp404Tyr) c.1402G>T (p.Asp468Tyr) | |
| 6 | g.29672649C>G | CA363043124 | ZFP57 | c.1462G>C (p.Asp488His) c.1246G>C (p.Asp416His) c.1210G>C (p.Asp404His) c.1402G>C (p.Asp468His) | |
| 6 | g.29672649C>T | CA363043125 | ZFP57 | c.1462G>A (p.Asp488Asn) c.1246G>A (p.Asp416Asn) c.1210G>A (p.Asp404Asn) c.1402G>A (p.Asp468Asn) | |
| 6 | g.29672650A= | CA1618398830 | ZFP57 | c.1461T= (p.His487=) c.1245T= (p.His415=) c.1209T= (p.His403=) c.1401T= (p.His467=) | |
| 6 | g.29672650A>C | CA363043127 | ZFP57 | c.1461T>G (p.His487Gln) c.1245T>G (p.His415Gln) c.1209T>G (p.His403Gln) c.1401T>G (p.His467Gln) | gnomAD v4 |
| 6 | g.29672650A>G | CA449458329 | ZFP57 | c.1461T>C (p.His487=) c.1245T>C (p.His415=) c.1209T>C (p.His403=) c.1401T>C (p.His467=) | |
| 6 | g.29672650A>T | CA363043128 | ZFP57 | c.1461T>A (p.His487Gln) c.1245T>A (p.His415Gln) c.1209T>A (p.His403Gln) c.1401T>A (p.His467Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.29672651T>A | CA363043129 | ZFP57 | c.1460A>T (p.His487Leu) c.1244A>T (p.His415Leu) c.1208A>T (p.His403Leu) c.1400A>T (p.His467Leu) | gnomAD v4 |
| 6 | g.29672651T>C | CA363043130 | ZFP57 | c.1460A>G (p.His487Arg) c.1244A>G (p.His415Arg) c.1208A>G (p.His403Arg) c.1400A>G (p.His467Arg) | dbSNP gnomAD v4 |
| 6 | g.29672651T>G | CA363043132 | ZFP57 | c.1460A>C (p.His487Pro) c.1244A>C (p.His415Pro) c.1208A>C (p.His403Pro) c.1400A>C (p.His467Pro) | |
| 6 | g.29672651T= | CA1618398831 | ZFP57 | c.1460A= (p.His487=) c.1244A= (p.His415=) c.1208A= (p.His403=) c.1400A= (p.His467=) | |
| 6 | g.29672652G>A | CA3690680 | ZFP57 | c.1459C>T (p.His487Tyr) c.1243C>T (p.His415Tyr) c.1207C>T (p.His403Tyr) c.1399C>T (p.His467Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.29672652G>C | CA363043133 | ZFP57 | c.1459C>G (p.His487Asp) c.1243C>G (p.His415Asp) c.1207C>G (p.His403Asp) c.1399C>G (p.His467Asp) | |
| 6 | g.29672652G= | CA1618398832 | ZFP57 | c.1459C= (p.His487=) c.1243C= (p.His415=) c.1207C= (p.His403=) c.1399C= (p.His467=) | |
| 6 | g.29672652G>T | CA363043134 | ZFP57 | c.1459C>A (p.His487Asn) c.1243C>A (p.His415Asn) c.1207C>A (p.His403Asn) c.1399C>A (p.His467Asn) | |
| 6 | g.29672653A>C | CA449458223 | ZFP57 | c.1458T>G (p.Ser486=) c.1242T>G (p.Ser414=) c.1206T>G (p.Ser402=) c.1398T>G (p.Ser466=) |