WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108666579C>A | CA413847867 | COL4A5 | c.3538C>A (p.Gln1180Lys) c.3214C>A (p.Gln1072Lys) c.1111C>A (p.Gln371Lys) c.3553C>A (p.Gln1185Lys) c.1873C>A (p.Gln625Lys) | |
| X | g.108666579C= | CA2450712347 | COL4A5 | c.3538C= (p.Gln1180=) c.3214C= (p.Gln1072=) c.1111C= (p.Gln371=) c.3553C= (p.Gln1185=) c.1873C= (p.Gln625=) | |
| X | g.108666579C>G | CA413847864 | COL4A5 | c.3538C>G (p.Gln1180Glu) c.3214C>G (p.Gln1072Glu) c.1111C>G (p.Gln371Glu) c.3553C>G (p.Gln1185Glu) c.1873C>G (p.Gln625Glu) | |
| X | g.108666579C>T | CA258888 | COL4A5 | c.3538C>T (p.Gln1180Ter) c.3214C>T (p.Gln1072Ter) c.1111C>T (p.Gln371Ter) c.3553C>T (p.Gln1185Ter) c.1873C>T (p.Gln625Ter) | ClinVar dbSNP |
| X | g.108666580A>C | CA413847869 | COL4A5 | c.3539A>C (p.Gln1180Pro) c.3215A>C (p.Gln1072Pro) c.1112A>C (p.Gln371Pro) c.3554A>C (p.Gln1185Pro) c.1874A>C (p.Gln625Pro) | gnomAD v4 |
| X | g.108666580A>G | CA413847871 | COL4A5 | c.3539A>G (p.Gln1180Arg) c.3215A>G (p.Gln1072Arg) c.1112A>G (p.Gln371Arg) c.3554A>G (p.Gln1185Arg) c.1874A>G (p.Gln625Arg) | |
| X | g.108666580A>T | CA413847873 | COL4A5 | c.3539A>T (p.Gln1180Leu) c.3215A>T (p.Gln1072Leu) c.1112A>T (p.Gln371Leu) c.3554A>T (p.Gln1185Leu) c.1874A>T (p.Gln625Leu) | |
| X | g.108666580_108666587delinsAGAAGGGT | CA2450712348 | COL4A5 | c.3539_3546delinsAGAAGGGT (p.Gln1180=) c.3215_3222delinsAGAAGGGT (p.Gln1072=) c.1112_1119delinsAGAAGGGT (p.Gln371=) c.3554_3561delinsAGAAGGGT (p.Gln1185=) c.1874_1881delinsAGAAGGGT (p.Gln625=) | |
| X | g.108666581G>A | CA517922422 | COL4A5 | c.3540G>A (p.Gln1180=) c.3216G>A (p.Gln1072=) c.1113G>A (p.Gln371=) c.3555G>A (p.Gln1185=) c.1875G>A (p.Gln625=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108666581G>C | CA413847875 | COL4A5 | c.3540G>C (p.Gln1180His) c.3216G>C (p.Gln1072His) c.1113G>C (p.Gln371His) c.3555G>C (p.Gln1185His) c.1875G>C (p.Gln625His) | |
| X | g.108666581G= | CA2450712349 | COL4A5 | c.3540G= (p.Gln1180=) c.3216G= (p.Gln1072=) c.1113G= (p.Gln371=) c.3555G= (p.Gln1185=) c.1875G= (p.Gln625=) | |
| X | g.108666581G>T | CA413847877 | COL4A5 | c.3540G>T (p.Gln1180His) c.3216G>T (p.Gln1072His) c.1113G>T (p.Gln371His) c.3555G>T (p.Gln1185His) c.1875G>T (p.Gln625His) | gnomAD v4 |
| X | g.108666584_108666590del | CA258891 | COL4A5 | c.3543_3549del (p.Lys1181AsnfsTer?) c.3219_3225del (p.Lys1073AsnfsTer?) c.1116_1122del (p.Lys372AsnfsTer?) c.3558_3564del (p.Lys1186AsnfsTer?) c.1878_1884del (p.Lys626AsnfsTer?) | dbSNP |
| X | g.108666582A>C | CA413847881 | COL4A5 | c.3541A>C (p.Lys1181Gln) c.3217A>C (p.Lys1073Gln) c.1114A>C (p.Lys372Gln) c.3556A>C (p.Lys1186Gln) c.1876A>C (p.Lys626Gln) | |
| X | g.108666582A>G | CA413847883 | COL4A5 | c.3541A>G (p.Lys1181Glu) c.3217A>G (p.Lys1073Glu) c.1114A>G (p.Lys372Glu) c.3556A>G (p.Lys1186Glu) c.1876A>G (p.Lys626Glu) | |
| X | g.108666582A>T | CA413847884 | COL4A5 | c.3541A>T (p.Lys1181Ter) c.3217A>T (p.Lys1073Ter) c.1114A>T (p.Lys372Ter) c.3556A>T (p.Lys1186Ter) c.1876A>T (p.Lys626Ter) | |
| X | g.108666583del | CA2694441417 | COL4A5 | c.3542del (p.Lys1181ArgfsTer?) c.3218del (p.Lys1073ArgfsTer?) c.1115del (p.Lys372ArgfsTer?) c.3557del (p.Lys1186ArgfsTer?) c.1877del (p.Lys626ArgfsTer?) | gnomAD v4 |
| X | g.108666583A>C | CA413847887 | COL4A5 | c.3542A>C (p.Lys1181Thr) c.3218A>C (p.Lys1073Thr) c.1115A>C (p.Lys372Thr) c.3557A>C (p.Lys1186Thr) c.1877A>C (p.Lys626Thr) | |
| X | g.108666583A>G | CA413847889 | COL4A5 | c.3542A>G (p.Lys1181Arg) c.3218A>G (p.Lys1073Arg) c.1115A>G (p.Lys372Arg) c.3557A>G (p.Lys1186Arg) c.1877A>G (p.Lys626Arg) | |
| X | g.108666583A>T | CA413847890 | COL4A5 | c.3542A>T (p.Lys1181Met) c.3218A>T (p.Lys1073Met) c.1115A>T (p.Lys372Met) c.3557A>T (p.Lys1186Met) c.1877A>T (p.Lys626Met) | |
| X | g.108666584G>A | CA517922423 | COL4A5 | c.3543G>A (p.Lys1181=) c.3219G>A (p.Lys1073=) c.1116G>A (p.Lys372=) c.3558G>A (p.Lys1186=) c.1878G>A (p.Lys626=) | |
| X | g.108666584G>C | CA413847894 | COL4A5 | c.3543G>C (p.Lys1181Asn) c.3219G>C (p.Lys1073Asn) c.1116G>C (p.Lys372Asn) c.3558G>C (p.Lys1186Asn) c.1878G>C (p.Lys626Asn) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108666584G= | CA2450712350 | COL4A5 | c.3543G= (p.Lys1181=) c.3219G= (p.Lys1073=) c.1116G= (p.Lys372=) c.3558G= (p.Lys1186=) c.1878G= (p.Lys626=) | |
| X | g.108666584G>T | CA413847892 | COL4A5 | c.3543G>T (p.Lys1181Asn) c.3219G>T (p.Lys1073Asn) c.1116G>T (p.Lys372Asn) c.3558G>T (p.Lys1186Asn) c.1878G>T (p.Lys626Asn) | |
| X | g.108666585G>A | CA413847896 | COL4A5 | c.3544G>A (p.Gly1182Ser) c.3220G>A (p.Gly1074Ser) c.1117G>A (p.Gly373Ser) c.3559G>A (p.Gly1187Ser) c.1879G>A (p.Gly627Ser) | |
| X | g.108666585G>C | CA258892 | COL4A5 | c.3544G>C (p.Gly1182Arg) c.3220G>C (p.Gly1074Arg) c.1117G>C (p.Gly373Arg) c.3559G>C (p.Gly1187Arg) c.1879G>C (p.Gly627Arg) | dbSNP |
| X | g.108666585G= | CA2450712351 | COL4A5 | c.3544G= (p.Gly1182=) c.3220G= (p.Gly1074=) c.1117G= (p.Gly373=) c.3559G= (p.Gly1187=) c.1879G= (p.Gly627=) | |
| X | g.108666585G>T | CA413847898 | COL4A5 | c.3544G>T (p.Gly1182Cys) c.3220G>T (p.Gly1074Cys) c.1117G>T (p.Gly373Cys) c.3559G>T (p.Gly1187Cys) c.1879G>T (p.Gly627Cys) | gnomAD v4 |
| X | g.108666586G>A | CA413847901 | COL4A5 | c.3545G>A (p.Gly1182Asp) c.3221G>A (p.Gly1074Asp) c.1118G>A (p.Gly373Asp) c.3560G>A (p.Gly1187Asp) c.1880G>A (p.Gly627Asp) | gnomAD v4 |
| X | g.108666586G>C | CA413847903 | COL4A5 | c.3545G>C (p.Gly1182Ala) c.3221G>C (p.Gly1074Ala) c.1118G>C (p.Gly373Ala) c.3560G>C (p.Gly1187Ala) c.1880G>C (p.Gly627Ala) | |
| X | g.108666586G= | CA2450712352 | COL4A5 | c.3545G= (p.Gly1182=) c.3221G= (p.Gly1074=) c.1118G= (p.Gly373=) c.3560G= (p.Gly1187=) c.1880G= (p.Gly627=) | |
| X | g.108666586G>T | CA413847905 | COL4A5 | c.3545G>T (p.Gly1182Val) c.3221G>T (p.Gly1074Val) c.1118G>T (p.Gly373Val) c.3560G>T (p.Gly1187Val) c.1880G>T (p.Gly627Val) | |
| X | g.108666587T>A | CA517922428 | COL4A5 | c.3546T>A (p.Gly1182=) c.3222T>A (p.Gly1074=) c.1119T>A (p.Gly373=) c.3561T>A (p.Gly1187=) c.1881T>A (p.Gly627=) | |
| X | g.108666587T>C | CA517922427 | COL4A5 | c.3546T>C (p.Gly1182=) c.3222T>C (p.Gly1074=) c.1119T>C (p.Gly373=) c.3561T>C (p.Gly1187=) c.1881T>C (p.Gly627=) | |
| X | g.108666587T>G | CA517922426 | COL4A5 | c.3546T>G (p.Gly1182=) c.3222T>G (p.Gly1074=) c.1119T>G (p.Gly373=) c.3561T>G (p.Gly1187=) c.1881T>G (p.Gly627=) | |
| X | g.108666588G>A | CA413847907 | COL4A5 | c.3547G>A (p.Glu1183Lys) c.3223G>A (p.Glu1075Lys) c.1120G>A (p.Glu374Lys) c.3562G>A (p.Glu1188Lys) c.1882G>A (p.Glu628Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.108666588G>C | CA413847909 | COL4A5 | c.3547G>C (p.Glu1183Gln) c.3223G>C (p.Glu1075Gln) c.1120G>C (p.Glu374Gln) c.3562G>C (p.Glu1188Gln) c.1882G>C (p.Glu628Gln) | |
| X | g.108666588G= | CA2450712353 | COL4A5 | c.3547G= (p.Glu1183=) c.3223G= (p.Glu1075=) c.1120G= (p.Glu374=) c.3562G= (p.Glu1188=) c.1882G= (p.Glu628=) | |
| X | g.108666588G>T | CA413847911 | COL4A5 | c.3547G>T (p.Glu1183Ter) c.3223G>T (p.Glu1075Ter) c.1120G>T (p.Glu374Ter) c.3562G>T (p.Glu1188Ter) c.1882G>T (p.Glu628Ter) | |
| X | g.108666589A>C | CA413847913 | COL4A5 | c.3548A>C (p.Glu1183Ala) c.3224A>C (p.Glu1075Ala) c.1121A>C (p.Glu374Ala) c.3563A>C (p.Glu1188Ala) c.1883A>C (p.Glu628Ala) | |
| X | g.108666589A>G | CA413847916 | COL4A5 | c.3548A>G (p.Glu1183Gly) c.3224A>G (p.Glu1075Gly) c.1121A>G (p.Glu374Gly) c.3563A>G (p.Glu1188Gly) c.1883A>G (p.Glu628Gly) | |
| X | g.108666589A>T | CA413847918 | COL4A5 | c.3548A>T (p.Glu1183Val) c.3224A>T (p.Glu1075Val) c.1121A>T (p.Glu374Val) c.3563A>T (p.Glu1188Val) c.1883A>T (p.Glu628Val) | |
| X | g.108666590A>C | CA413847920 | COL4A5 | c.3549A>C (p.Glu1183Asp) c.3225A>C (p.Glu1075Asp) c.1122A>C (p.Glu374Asp) c.3564A>C (p.Glu1188Asp) c.1884A>C (p.Glu628Asp) | |
| X | g.108666590A>G | CA517922431 | COL4A5 | c.3549A>G (p.Glu1183=) c.3225A>G (p.Glu1075=) c.1122A>G (p.Glu374=) c.3564A>G (p.Glu1188=) c.1884A>G (p.Glu628=) | |
| X | g.108666590A>T | CA413847923 | COL4A5 | c.3549A>T (p.Glu1183Asp) c.3225A>T (p.Glu1075Asp) c.1122A>T (p.Glu374Asp) c.3564A>T (p.Glu1188Asp) c.1884A>T (p.Glu628Asp) | |
| X | g.108666591C>A | CA10489127 | COL4A5 | c.3550C>A (p.Pro1184Thr) c.3226C>A (p.Pro1076Thr) c.1123C>A (p.Pro375Thr) c.3565C>A (p.Pro1189Thr) c.1885C>A (p.Pro629Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108666591C= | CA2450712354 | COL4A5 | c.3550C= (p.Pro1184=) c.3226C= (p.Pro1076=) c.1123C= (p.Pro375=) c.3565C= (p.Pro1189=) c.1885C= (p.Pro629=) | |
| X | g.108666591C>G | CA413847925 | COL4A5 | c.3550C>G (p.Pro1184Ala) c.3226C>G (p.Pro1076Ala) c.1123C>G (p.Pro375Ala) c.3565C>G (p.Pro1189Ala) c.1885C>G (p.Pro629Ala) | |
| X | g.108666591C>T | CA334045788 | COL4A5 | c.3550C>T (p.Pro1184Ser) c.3226C>T (p.Pro1076Ser) c.1123C>T (p.Pro375Ser) c.3565C>T (p.Pro1189Ser) c.1885C>T (p.Pro629Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108666592C>A | CA413847929 | COL4A5 | c.3551C>A (p.Pro1184Gln) c.3227C>A (p.Pro1076Gln) c.1124C>A (p.Pro375Gln) c.3566C>A (p.Pro1189Gln) c.1886C>A (p.Pro629Gln) |