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.108666540_108666545del | CA2580100167 | COL4A5 | c.3499_3504del (p.Gly1167_Lys1168del) c.3175_3180del (p.Gly1059_Lys1060del) c.1072_1077del (p.Gly358_Lys359del) c.3514_3519del (p.Gly1172_Lys1173del) c.1834_1839del (p.Gly612_Lys613del) | ClinVar |
| X | g.108666540G>A | CA258876 | COL4A5 | c.3499G>A (p.Gly1167Ser) c.3175G>A (p.Gly1059Ser) c.1072G>A (p.Gly358Ser) c.3514G>A (p.Gly1172Ser) c.1834G>A (p.Gly612Ser) | ClinVar dbSNP |
| X | g.108666540G>C | CA413847751 | COL4A5 | c.3499G>C (p.Gly1167Arg) c.3175G>C (p.Gly1059Arg) c.1072G>C (p.Gly358Arg) c.3514G>C (p.Gly1172Arg) c.1834G>C (p.Gly612Arg) | gnomAD v4 |
| X | g.108666540G= | CA2450712332 | COL4A5 | c.3499G= (p.Gly1167=) c.3175G= (p.Gly1059=) c.1072G= (p.Gly358=) c.3514G= (p.Gly1172=) c.1834G= (p.Gly612=) | |
| X | g.108666540G>T | CA413847752 | COL4A5 | c.3499G>T (p.Gly1167Cys) c.3175G>T (p.Gly1059Cys) c.1072G>T (p.Gly358Cys) c.3514G>T (p.Gly1172Cys) c.1834G>T (p.Gly612Cys) | |
| X | g.108666541G>A | CA413847753 | COL4A5 | c.3500G>A (p.Gly1167Asp) c.3176G>A (p.Gly1059Asp) c.1073G>A (p.Gly358Asp) c.3515G>A (p.Gly1172Asp) c.1835G>A (p.Gly612Asp) | ClinVar |
| X | g.108666541G>C | CA413847754 | COL4A5 | c.3500G>C (p.Gly1167Ala) c.3176G>C (p.Gly1059Ala) c.1073G>C (p.Gly358Ala) c.3515G>C (p.Gly1172Ala) c.1835G>C (p.Gly612Ala) | |
| X | g.108666541G>T | CA413847755 | COL4A5 | c.3500G>T (p.Gly1167Val) c.3176G>T (p.Gly1059Val) c.1073G>T (p.Gly358Val) c.3515G>T (p.Gly1172Val) c.1835G>T (p.Gly612Val) | |
| X | g.108666542C>A | CA517922358 | COL4A5 | c.3501C>A (p.Gly1167=) c.3177C>A (p.Gly1059=) c.1074C>A (p.Gly358=) c.3516C>A (p.Gly1172=) c.1836C>A (p.Gly612=) | |
| X | g.108666542C>G | CA517922359 | COL4A5 | c.3501C>G (p.Gly1167=) c.3177C>G (p.Gly1059=) c.1074C>G (p.Gly358=) c.3516C>G (p.Gly1172=) c.1836C>G (p.Gly612=) | |
| X | g.108666542C>T | CA517922360 | COL4A5 | c.3501C>T (p.Gly1167=) c.3177C>T (p.Gly1059=) c.1074C>T (p.Gly358=) c.3516C>T (p.Gly1172=) c.1836C>T (p.Gly612=) | gnomAD v4 |
| X | g.108666543A>C | CA413847756 | COL4A5 | c.3502A>C (p.Lys1168Gln) c.3178A>C (p.Lys1060Gln) c.1075A>C (p.Lys359Gln) c.3517A>C (p.Lys1173Gln) c.1837A>C (p.Lys613Gln) | gnomAD v4 |
| X | g.108666543A>G | CA413847757 | COL4A5 | c.3502A>G (p.Lys1168Glu) c.3178A>G (p.Lys1060Glu) c.1075A>G (p.Lys359Glu) c.3517A>G (p.Lys1173Glu) c.1837A>G (p.Lys613Glu) | |
| X | g.108666543A>T | CA413847758 | COL4A5 | c.3502A>T (p.Lys1168Ter) c.3178A>T (p.Lys1060Ter) c.1075A>T (p.Lys359Ter) c.3517A>T (p.Lys1173Ter) c.1837A>T (p.Lys613Ter) | |
| X | g.108666544A= | CA2450712333 | COL4A5 | c.3503A= (p.Lys1168=) c.3179A= (p.Lys1060=) c.1076A= (p.Lys359=) c.3518A= (p.Lys1173=) c.1838A= (p.Lys613=) | |
| X | g.108666544A>C | CA413847760 | COL4A5 | c.3503A>C (p.Lys1168Thr) c.3179A>C (p.Lys1060Thr) c.1076A>C (p.Lys359Thr) c.3518A>C (p.Lys1173Thr) c.1838A>C (p.Lys613Thr) | |
| X | g.108666544A>G | CA413847761 | COL4A5 | c.3503A>G (p.Lys1168Arg) c.3179A>G (p.Lys1060Arg) c.1076A>G (p.Lys359Arg) c.3518A>G (p.Lys1173Arg) c.1838A>G (p.Lys613Arg) | |
| X | g.108666544A>T | CA413847759 | COL4A5 | c.3503A>T (p.Lys1168Ile) c.3179A>T (p.Lys1060Ile) c.1076A>T (p.Lys359Ile) c.3518A>T (p.Lys1173Ile) c.1838A>T (p.Lys613Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.108666545A>C | CA413847762 | COL4A5 | c.3504A>C (p.Lys1168Asn) c.3180A>C (p.Lys1060Asn) c.1077A>C (p.Lys359Asn) c.3519A>C (p.Lys1173Asn) c.1839A>C (p.Lys613Asn) | |
| X | g.108666545A>G | CA517922362 | COL4A5 | c.3504A>G (p.Lys1168=) c.3180A>G (p.Lys1060=) c.1077A>G (p.Lys359=) c.3519A>G (p.Lys1173=) c.1839A>G (p.Lys613=) | |
| X | g.108666545A>T | CA413847763 | COL4A5 | c.3504A>T (p.Lys1168Asn) c.3180A>T (p.Lys1060Asn) c.1077A>T (p.Lys359Asn) c.3519A>T (p.Lys1173Asn) c.1839A>T (p.Lys613Asn) | |
| X | g.108666546_108666553del | CA517922363 | COL4A5 | c.3505_3512del (p.Pro1169ArgfsTer12) c.3181_3188del (p.Pro1061ArgfsTer12) c.1078_1085del (p.Pro360ArgfsTer12) c.3520_3527del (p.Pro1174ArgfsTer12) c.1840_1847del (p.Pro614ArgfsTer12) | |
| X | g.108666546C>A | CA413847764 | COL4A5 | c.3505C>A (p.Pro1169Thr) c.3181C>A (p.Pro1061Thr) c.1078C>A (p.Pro360Thr) c.3520C>A (p.Pro1174Thr) c.1840C>A (p.Pro614Thr) | gnomAD v4 |
| X | g.108666546C>G | CA413847765 | COL4A5 | c.3505C>G (p.Pro1169Ala) c.3181C>G (p.Pro1061Ala) c.1078C>G (p.Pro360Ala) c.3520C>G (p.Pro1174Ala) c.1840C>G (p.Pro614Ala) | |
| X | g.108666546C>T | CA413847766 | COL4A5 | c.3505C>T (p.Pro1169Ser) c.3181C>T (p.Pro1061Ser) c.1078C>T (p.Pro360Ser) c.3520C>T (p.Pro1174Ser) c.1840C>T (p.Pro614Ser) | gnomAD v4 |
| X | g.108666547C>A | CA413847767 | COL4A5 | c.3506C>A (p.Pro1169His) c.3182C>A (p.Pro1061His) c.1079C>A (p.Pro360His) c.3521C>A (p.Pro1174His) c.1841C>A (p.Pro614His) | gnomAD v4 |
| X | g.108666547C>G | CA413847768 | COL4A5 | c.3506C>G (p.Pro1169Arg) c.3182C>G (p.Pro1061Arg) c.1079C>G (p.Pro360Arg) c.3521C>G (p.Pro1174Arg) c.1841C>G (p.Pro614Arg) | |
| X | g.108666547C>T | CA413847769 | COL4A5 | c.3506C>T (p.Pro1169Leu) c.3182C>T (p.Pro1061Leu) c.1079C>T (p.Pro360Leu) c.3521C>T (p.Pro1174Leu) c.1841C>T (p.Pro614Leu) | |
| X | g.108666548C>A | CA517922367 | COL4A5 | c.3507C>A (p.Pro1169=) c.3183C>A (p.Pro1061=) c.1080C>A (p.Pro360=) c.3522C>A (p.Pro1174=) c.1842C>A (p.Pro614=) | |
| X | g.108666548C= | CA2450712335 | COL4A5 | c.3507C= (p.Pro1169=) c.3183C= (p.Pro1061=) c.1080C= (p.Pro360=) c.3522C= (p.Pro1174=) c.1842C= (p.Pro614=) | |
| X | g.108666548C>G | CA517922368 | COL4A5 | c.3507C>G (p.Pro1169=) c.3183C>G (p.Pro1061=) c.1080C>G (p.Pro360=) c.3522C>G (p.Pro1174=) c.1842C>G (p.Pro614=) | ClinVar |
| X | g.108666548C>T | CA10489124 | COL4A5 | c.3507C>T (p.Pro1169=) c.3183C>T (p.Pro1061=) c.1080C>T (p.Pro360=) c.3522C>T (p.Pro1174=) c.1842C>T (p.Pro614=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| X | g.108666548_108666549delinsCG | CA2450712334 | COL4A5 | c.3507_3508delinsCG (p.Pro1169=) c.3183_3184delinsCG (p.Pro1061=) c.1080_1081delinsCG (p.Pro360=) c.3522_3523delinsCG (p.Pro1174=) c.1842_1843delinsCG (p.Pro614=) | |
| X | g.108666549G>A | CA258878 | COL4A5 | c.3508G>A (p.Gly1170Ser) c.3184G>A (p.Gly1062Ser) c.1081G>A (p.Gly361Ser) c.3523G>A (p.Gly1175Ser) c.1843G>A (p.Gly615Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108666549G>C | CA413847770 | COL4A5 | c.3508G>C (p.Gly1170Arg) c.3184G>C (p.Gly1062Arg) c.1081G>C (p.Gly361Arg) c.3523G>C (p.Gly1175Arg) c.1843G>C (p.Gly615Arg) | ClinVar dbSNP |
| X | g.108666549G= | CA2450712336 | COL4A5 | c.3508G= (p.Gly1170=) c.3184G= (p.Gly1062=) c.1081G= (p.Gly361=) c.3523G= (p.Gly1175=) c.1843G= (p.Gly615=) | |
| X | g.108666549G>T | CA413847771 | COL4A5 | c.3508G>T (p.Gly1170Cys) c.3184G>T (p.Gly1062Cys) c.1081G>T (p.Gly361Cys) c.3523G>T (p.Gly1175Cys) c.1843G>T (p.Gly615Cys) | ClinVar dbSNP gnomAD v4 |
| X | g.108666550del | CA258880 | COL4A5 | c.3509del (p.Gly1170ValfsTer?) c.3185del (p.Gly1062ValfsTer?) c.1082del (p.Gly361ValfsTer?) c.3524del (p.Gly1175ValfsTer?) c.1844del (p.Gly615ValfsTer?) | dbSNP |
| X | g.108666550G>A | CA16609464 | COL4A5 | c.3509G>A (p.Gly1170Asp) c.3185G>A (p.Gly1062Asp) c.1082G>A (p.Gly361Asp) c.3524G>A (p.Gly1175Asp) c.1844G>A (p.Gly615Asp) | ClinVar dbSNP |
| X | g.108666550G>C | CA413847773 | COL4A5 | c.3509G>C (p.Gly1170Ala) c.3185G>C (p.Gly1062Ala) c.1082G>C (p.Gly361Ala) c.3524G>C (p.Gly1175Ala) c.1844G>C (p.Gly615Ala) | |
| X | g.108666550G= | CA2450712337 | COL4A5 | c.3509G= (p.Gly1170=) c.3185G= (p.Gly1062=) c.1082G= (p.Gly361=) c.3524G= (p.Gly1175=) c.1844G= (p.Gly615=) | |
| X | g.108666550G>T | CA413847772 | COL4A5 | c.3509G>T (p.Gly1170Val) c.3185G>T (p.Gly1062Val) c.1082G>T (p.Gly361Val) c.3524G>T (p.Gly1175Val) c.1844G>T (p.Gly615Val) | ClinVar |
| X | g.108666551T>A | CA517922372 | COL4A5 | c.3510T>A (p.Gly1170=) c.3186T>A (p.Gly1062=) c.1083T>A (p.Gly361=) c.3525T>A (p.Gly1175=) c.1845T>A (p.Gly615=) | |
| X | g.108666551T>C | CA517922373 | COL4A5 | c.3510T>C (p.Gly1170=) c.3186T>C (p.Gly1062=) c.1083T>C (p.Gly361=) c.3525T>C (p.Gly1175=) c.1845T>C (p.Gly615=) | |
| X | g.108666551T>G | CA517922374 | COL4A5 | c.3510T>G (p.Gly1170=) c.3186T>G (p.Gly1062=) c.1083T>G (p.Gly361=) c.3525T>G (p.Gly1175=) c.1845T>G (p.Gly615=) | |
| X | g.108666552C>A | CA413847774 | COL4A5 | c.3511C>A (p.Gln1171Lys) c.3187C>A (p.Gln1063Lys) c.1084C>A (p.Gln362Lys) c.3526C>A (p.Gln1176Lys) c.1846C>A (p.Gln616Lys) | COSMIC COSMIC |
| X | g.108666552C= | CA2450712338 | COL4A5 | c.3511C= (p.Gln1171=) c.3187C= (p.Gln1063=) c.1084C= (p.Gln362=) c.3526C= (p.Gln1176=) c.1846C= (p.Gln616=) | |
| X | g.108666552C>G | CA413847775 | COL4A5 | c.3511C>G (p.Gln1171Glu) c.3187C>G (p.Gln1063Glu) c.1084C>G (p.Gln362Glu) c.3526C>G (p.Gln1176Glu) c.1846C>G (p.Gln616Glu) | COSMIC COSMIC |
| X | g.108666552C>T | CA413847776 | COL4A5 | c.3511C>T (p.Gln1171Ter) c.3187C>T (p.Gln1063Ter) c.1084C>T (p.Gln362Ter) c.3526C>T (p.Gln1176Ter) c.1846C>T (p.Gln616Ter) | ClinVar dbSNP |
| X | g.108666553A>C | CA413847777 | COL4A5 | c.3512A>C (p.Gln1171Pro) c.3188A>C (p.Gln1063Pro) c.1085A>C (p.Gln362Pro) c.3527A>C (p.Gln1176Pro) c.1847A>C (p.Gln616Pro) |