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.108668320_108668505del | CA2695235652 | COL4A5 | c.3606_3790+1del c.3282_3466+1del c.1179_1363+1del c.3621_3805+1del c.1941_2125+1del | |
| X | g.108668369_108668394del | CA2697544720 | COL4A5 | c.3655_3680del (p.Pro1219SerfsTer24) c.3331_3356del (p.Pro1111SerfsTer24) c.1228_1253del (p.Pro410SerfsTer24) c.3670_3695del (p.Pro1224SerfsTer24) c.1990_2015del (p.Pro664SerfsTer24) | ClinVar |
| X | g.108668367_108668439delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC | CA2450712935 | COL4A5 | c.3653_3725delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC (p.Leu1218=) c.3329_3401delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC (p.Leu1110=) c.1226_1298delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC (p.Leu409=) c.3668_3740delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC (p.Leu1223=) c.1988_2060delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC (p.Leu663=) | |
| X | g.108668371_108668442del | CA258920 | COL4A5 | c.3657_3728del (p.Gly1220_Pro1243del) c.3333_3404del (p.Gly1112_Pro1135del) c.1230_1301del (p.Gly411_Pro434del) c.3672_3743del (p.Gly1225_Pro1248del) c.1992_2063del (p.Gly665_Pro688del) | dbSNP |
| X | g.108668371A>C | CA517922650 | COL4A5 | c.3657A>C (p.Pro1219=) c.3333A>C (p.Pro1111=) c.1230A>C (p.Pro410=) c.3672A>C (p.Pro1224=) c.1992A>C (p.Pro664=) | |
| X | g.108668371A>G | CA517922652 | COL4A5 | c.3657A>G (p.Pro1219=) c.3333A>G (p.Pro1111=) c.1230A>G (p.Pro410=) c.3672A>G (p.Pro1224=) c.1992A>G (p.Pro664=) | COSMIC COSMIC |
| X | g.108668371A>T | CA517922654 | COL4A5 | c.3657A>T (p.Pro1219=) c.3333A>T (p.Pro1111=) c.1230A>T (p.Pro410=) c.3672A>T (p.Pro1224=) c.1992A>T (p.Pro664=) | |
| X | g.108668372G>A | CA413848541 | COL4A5 | c.3658G>A (p.Gly1220Ser) c.3334G>A (p.Gly1112Ser) c.1231G>A (p.Gly411Ser) c.3673G>A (p.Gly1225Ser) c.1993G>A (p.Gly665Ser) | |
| X | g.108668372G>C | CA413848543 | COL4A5 | c.3658G>C (p.Gly1220Arg) c.3334G>C (p.Gly1112Arg) c.1231G>C (p.Gly411Arg) c.3673G>C (p.Gly1225Arg) c.1993G>C (p.Gly665Arg) | |
| X | g.108668372G>T | CA413848545 | COL4A5 | c.3658G>T (p.Gly1220Cys) c.3334G>T (p.Gly1112Cys) c.1231G>T (p.Gly411Cys) c.3673G>T (p.Gly1225Cys) c.1993G>T (p.Gly665Cys) | |
| X | g.108668373G>A | CA258923 | COL4A5 | c.3659G>A (p.Gly1220Asp) c.3335G>A (p.Gly1112Asp) c.1232G>A (p.Gly411Asp) c.3674G>A (p.Gly1225Asp) c.1994G>A (p.Gly665Asp) | ClinVar dbSNP |
| X | g.108668373G>C | CA413848550 | COL4A5 | c.3659G>C (p.Gly1220Ala) c.3335G>C (p.Gly1112Ala) c.1232G>C (p.Gly411Ala) c.3674G>C (p.Gly1225Ala) c.1994G>C (p.Gly665Ala) | |
| X | g.108668373G= | CA2450712937 | COL4A5 | c.3659G= (p.Gly1220=) c.3335G= (p.Gly1112=) c.1232G= (p.Gly411=) c.3674G= (p.Gly1225=) c.1994G= (p.Gly665=) | |
| X | g.108668373G>T | CA413848553 | COL4A5 | c.3659G>T (p.Gly1220Val) c.3335G>T (p.Gly1112Val) c.1232G>T (p.Gly411Val) c.3674G>T (p.Gly1225Val) c.1994G>T (p.Gly665Val) | ClinVar dbSNP |
| X | g.108668374T>A | CA517922656 | COL4A5 | c.3660T>A (p.Gly1220=) c.3336T>A (p.Gly1112=) c.1233T>A (p.Gly411=) c.3675T>A (p.Gly1225=) c.1995T>A (p.Gly665=) | |
| X | g.108668374T>C | CA517922658 | COL4A5 | c.3660T>C (p.Gly1220=) c.3336T>C (p.Gly1112=) c.1233T>C (p.Gly411=) c.3675T>C (p.Gly1225=) c.1995T>C (p.Gly665=) | |
| X | g.108668374T>G | CA517922660 | COL4A5 | c.3660T>G (p.Gly1220=) c.3336T>G (p.Gly1112=) c.1233T>G (p.Gly411=) c.3675T>G (p.Gly1225=) c.1995T>G (p.Gly665=) | |
| X | g.108668375C>A | CA413848555 | COL4A5 | c.3661C>A (p.Pro1221Thr) c.3337C>A (p.Pro1113Thr) c.1234C>A (p.Pro412Thr) c.3676C>A (p.Pro1226Thr) c.1996C>A (p.Pro666Thr) | |
| X | g.108668375C>G | CA413848558 | COL4A5 | c.3661C>G (p.Pro1221Ala) c.3337C>G (p.Pro1113Ala) c.1234C>G (p.Pro412Ala) c.3676C>G (p.Pro1226Ala) c.1996C>G (p.Pro666Ala) | |
| X | g.108668375C>T | CA413848561 | COL4A5 | c.3661C>T (p.Pro1221Ser) c.3337C>T (p.Pro1113Ser) c.1234C>T (p.Pro412Ser) c.3676C>T (p.Pro1226Ser) c.1996C>T (p.Pro666Ser) | COSMIC COSMIC |
| X | g.108668376C>A | CA413848569 | COL4A5 | c.3662C>A (p.Pro1221Gln) c.3338C>A (p.Pro1113Gln) c.1235C>A (p.Pro412Gln) c.3677C>A (p.Pro1226Gln) c.1997C>A (p.Pro666Gln) | |
| X | g.108668376C= | CA2450712938 | COL4A5 | c.3662C= (p.Pro1221=) c.3338C= (p.Pro1113=) c.1235C= (p.Pro412=) c.3677C= (p.Pro1226=) c.1997C= (p.Pro666=) | |
| X | g.108668376C>G | CA413848564 | COL4A5 | c.3662C>G (p.Pro1221Arg) c.3338C>G (p.Pro1113Arg) c.1235C>G (p.Pro412Arg) c.3677C>G (p.Pro1226Arg) c.1997C>G (p.Pro666Arg) | |
| X | g.108668376C>T | CA334046767 | COL4A5 | c.3662C>T (p.Pro1221Leu) c.3338C>T (p.Pro1113Leu) c.1235C>T (p.Pro412Leu) c.3677C>T (p.Pro1226Leu) c.1997C>T (p.Pro666Leu) | dbSNP |
| X | g.108668377A>C | CA517922662 | COL4A5 | c.3663A>C (p.Pro1221=) c.3339A>C (p.Pro1113=) c.1236A>C (p.Pro412=) c.3678A>C (p.Pro1226=) c.1998A>C (p.Pro666=) | |
| X | g.108668377A>G | CA517922664 | COL4A5 | c.3663A>G (p.Pro1221=) c.3339A>G (p.Pro1113=) c.1236A>G (p.Pro412=) c.3678A>G (p.Pro1226=) c.1998A>G (p.Pro666=) | gnomAD v4 |
| X | g.108668377A>T | CA517922666 | COL4A5 | c.3663A>T (p.Pro1221=) c.3339A>T (p.Pro1113=) c.1236A>T (p.Pro412=) c.3678A>T (p.Pro1226=) c.1998A>T (p.Pro666=) | |
| X | g.108668378A= | CA2450712939 | COL4A5 | c.3664A= (p.Lys1222=) c.3340A= (p.Lys1114=) c.1237A= (p.Lys413=) c.3679A= (p.Lys1227=) c.1999A= (p.Lys667=) | |
| X | g.108668378A>C | CA413848573 | COL4A5 | c.3664A>C (p.Lys1222Gln) c.3340A>C (p.Lys1114Gln) c.1237A>C (p.Lys413Gln) c.3679A>C (p.Lys1227Gln) c.1999A>C (p.Lys667Gln) | gnomAD v4 |
| X | g.108668378A>G | CA413848576 | COL4A5 | c.3664A>G (p.Lys1222Glu) c.3340A>G (p.Lys1114Glu) c.1237A>G (p.Lys413Glu) c.3679A>G (p.Lys1227Glu) c.1999A>G (p.Lys667Glu) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108668378A>T | CA413848579 | COL4A5 | c.3664A>T (p.Lys1222Ter) c.3340A>T (p.Lys1114Ter) c.1237A>T (p.Lys413Ter) c.3679A>T (p.Lys1227Ter) c.1999A>T (p.Lys667Ter) | |
| X | g.108668379A>C | CA413848582 | COL4A5 | c.3665A>C (p.Lys1222Thr) c.3341A>C (p.Lys1114Thr) c.1238A>C (p.Lys413Thr) c.3680A>C (p.Lys1227Thr) c.2000A>C (p.Lys667Thr) | |
| X | g.108668379A>G | CA413848584 | COL4A5 | c.3665A>G (p.Lys1222Arg) c.3341A>G (p.Lys1114Arg) c.1238A>G (p.Lys413Arg) c.3680A>G (p.Lys1227Arg) c.2000A>G (p.Lys667Arg) | |
| X | g.108668379A>T | CA413848587 | COL4A5 | c.3665A>T (p.Lys1222Met) c.3341A>T (p.Lys1114Met) c.1238A>T (p.Lys413Met) c.3680A>T (p.Lys1227Met) c.2000A>T (p.Lys667Met) | |
| X | g.108668380G>A | CA517922667 | COL4A5 | c.3666G>A (p.Lys1222=) c.3342G>A (p.Lys1114=) c.1239G>A (p.Lys413=) c.3681G>A (p.Lys1227=) c.2001G>A (p.Lys667=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.108668380G>C | CA413848591 | COL4A5 | c.3666G>C (p.Lys1222Asn) c.3342G>C (p.Lys1114Asn) c.1239G>C (p.Lys413Asn) c.3681G>C (p.Lys1227Asn) c.2001G>C (p.Lys667Asn) | |
| X | g.108668380G= | CA2450712940 | COL4A5 | c.3666G= (p.Lys1222=) c.3342G= (p.Lys1114=) c.1239G= (p.Lys413=) c.3681G= (p.Lys1227=) c.2001G= (p.Lys667=) | |
| X | g.108668380G>T | CA413848593 | COL4A5 | c.3666G>T (p.Lys1222Asn) c.3342G>T (p.Lys1114Asn) c.1239G>T (p.Lys413Asn) c.3681G>T (p.Lys1227Asn) c.2001G>T (p.Lys667Asn) | |
| X | g.108668381G>A | CA413848597 | COL4A5 | c.3667G>A (p.Gly1223Ser) c.3343G>A (p.Gly1115Ser) c.1240G>A (p.Gly414Ser) c.3682G>A (p.Gly1228Ser) c.2002G>A (p.Gly668Ser) | COSMIC COSMIC |
| X | g.108668381G>C | CA413848598 | COL4A5 | c.3667G>C (p.Gly1223Arg) c.3343G>C (p.Gly1115Arg) c.1240G>C (p.Gly414Arg) c.3682G>C (p.Gly1228Arg) c.2002G>C (p.Gly668Arg) | |
| X | g.108668381G>T | CA413848601 | COL4A5 | c.3667G>T (p.Gly1223Cys) c.3343G>T (p.Gly1115Cys) c.1240G>T (p.Gly414Cys) c.3682G>T (p.Gly1228Cys) c.2002G>T (p.Gly668Cys) | |
| X | g.108668382G>A | CA413848611 | COL4A5 | c.3668G>A (p.Gly1223Asp) c.3344G>A (p.Gly1115Asp) c.1241G>A (p.Gly414Asp) c.3683G>A (p.Gly1228Asp) c.2003G>A (p.Gly668Asp) | ClinVar dbSNP |
| X | g.108668382G>C | CA413848607 | COL4A5 | c.3668G>C (p.Gly1223Ala) c.3344G>C (p.Gly1115Ala) c.1241G>C (p.Gly414Ala) c.3683G>C (p.Gly1228Ala) c.2003G>C (p.Gly668Ala) | |
| X | g.108668382G= | CA2450712941 | COL4A5 | c.3668G= (p.Gly1223=) c.3344G= (p.Gly1115=) c.1241G= (p.Gly414=) c.3683G= (p.Gly1228=) c.2003G= (p.Gly668=) | |
| X | g.108668382G>T | CA258925 | COL4A5 | c.3668G>T (p.Gly1223Val) c.3344G>T (p.Gly1115Val) c.1241G>T (p.Gly414Val) c.3683G>T (p.Gly1228Val) c.2003G>T (p.Gly668Val) | dbSNP |
| X | g.108668383C>A | CA517922668 | COL4A5 | c.3669C>A (p.Gly1223=) c.3345C>A (p.Gly1115=) c.1242C>A (p.Gly414=) c.3684C>A (p.Gly1228=) c.2004C>A (p.Gly668=) | ClinVar |
| X | g.108668383C= | CA2450712942 | COL4A5 | c.3669C= (p.Gly1223=) c.3345C= (p.Gly1115=) c.1242C= (p.Gly414=) c.3684C= (p.Gly1228=) c.2004C= (p.Gly668=) | |
| X | g.108668383C>G | CA517922669 | COL4A5 | c.3669C>G (p.Gly1223=) c.3345C>G (p.Gly1115=) c.1242C>G (p.Gly414=) c.3684C>G (p.Gly1228=) c.2004C>G (p.Gly668=) | |
| X | g.108668383C>T | CA10489157 | COL4A5 | c.3669C>T (p.Gly1223=) c.3345C>T (p.Gly1115=) c.1242C>T (p.Gly414=) c.3684C>T (p.Gly1228=) c.2004C>T (p.Gly668=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108668384G>A | CA413848622 | COL4A5 | c.3670G>A (p.Glu1224Lys) c.3346G>A (p.Glu1116Lys) c.1243G>A (p.Glu415Lys) c.3685G>A (p.Glu1229Lys) c.2005G>A (p.Glu669Lys) | dbSNP gnomAD v4 COSMIC COSMIC |