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 |
|---|---|---|---|---|---|
| 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.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 |
| X | g.108668384G>C | CA413848617 | COL4A5 | c.3670G>C (p.Glu1224Gln) c.3346G>C (p.Glu1116Gln) c.1243G>C (p.Glu415Gln) c.3685G>C (p.Glu1229Gln) c.2005G>C (p.Glu669Gln) | |
| X | g.108668384G= | CA2450712943 | COL4A5 | c.3670G= (p.Glu1224=) c.3346G= (p.Glu1116=) c.1243G= (p.Glu415=) c.3685G= (p.Glu1229=) c.2005G= (p.Glu669=) | |
| X | g.108668384G>T | CA413848619 | COL4A5 | c.3670G>T (p.Glu1224Ter) c.3346G>T (p.Glu1116Ter) c.1243G>T (p.Glu415Ter) c.3685G>T (p.Glu1229Ter) c.2005G>T (p.Glu669Ter) | ClinVar dbSNP |
| X | g.108668385A>C | CA413848625 | COL4A5 | c.3671A>C (p.Glu1224Ala) c.3347A>C (p.Glu1116Ala) c.1244A>C (p.Glu415Ala) c.3686A>C (p.Glu1229Ala) c.2006A>C (p.Glu669Ala) | |
| X | g.108668385A>G | CA413848628 | COL4A5 | c.3671A>G (p.Glu1224Gly) c.3347A>G (p.Glu1116Gly) c.1244A>G (p.Glu415Gly) c.3686A>G (p.Glu1229Gly) c.2006A>G (p.Glu669Gly) | |
| X | g.108668385A>T | CA413848630 | COL4A5 | c.3671A>T (p.Glu1224Val) c.3347A>T (p.Glu1116Val) c.1244A>T (p.Glu415Val) c.3686A>T (p.Glu1229Val) c.2006A>T (p.Glu669Val) | |
| X | g.108668386del | CA2739289608 | COL4A5 | c.3672del (p.Glu1224AspfsTer?) c.3348del (p.Glu1116AspfsTer?) c.1245del (p.Glu415AspfsTer?) c.3687del (p.Glu1229AspfsTer?) c.2007del (p.Glu669AspfsTer?) | |
| X | g.108668386A>C | CA413848633 | COL4A5 | c.3672A>C (p.Glu1224Asp) c.3348A>C (p.Glu1116Asp) c.1245A>C (p.Glu415Asp) c.3687A>C (p.Glu1229Asp) c.2007A>C (p.Glu669Asp) | |
| X | g.108668386A>G | CA517922670 | COL4A5 | c.3672A>G (p.Glu1224=) c.3348A>G (p.Glu1116=) c.1245A>G (p.Glu415=) c.3687A>G (p.Glu1229=) c.2007A>G (p.Glu669=) | |
| X | g.108668386A>T | CA413848635 | COL4A5 | c.3672A>T (p.Glu1224Asp) c.3348A>T (p.Glu1116Asp) c.1245A>T (p.Glu415Asp) c.3687A>T (p.Glu1229Asp) c.2007A>T (p.Glu669Asp) | |
| X | g.108668387C>A | CA413848638 | COL4A5 | c.3673C>A (p.Pro1225Thr) c.3349C>A (p.Pro1117Thr) c.1246C>A (p.Pro416Thr) c.3688C>A (p.Pro1230Thr) c.2008C>A (p.Pro670Thr) | |
| X | g.108668387C>G | CA413848641 | COL4A5 | c.3673C>G (p.Pro1225Ala) c.3349C>G (p.Pro1117Ala) c.1246C>G (p.Pro416Ala) c.3688C>G (p.Pro1230Ala) c.2008C>G (p.Pro670Ala) | |
| X | g.108668387C>T | CA413848643 | COL4A5 | c.3673C>T (p.Pro1225Ser) c.3349C>T (p.Pro1117Ser) c.1246C>T (p.Pro416Ser) c.3688C>T (p.Pro1230Ser) c.2008C>T (p.Pro670Ser) | |
| X | g.108668388C>A | CA413848647 | COL4A5 | c.3674C>A (p.Pro1225Gln) c.3350C>A (p.Pro1117Gln) c.1247C>A (p.Pro416Gln) c.3689C>A (p.Pro1230Gln) c.2009C>A (p.Pro670Gln) | |
| X | g.108668388C>G | CA413848650 | COL4A5 | c.3674C>G (p.Pro1225Arg) c.3350C>G (p.Pro1117Arg) c.1247C>G (p.Pro416Arg) c.3689C>G (p.Pro1230Arg) c.2009C>G (p.Pro670Arg) | |
| X | g.108668388C>T | CA413848652 | COL4A5 | c.3674C>T (p.Pro1225Leu) c.3350C>T (p.Pro1117Leu) c.1247C>T (p.Pro416Leu) c.3689C>T (p.Pro1230Leu) c.2009C>T (p.Pro670Leu) | |
| X | g.108668389A>C | CA517922673 | COL4A5 | c.3675A>C (p.Pro1225=) c.3351A>C (p.Pro1117=) c.1248A>C (p.Pro416=) c.3690A>C (p.Pro1230=) c.2010A>C (p.Pro670=) | |
| X | g.108668389A>G | CA517922672 | COL4A5 | c.3675A>G (p.Pro1225=) c.3351A>G (p.Pro1117=) c.1248A>G (p.Pro416=) c.3690A>G (p.Pro1230=) c.2010A>G (p.Pro670=) | |
| X | g.108668389A>T | CA517922671 | COL4A5 | c.3675A>T (p.Pro1225=) c.3351A>T (p.Pro1117=) c.1248A>T (p.Pro416=) c.3690A>T (p.Pro1230=) c.2010A>T (p.Pro670=) | |
| X | g.108668390G>A | CA413848661 | COL4A5 | c.3676G>A (p.Gly1226Ser) c.3352G>A (p.Gly1118Ser) c.1249G>A (p.Gly417Ser) c.3691G>A (p.Gly1231Ser) c.2011G>A (p.Gly671Ser) | |
| X | g.108668390G>C | CA413848656 | COL4A5 | c.3676G>C (p.Gly1226Arg) c.3352G>C (p.Gly1118Arg) c.1249G>C (p.Gly417Arg) c.3691G>C (p.Gly1231Arg) c.2011G>C (p.Gly671Arg) | |
| X | g.108668390G>T | CA413848658 | COL4A5 | c.3676G>T (p.Gly1226Cys) c.3352G>T (p.Gly1118Cys) c.1249G>T (p.Gly417Cys) c.3691G>T (p.Gly1231Cys) c.2011G>T (p.Gly671Cys) | |
| X | g.108668391G>A | CA413848665 | COL4A5 | c.3677G>A (p.Gly1226Asp) c.3353G>A (p.Gly1118Asp) c.1250G>A (p.Gly417Asp) c.3692G>A (p.Gly1231Asp) c.2012G>A (p.Gly671Asp) | |
| X | g.108668391G>C | CA413848666 | COL4A5 | c.3677G>C (p.Gly1226Ala) c.3353G>C (p.Gly1118Ala) c.1250G>C (p.Gly417Ala) c.3692G>C (p.Gly1231Ala) c.2012G>C (p.Gly671Ala) | |
| X | g.108668391G>T | CA413848670 | COL4A5 | c.3677G>T (p.Gly1226Val) c.3353G>T (p.Gly1118Val) c.1250G>T (p.Gly417Val) c.3692G>T (p.Gly1231Val) c.2012G>T (p.Gly671Val) | |
| X | g.108668392C>A | CA517922674 | COL4A5 | c.3678C>A (p.Gly1226=) c.3354C>A (p.Gly1118=) c.1251C>A (p.Gly417=) c.3693C>A (p.Gly1231=) c.2013C>A (p.Gly671=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.108668392C= | CA2450712944 | COL4A5 | c.3678C= (p.Gly1226=) c.3354C= (p.Gly1118=) c.1251C= (p.Gly417=) c.3693C= (p.Gly1231=) c.2013C= (p.Gly671=) | |
| X | g.108668392C>G | CA517922675 | COL4A5 | c.3678C>G (p.Gly1226=) c.3354C>G (p.Gly1118=) c.1251C>G (p.Gly417=) c.3693C>G (p.Gly1231=) c.2013C>G (p.Gly671=) | |
| X | g.108668392C>T | CA517922676 | COL4A5 | c.3678C>T (p.Gly1226=) c.3354C>T (p.Gly1118=) c.1251C>T (p.Gly417=) c.3693C>T (p.Gly1231=) c.2013C>T (p.Gly671=) | |
| X | g.108668393T>A | CA413848674 | COL4A5 | c.3679T>A (p.Phe1227Ile) c.3355T>A (p.Phe1119Ile) c.1252T>A (p.Phe418Ile) c.3694T>A (p.Phe1232Ile) c.2014T>A (p.Phe672Ile) | |
| X | g.108668393T>C | CA413848676 | COL4A5 | c.3679T>C (p.Phe1227Leu) c.3355T>C (p.Phe1119Leu) c.1252T>C (p.Phe418Leu) c.3694T>C (p.Phe1232Leu) c.2014T>C (p.Phe672Leu) | |
| X | g.108668393T>G | CA413848677 | COL4A5 | c.3679T>G (p.Phe1227Val) c.3355T>G (p.Phe1119Val) c.1252T>G (p.Phe418Val) c.3694T>G (p.Phe1232Val) c.2014T>G (p.Phe672Val) | gnomAD v4 |
| X | g.108668394T>A | CA413848680 | COL4A5 | c.3680T>A (p.Phe1227Tyr) c.3356T>A (p.Phe1119Tyr) c.1253T>A (p.Phe418Tyr) c.3695T>A (p.Phe1232Tyr) c.2015T>A (p.Phe672Tyr) | |
| X | g.108668394T>C | CA413848683 | COL4A5 | c.3680T>C (p.Phe1227Ser) c.3356T>C (p.Phe1119Ser) c.1253T>C (p.Phe418Ser) c.3695T>C (p.Phe1232Ser) c.2015T>C (p.Phe672Ser) | ClinVar gnomAD v4 |
| X | g.108668394T>G | CA413848684 | COL4A5 | c.3680T>G (p.Phe1227Cys) c.3356T>G (p.Phe1119Cys) c.1253T>G (p.Phe418Cys) c.3695T>G (p.Phe1232Cys) c.2015T>G (p.Phe672Cys) | |
| X | g.108668395T>A | CA413848689 | COL4A5 | c.3681T>A (p.Phe1227Leu) c.3357T>A (p.Phe1119Leu) c.1254T>A (p.Phe418Leu) c.3696T>A (p.Phe1232Leu) c.2016T>A (p.Phe672Leu) | |
| X | g.108668395T>C | CA517922677 | COL4A5 | c.3681T>C (p.Phe1227=) c.3357T>C (p.Phe1119=) c.1254T>C (p.Phe418=) c.3696T>C (p.Phe1232=) c.2016T>C (p.Phe672=) |