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.108666560T>A | CA517922386 | COL4A5 | c.3519T>A (p.Gly1173=) c.3195T>A (p.Gly1065=) c.1092T>A (p.Gly364=) c.3534T>A (p.Gly1178=) c.1854T>A (p.Gly618=) | |
| X | g.108666560T>C | CA517922388 | COL4A5 | c.3519T>C (p.Gly1173=) c.3195T>C (p.Gly1065=) c.1092T>C (p.Gly364=) c.3534T>C (p.Gly1178=) c.1854T>C (p.Gly618=) | |
| X | g.108666560T>G | CA10489125 | COL4A5 | c.3519T>G (p.Gly1173=) c.3195T>G (p.Gly1065=) c.1092T>G (p.Gly364=) c.3534T>G (p.Gly1178=) c.1854T>G (p.Gly618=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108666560T= | CA2450712341 | COL4A5 | c.3519T= (p.Gly1173=) c.3195T= (p.Gly1065=) c.1092T= (p.Gly364=) c.3534T= (p.Gly1178=) c.1854T= (p.Gly618=) | |
| X | g.108666560_108666561insTTT | CA517922384 | COL4A5 | c.3519_3520insTTT (p.Gly1173_Ile1174insPhe) c.3195_3196insTTT (p.Gly1065_Ile1066insPhe) c.1092_1093insTTT (p.Gly364_Ile365insPhe) c.3534_3535insTTT (p.Gly1178_Ile1179insPhe) c.1854_1855insTTT (p.Gly618_Ile619insPhe) | |
| X | g.108666561A>C | CA413847796 | COL4A5 | c.3520A>C (p.Ile1174Leu) c.3196A>C (p.Ile1066Leu) c.1093A>C (p.Ile365Leu) c.3535A>C (p.Ile1179Leu) c.1855A>C (p.Ile619Leu) | |
| X | g.108666561A>G | CA413847798 | COL4A5 | c.3520A>G (p.Ile1174Val) c.3196A>G (p.Ile1066Val) c.1093A>G (p.Ile365Val) c.3535A>G (p.Ile1179Val) c.1855A>G (p.Ile619Val) | |
| X | g.108666561A>T | CA413847797 | COL4A5 | c.3520A>T (p.Ile1174Phe) c.3196A>T (p.Ile1066Phe) c.1093A>T (p.Ile365Phe) c.3535A>T (p.Ile1179Phe) c.1855A>T (p.Ile619Phe) | |
| X | g.108666562T>A | CA413847799 | COL4A5 | c.3521T>A (p.Ile1174Asn) c.3197T>A (p.Ile1066Asn) c.1094T>A (p.Ile365Asn) c.3536T>A (p.Ile1179Asn) c.1856T>A (p.Ile619Asn) | |
| X | g.108666562T>C | CA413847800 | COL4A5 | c.3521T>C (p.Ile1174Thr) c.3197T>C (p.Ile1066Thr) c.1094T>C (p.Ile365Thr) c.3536T>C (p.Ile1179Thr) c.1856T>C (p.Ile619Thr) | |
| X | g.108666562T>G | CA413847801 | COL4A5 | c.3521T>G (p.Ile1174Ser) c.3197T>G (p.Ile1066Ser) c.1094T>G (p.Ile365Ser) c.3536T>G (p.Ile1179Ser) c.1856T>G (p.Ile619Ser) | |
| X | g.108666563T>A | CA517922394 | COL4A5 | c.3522T>A (p.Ile1174=) c.3198T>A (p.Ile1066=) c.1095T>A (p.Ile365=) c.3537T>A (p.Ile1179=) c.1857T>A (p.Ile619=) | |
| X | g.108666563T>C | CA517922392 | COL4A5 | c.3522T>C (p.Ile1174=) c.3198T>C (p.Ile1066=) c.1095T>C (p.Ile365=) c.3537T>C (p.Ile1179=) c.1857T>C (p.Ile619=) | |
| X | g.108666563T>G | CA413847802 | COL4A5 | c.3522T>G (p.Ile1174Met) c.3198T>G (p.Ile1066Met) c.1095T>G (p.Ile365Met) c.3537T>G (p.Ile1179Met) c.1857T>G (p.Ile619Met) | |
| X | g.108666564C>A | CA413847808 | COL4A5 | c.3523C>A (p.Pro1175Thr) c.3199C>A (p.Pro1067Thr) c.1096C>A (p.Pro366Thr) c.3538C>A (p.Pro1180Thr) c.1858C>A (p.Pro620Thr) | gnomAD v4 |
| X | g.108666564C>G | CA413847805 | COL4A5 | c.3523C>G (p.Pro1175Ala) c.3199C>G (p.Pro1067Ala) c.1096C>G (p.Pro366Ala) c.3538C>G (p.Pro1180Ala) c.1858C>G (p.Pro620Ala) | |
| X | g.108666564C>T | CA413847806 | COL4A5 | c.3523C>T (p.Pro1175Ser) c.3199C>T (p.Pro1067Ser) c.1096C>T (p.Pro366Ser) c.3538C>T (p.Pro1180Ser) c.1858C>T (p.Pro620Ser) | gnomAD v4 COSMIC |
| X | g.108666565C>A | CA413847810 | COL4A5 | c.3524C>A (p.Pro1175His) c.3200C>A (p.Pro1067His) c.1097C>A (p.Pro366His) c.3539C>A (p.Pro1180His) c.1859C>A (p.Pro620His) | |
| X | g.108666565C>G | CA413847811 | COL4A5 | c.3524C>G (p.Pro1175Arg) c.3200C>G (p.Pro1067Arg) c.1097C>G (p.Pro366Arg) c.3539C>G (p.Pro1180Arg) c.1859C>G (p.Pro620Arg) | |
| X | g.108666565C>T | CA413847812 | COL4A5 | c.3524C>T (p.Pro1175Leu) c.3200C>T (p.Pro1067Leu) c.1097C>T (p.Pro366Leu) c.3539C>T (p.Pro1180Leu) c.1859C>T (p.Pro620Leu) | |
| X | g.108666566_108666570dup | CA2695235647 | COL4A5 | c.3525_3529dup (p.Pro1177LeufsTer?) c.3201_3205dup (p.Pro1069LeufsTer?) c.1098_1102dup (p.Pro368LeufsTer?) c.3540_3544dup (p.Pro1182LeufsTer?) c.1860_1864dup (p.Pro622LeufsTer?) | |
| X | g.108666566T>A | CA517922395 | COL4A5 | c.3525T>A (p.Pro1175=) c.3201T>A (p.Pro1067=) c.1098T>A (p.Pro366=) c.3540T>A (p.Pro1180=) c.1860T>A (p.Pro620=) | |
| X | g.108666566T>C | CA517922396 | COL4A5 | c.3525T>C (p.Pro1175=) c.3201T>C (p.Pro1067=) c.1098T>C (p.Pro366=) c.3540T>C (p.Pro1180=) c.1860T>C (p.Pro620=) | |
| X | g.108666566T>G | CA517922398 | COL4A5 | c.3525T>G (p.Pro1175=) c.3201T>G (p.Pro1067=) c.1098T>G (p.Pro366=) c.3540T>G (p.Pro1180=) c.1860T>G (p.Pro620=) | |
| X | g.108666566_108666567delinsTG | CA2450712342 | COL4A5 | c.3525_3526delinsTG (p.Pro1175=) c.3201_3202delinsTG (p.Pro1067=) c.1098_1099delinsTG (p.Pro366=) c.3540_3541delinsTG (p.Pro1180=) c.1860_1861delinsTG (p.Pro620=) | |
| X | g.108666567G>A | CA413847815 | COL4A5 | c.3526G>A (p.Gly1176Arg) c.3202G>A (p.Gly1068Arg) c.1099G>A (p.Gly367Arg) c.3541G>A (p.Gly1181Arg) c.1861G>A (p.Gly621Arg) | ClinVar |
| X | g.108666567G>C | CA413847817 | COL4A5 | c.3526G>C (p.Gly1176Arg) c.3202G>C (p.Gly1068Arg) c.1099G>C (p.Gly367Arg) c.3541G>C (p.Gly1181Arg) c.1861G>C (p.Gly621Arg) | |
| X | g.108666567G= | CA2450712343 | COL4A5 | c.3526G= (p.Gly1176=) c.3202G= (p.Gly1068=) c.1099G= (p.Gly367=) c.3541G= (p.Gly1181=) c.1861G= (p.Gly621=) | |
| X | g.108666567G>T | CA413847818 | COL4A5 | c.3526G>T (p.Gly1176Ter) c.3202G>T (p.Gly1068Ter) c.1099G>T (p.Gly367Ter) c.3541G>T (p.Gly1181Ter) c.1861G>T (p.Gly621Ter) | |
| X | g.108666568del | CA258884 | COL4A5 | c.3527del (p.Gly1176AspfsTer?) c.3203del (p.Gly1068AspfsTer?) c.1100del (p.Gly367AspfsTer?) c.3542del (p.Gly1181AspfsTer?) c.1862del (p.Gly621AspfsTer?) | dbSNP |
| X | g.108666568G>A | CA10604411 | COL4A5 | c.3527G>A (p.Gly1176Glu) c.3203G>A (p.Gly1068Glu) c.1100G>A (p.Gly367Glu) c.3542G>A (p.Gly1181Glu) c.1862G>A (p.Gly621Glu) | ClinVar dbSNP |
| X | g.108666568G>C | CA413847823 | COL4A5 | c.3527G>C (p.Gly1176Ala) c.3203G>C (p.Gly1068Ala) c.1100G>C (p.Gly367Ala) c.3542G>C (p.Gly1181Ala) c.1862G>C (p.Gly621Ala) | |
| X | g.108666568G= | CA2450712344 | COL4A5 | c.3527G= (p.Gly1176=) c.3203G= (p.Gly1068=) c.1100G= (p.Gly367=) c.3542G= (p.Gly1181=) c.1862G= (p.Gly621=) | |
| X | g.108666568G>T | CA413847824 | COL4A5 | c.3527G>T (p.Gly1176Val) c.3203G>T (p.Gly1068Val) c.1100G>T (p.Gly367Val) c.3542G>T (p.Gly1181Val) c.1862G>T (p.Gly621Val) | |
| X | g.108666569A>C | CA517922402 | COL4A5 | c.3528A>C (p.Gly1176=) c.3204A>C (p.Gly1068=) c.1101A>C (p.Gly367=) c.3543A>C (p.Gly1181=) c.1863A>C (p.Gly621=) | |
| X | g.108666569A>G | CA517922403 | COL4A5 | c.3528A>G (p.Gly1176=) c.3204A>G (p.Gly1068=) c.1101A>G (p.Gly367=) c.3543A>G (p.Gly1181=) c.1863A>G (p.Gly621=) | gnomAD v4 |
| X | g.108666569A>T | CA517922404 | COL4A5 | c.3528A>T (p.Gly1176=) c.3204A>T (p.Gly1068=) c.1101A>T (p.Gly367=) c.3543A>T (p.Gly1181=) c.1863A>T (p.Gly621=) | |
| X | g.108666570C>A | CA413847826 | COL4A5 | c.3529C>A (p.Pro1177Thr) c.3205C>A (p.Pro1069Thr) c.1102C>A (p.Pro368Thr) c.3544C>A (p.Pro1182Thr) c.1864C>A (p.Pro622Thr) | |
| X | g.108666570C>G | CA413847829 | COL4A5 | c.3529C>G (p.Pro1177Ala) c.3205C>G (p.Pro1069Ala) c.1102C>G (p.Pro368Ala) c.3544C>G (p.Pro1182Ala) c.1864C>G (p.Pro622Ala) | gnomAD v4 |
| X | g.108666570C>T | CA413847831 | COL4A5 | c.3529C>T (p.Pro1177Ser) c.3205C>T (p.Pro1069Ser) c.1102C>T (p.Pro368Ser) c.3544C>T (p.Pro1182Ser) c.1864C>T (p.Pro622Ser) | |
| X | g.108666571C>A | CA10489126 | COL4A5 | c.3530C>A (p.Pro1177Gln) c.3206C>A (p.Pro1069Gln) c.1103C>A (p.Pro368Gln) c.3545C>A (p.Pro1182Gln) c.1865C>A (p.Pro622Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.108666571C= | CA2450712345 | COL4A5 | c.3530C= (p.Pro1177=) c.3206C= (p.Pro1069=) c.1103C= (p.Pro368=) c.3545C= (p.Pro1182=) c.1865C= (p.Pro622=) | |
| X | g.108666571C>G | CA413847836 | COL4A5 | c.3530C>G (p.Pro1177Arg) c.3206C>G (p.Pro1069Arg) c.1103C>G (p.Pro368Arg) c.3545C>G (p.Pro1182Arg) c.1865C>G (p.Pro622Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.108666571C>T | CA413847834 | COL4A5 | c.3530C>T (p.Pro1177Leu) c.3206C>T (p.Pro1069Leu) c.1103C>T (p.Pro368Leu) c.3545C>T (p.Pro1182Leu) c.1865C>T (p.Pro622Leu) | |
| X | g.108666572A>C | CA517922409 | COL4A5 | c.3531A>C (p.Pro1177=) c.3207A>C (p.Pro1069=) c.1104A>C (p.Pro368=) c.3546A>C (p.Pro1182=) c.1866A>C (p.Pro622=) | |
| X | g.108666572A>G | CA517922406 | COL4A5 | c.3531A>G (p.Pro1177=) c.3207A>G (p.Pro1069=) c.1104A>G (p.Pro368=) c.3546A>G (p.Pro1182=) c.1866A>G (p.Pro622=) | |
| X | g.108666572A>T | CA517922408 | COL4A5 | c.3531A>T (p.Pro1177=) c.3207A>T (p.Pro1069=) c.1104A>T (p.Pro368=) c.3546A>T (p.Pro1182=) c.1866A>T (p.Pro622=) | |
| X | g.108666573G>A | CA413847838 | COL4A5 | c.3532G>A (p.Ala1178Thr) c.3208G>A (p.Ala1070Thr) c.1105G>A (p.Ala369Thr) c.3547G>A (p.Ala1183Thr) c.1867G>A (p.Ala623Thr) | |
| X | g.108666573G>C | CA413847840 | COL4A5 | c.3532G>C (p.Ala1178Pro) c.3208G>C (p.Ala1070Pro) c.1105G>C (p.Ala369Pro) c.3547G>C (p.Ala1183Pro) c.1867G>C (p.Ala623Pro) | |
| X | g.108666573G>T | CA413847842 | COL4A5 | c.3532G>T (p.Ala1178Ser) c.3208G>T (p.Ala1070Ser) c.1105G>T (p.Ala369Ser) c.3547G>T (p.Ala1183Ser) c.1867G>T (p.Ala623Ser) |