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 |
|---|---|---|---|---|---|
| 4 | g.101918136A>C | CA357956375 | BANK1 | c.1153A>C (p.Ile385Leu) c.754A>C (p.Ile252Leu) c.1063A>C (p.Ile355Leu) c.1108A>C (p.Ile370Leu) | |
| 4 | g.101918136A>G | CA357956376 | BANK1 | c.1153A>G (p.Ile385Val) c.754A>G (p.Ile252Val) c.1063A>G (p.Ile355Val) c.1108A>G (p.Ile370Val) | gnomAD v4 |
| 4 | g.101918136A>T | CA357956374 | BANK1 | c.1153A>T (p.Ile385Phe) c.754A>T (p.Ile252Phe) c.1063A>T (p.Ile355Phe) c.1108A>T (p.Ile370Phe) | |
| 4 | g.101918137T>A | CA357956377 | BANK1 | c.1154T>A (p.Ile385Asn) c.755T>A (p.Ile252Asn) c.1064T>A (p.Ile355Asn) c.1109T>A (p.Ile370Asn) | |
| 4 | g.101918137T>C | CA357956378 | BANK1 | c.1154T>C (p.Ile385Thr) c.755T>C (p.Ile252Thr) c.1064T>C (p.Ile355Thr) c.1109T>C (p.Ile370Thr) | gnomAD v4 |
| 4 | g.101918137T>G | CA357956379 | BANK1 | c.1154T>G (p.Ile385Ser) c.755T>G (p.Ile252Ser) c.1064T>G (p.Ile355Ser) c.1109T>G (p.Ile370Ser) | |
| 4 | g.101918138T>A | CA440606637 | BANK1 | c.1155T>A (p.Ile385=) c.756T>A (p.Ile252=) c.1065T>A (p.Ile355=) c.1110T>A (p.Ile370=) | |
| 4 | g.101918138T>C | CA440606638 | BANK1 | c.1155T>C (p.Ile385=) c.756T>C (p.Ile252=) c.1065T>C (p.Ile355=) c.1110T>C (p.Ile370=) | gnomAD v4 |
| 4 | g.101918138T>G | CA357956380 | BANK1 | c.1155T>G (p.Ile385Met) c.756T>G (p.Ile252Met) c.1065T>G (p.Ile355Met) c.1110T>G (p.Ile370Met) | |
| 4 | g.101918139G>A | CA357956382 | BANK1 | c.1156G>A (p.Ala386Thr) c.757G>A (p.Ala253Thr) c.1066G>A (p.Ala356Thr) c.1111G>A (p.Ala371Thr) | |
| 4 | g.101918139G>C | CA357956381 | BANK1 | c.1156G>C (p.Ala386Pro) c.757G>C (p.Ala253Pro) c.1066G>C (p.Ala356Pro) c.1111G>C (p.Ala371Pro) | |
| 4 | g.101918139G= | CA1481138709 | BANK1 | c.1156G= (p.Ala386=) c.757G= (p.Ala253=) c.1066G= (p.Ala356=) c.1111G= (p.Ala371=) | |
| 4 | g.101918139G>T | CA3025030 | BANK1 | c.1156G>T (p.Ala386Ser) c.757G>T (p.Ala253Ser) c.1066G>T (p.Ala356Ser) c.1111G>T (p.Ala371Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.101918140C>A | CA357956383 | BANK1 | c.1157C>A (p.Ala386Asp) c.758C>A (p.Ala253Asp) c.1067C>A (p.Ala356Asp) c.1112C>A (p.Ala371Asp) | gnomAD v4 |
| 4 | g.101918140C>G | CA357956384 | BANK1 | c.1157C>G (p.Ala386Gly) c.758C>G (p.Ala253Gly) c.1067C>G (p.Ala356Gly) c.1112C>G (p.Ala371Gly) | |
| 4 | g.101918140C>T | CA357956385 | BANK1 | c.1157C>T (p.Ala386Val) c.758C>T (p.Ala253Val) c.1067C>T (p.Ala356Val) c.1112C>T (p.Ala371Val) | gnomAD v4 |
| 4 | g.101918141T>A | CA440606639 | BANK1 | c.1158T>A (p.Ala386=) c.759T>A (p.Ala253=) c.1068T>A (p.Ala356=) c.1113T>A (p.Ala371=) | |
| 4 | g.101918141T>C | CA440606640 | BANK1 | c.1158T>C (p.Ala386=) c.759T>C (p.Ala253=) c.1068T>C (p.Ala356=) c.1113T>C (p.Ala371=) | gnomAD v4 |
| 4 | g.101918141T>G | CA440606641 | BANK1 | c.1158T>G (p.Ala386=) c.759T>G (p.Ala253=) c.1068T>G (p.Ala356=) c.1113T>G (p.Ala371=) | gnomAD v4 |
| 4 | g.101918142G>A | CA3025031 | BANK1 | c.1159G>A (p.Glu387Lys) c.760G>A (p.Glu254Lys) c.1069G>A (p.Glu357Lys) c.1114G>A (p.Glu372Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.101918142G>C | CA357956386 | BANK1 | c.1159G>C (p.Glu387Gln) c.760G>C (p.Glu254Gln) c.1069G>C (p.Glu357Gln) c.1114G>C (p.Glu372Gln) | |
| 4 | g.101918142G= | CA1481138710 | BANK1 | c.1159G= (p.Glu387=) c.760G= (p.Glu254=) c.1069G= (p.Glu357=) c.1114G= (p.Glu372=) | |
| 4 | g.101918142G>T | CA357956387 | BANK1 | c.1159G>T (p.Glu387Ter) c.760G>T (p.Glu254Ter) c.1069G>T (p.Glu357Ter) c.1114G>T (p.Glu372Ter) | gnomAD v4 |
| 4 | g.101918143A>C | CA357956388 | BANK1 | c.1160A>C (p.Glu387Ala) c.761A>C (p.Glu254Ala) c.1070A>C (p.Glu357Ala) c.1115A>C (p.Glu372Ala) | |
| 4 | g.101918143A>G | CA357956390 | BANK1 | c.1160A>G (p.Glu387Gly) c.761A>G (p.Glu254Gly) c.1070A>G (p.Glu357Gly) c.1115A>G (p.Glu372Gly) | |
| 4 | g.101918143A>T | CA357956389 | BANK1 | c.1160A>T (p.Glu387Val) c.761A>T (p.Glu254Val) c.1070A>T (p.Glu357Val) c.1115A>T (p.Glu372Val) | |
| 4 | g.101918145del | CA2671564686 | BANK1 | c.1162del (p.Arg388GlyfsTer21) c.763del (p.Arg255GlyfsTer21) c.1072del (p.Arg358GlyfsTer21) c.1117del (p.Arg373GlyfsTer21) | gnomAD v4 |
| 4 | g.101918144A>C | CA357956391 | BANK1 | c.1161A>C (p.Glu387Asp) c.762A>C (p.Glu254Asp) c.1071A>C (p.Glu357Asp) c.1116A>C (p.Glu372Asp) | |
| 4 | g.101918144A>G | CA440606642 | BANK1 | c.1161A>G (p.Glu387=) c.762A>G (p.Glu254=) c.1071A>G (p.Glu357=) c.1116A>G (p.Glu372=) | gnomAD v4 |
| 4 | g.101918144A>T | CA357956392 | BANK1 | c.1161A>T (p.Glu387Asp) c.762A>T (p.Glu254Asp) c.1071A>T (p.Glu357Asp) c.1116A>T (p.Glu372Asp) | |
| 4 | g.101918145A= | CA1481138711 | BANK1 | c.1162A= (p.Arg388=) c.763A= (p.Arg255=) c.1072A= (p.Arg358=) c.1117A= (p.Arg373=) | |
| 4 | g.101918145A>C | CA440606643 | BANK1 | c.1162A>C (p.Arg388=) c.763A>C (p.Arg255=) c.1072A>C (p.Arg358=) c.1117A>C (p.Arg373=) | |
| 4 | g.101918145A>G | CA357956393 | BANK1 | c.1162A>G (p.Arg388Gly) c.763A>G (p.Arg255Gly) c.1072A>G (p.Arg358Gly) c.1117A>G (p.Arg373Gly) | dbSNP gnomAD v4 |
| 4 | g.101918145A>T | CA357956394 | BANK1 | c.1162A>T (p.Arg388Trp) c.763A>T (p.Arg255Trp) c.1072A>T (p.Arg358Trp) c.1117A>T (p.Arg373Trp) | |
| 4 | g.101918146G>A | CA357956395 | BANK1 | c.1163G>A (p.Arg388Lys) c.764G>A (p.Arg255Lys) c.1073G>A (p.Arg358Lys) c.1118G>A (p.Arg373Lys) | |
| 4 | g.101918146G>C | CA357956396 | BANK1 | c.1163G>C (p.Arg388Thr) c.764G>C (p.Arg255Thr) c.1073G>C (p.Arg358Thr) c.1118G>C (p.Arg373Thr) | |
| 4 | g.101918146G= | CA1481138712 | BANK1 | c.1163G= (p.Arg388=) c.764G= (p.Arg255=) c.1073G= (p.Arg358=) c.1118G= (p.Arg373=) | |
| 4 | g.101918146G>T | CA3025032 | BANK1 | c.1163G>T (p.Arg388Met) c.764G>T (p.Arg255Met) c.1073G>T (p.Arg358Met) c.1118G>T (p.Arg373Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.101918147G>A | CA440606644 | BANK1 | c.1164G>A (p.Arg388=) c.765G>A (p.Arg255=) c.1074G>A (p.Arg358=) c.1119G>A (p.Arg373=) | dbSNP gnomAD v4 |
| 4 | g.101918147G>C | CA357956397 | BANK1 | c.1164G>C (p.Arg388Ser) c.765G>C (p.Arg255Ser) c.1074G>C (p.Arg358Ser) c.1119G>C (p.Arg373Ser) | gnomAD v4 |
| 4 | g.101918147G>T | CA357956398 | BANK1 | c.1164G>T (p.Arg388Ser) c.765G>T (p.Arg255Ser) c.1074G>T (p.Arg358Ser) c.1119G>T (p.Arg373Ser) | |
| 4 | g.101918148C>A | CA357956399 | BANK1 | c.1165C>A (p.His389Asn) c.766C>A (p.His256Asn) c.1075C>A (p.His359Asn) c.1120C>A (p.His374Asn) | gnomAD v4 |
| 4 | g.101918148C= | CA1481138713 | BANK1 | c.1165C= (p.His389=) c.766C= (p.His256=) c.1075C= (p.His359=) c.1120C= (p.His374=) | |
| 4 | g.101918148C>G | CA357956400 | BANK1 | c.1165C>G (p.His389Asp) c.766C>G (p.His256Asp) c.1075C>G (p.His359Asp) c.1120C>G (p.His374Asp) | |
| 4 | g.101918148C>T | CA103070479 | BANK1 | c.1165C>T (p.His389Tyr) c.766C>T (p.His256Tyr) c.1075C>T (p.His359Tyr) c.1120C>T (p.His374Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.101918149A>C | CA357956401 | BANK1 | c.1166A>C (p.His389Pro) c.767A>C (p.His256Pro) c.1076A>C (p.His359Pro) c.1121A>C (p.His374Pro) | |
| 4 | g.101918149A>G | CA357956402 | BANK1 | c.1166A>G (p.His389Arg) c.767A>G (p.His256Arg) c.1076A>G (p.His359Arg) c.1121A>G (p.His374Arg) | |
| 4 | g.101918149A>T | CA357956403 | BANK1 | c.1166A>T (p.His389Leu) c.767A>T (p.His256Leu) c.1076A>T (p.His359Leu) c.1121A>T (p.His374Leu) | |
| 4 | g.101918150T>A | CA357956404 | BANK1 | c.1167T>A (p.His389Gln) c.768T>A (p.His256Gln) c.1077T>A (p.His359Gln) c.1122T>A (p.His374Gln) | |
| 4 | g.101918150T>C | CA103070480 | BANK1 | c.1167T>C (p.His389=) c.768T>C (p.His256=) c.1077T>C (p.His359=) c.1122T>C (p.His374=) | dbSNP gnomAD v4 |