| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.101918130G>A | CA3025027 | BANK1 | c.1147G>A (p.Ala383Thr) c.748G>A (p.Ala250Thr) c.1057G>A (p.Ala353Thr) c.1102G>A (p.Ala368Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.101918130G>C | CA357956364 | BANK1 | c.1147G>C (p.Ala383Pro) c.748G>C (p.Ala250Pro) c.1057G>C (p.Ala353Pro) c.1102G>C (p.Ala368Pro) | |
| 4 | g.101918130G= | CA1481138704 | BANK1 | c.1147G= (p.Ala383=) c.748G= (p.Ala250=) c.1057G= (p.Ala353=) c.1102G= (p.Ala368=) | |
| 4 | g.101918130G>T | CA357956363 | BANK1 | c.1147G>T (p.Ala383Ser) c.748G>T (p.Ala250Ser) c.1057G>T (p.Ala353Ser) c.1102G>T (p.Ala368Ser) | gnomAD v4 |
| 4 | g.101918131C>A | CA357956365 | BANK1 | c.1148C>A (p.Ala383Glu) c.749C>A (p.Ala250Glu) c.1058C>A (p.Ala353Glu) c.1103C>A (p.Ala368Glu) | |
| 4 | g.101918131C= | CA1481138705 | BANK1 | c.1148C= (p.Ala383=) c.749C= (p.Ala250=) c.1058C= (p.Ala353=) c.1103C= (p.Ala368=) | |
| 4 | g.101918131C>G | CA357956366 | BANK1 | c.1148C>G (p.Ala383Gly) c.749C>G (p.Ala250Gly) c.1058C>G (p.Ala353Gly) c.1103C>G (p.Ala368Gly) | |
| 4 | g.101918131C>T | CA3025028 | BANK1 | c.1148C>T (p.Ala383Val) c.749C>T (p.Ala250Val) c.1058C>T (p.Ala353Val) c.1103C>T (p.Ala368Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.101918132A= | CA1481138706 | BANK1 | c.1149A= (p.Ala383=) c.750A= (p.Ala250=) c.1059A= (p.Ala353=) c.1104A= (p.Ala368=) | |
| 4 | g.101918132A>C | CA103070477 | BANK1 | c.1149A>C (p.Ala383=) c.750A>C (p.Ala250=) c.1059A>C (p.Ala353=) c.1104A>C (p.Ala368=) | dbSNP |
| 4 | g.101918132A>G | CA440606635 | BANK1 | c.1149A>G (p.Ala383=) c.750A>G (p.Ala250=) c.1059A>G (p.Ala353=) c.1104A>G (p.Ala368=) | |
| 4 | g.101918132A>T | CA103070478 | BANK1 | c.1149A>T (p.Ala383=) c.750A>T (p.Ala250=) c.1059A>T (p.Ala353=) c.1104A>T (p.Ala368=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.101918133C>A | CA357956367 | BANK1 | c.1150C>A (p.His384Asn) c.751C>A (p.His251Asn) c.1060C>A (p.His354Asn) c.1105C>A (p.His369Asn) | gnomAD v4 |
| 4 | g.101918133C= | CA1481138707 | BANK1 | c.1150C= (p.His384=) c.751C= (p.His251=) c.1060C= (p.His354=) c.1105C= (p.His369=) | |
| 4 | g.101918133C>G | CA357956368 | BANK1 | c.1150C>G (p.His384Asp) c.751C>G (p.His251Asp) c.1060C>G (p.His354Asp) c.1105C>G (p.His369Asp) | |
| 4 | g.101918133C>T | CA357956369 | BANK1 | c.1150C>T (p.His384Tyr) c.751C>T (p.His251Tyr) c.1060C>T (p.His354Tyr) c.1105C>T (p.His369Tyr) | dbSNP gnomAD v4 |
| 4 | g.101918134A= | CA1481138708 | BANK1 | c.1151A= (p.His384=) c.752A= (p.His251=) c.1061A= (p.His354=) c.1106A= (p.His369=) | |
| 4 | g.101918134A>C | CA357956370 | BANK1 | c.1151A>C (p.His384Pro) c.752A>C (p.His251Pro) c.1061A>C (p.His354Pro) c.1106A>C (p.His369Pro) | |
| 4 | g.101918134A>G | CA3025029 | BANK1 | c.1151A>G (p.His384Arg) c.752A>G (p.His251Arg) c.1061A>G (p.His354Arg) c.1106A>G (p.His369Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.101918134A>T | CA357956371 | BANK1 | c.1151A>T (p.His384Leu) c.752A>T (p.His251Leu) c.1061A>T (p.His354Leu) c.1106A>T (p.His369Leu) | |
| 4 | g.101918135T>A | CA357956372 | BANK1 | c.1152T>A (p.His384Gln) c.753T>A (p.His251Gln) c.1062T>A (p.His354Gln) c.1107T>A (p.His369Gln) | |
| 4 | g.101918135T>C | CA440606636 | BANK1 | c.1152T>C (p.His384=) c.753T>C (p.His251=) c.1062T>C (p.His354=) c.1107T>C (p.His369=) | gnomAD v4 |
| 4 | g.101918135T>G | CA357956373 | BANK1 | c.1152T>G (p.His384Gln) c.753T>G (p.His251Gln) c.1062T>G (p.His354Gln) c.1107T>G (p.His369Gln) | |
| 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 |