| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.78865602A>C | CA357378492 | BMP2K | c.1113A>C (p.Arg371Ser) c.*89A>C (n.*89A>C) c.190A>C n.395A>C c.873A>C (p.Arg291Ser) c.225A>C (p.Arg75Ser) | |
| 4 | g.78865602A>G | CA439976454 | BMP2K | c.1113A>G (p.Arg371=) c.*89A>G (n.*89A>G) c.190A>G n.395A>G c.873A>G (p.Arg291=) c.225A>G (p.Arg75=) | |
| 4 | g.78865602A>T | CA357378493 | BMP2K | c.1113A>T (p.Arg371Ser) c.*89A>T (n.*89A>T) c.190A>T n.395A>T c.873A>T (p.Arg291Ser) c.225A>T (p.Arg75Ser) | |
| 4 | g.78865603C>A | CA357378494 | BMP2K | c.1114C>A (p.Gln372Lys) c.*90C>A (n.*90C>A) c.191C>A n.396C>A c.874C>A (p.Gln292Lys) c.226C>A (p.Gln76Lys) | |
| 4 | g.78865603C>G | CA357378495 | BMP2K | c.1114C>G (p.Gln372Glu) c.*90C>G (n.*90C>G) c.191C>G n.396C>G c.874C>G (p.Gln292Glu) c.226C>G (p.Gln76Glu) | |
| 4 | g.78865603C>T | CA357378496 | BMP2K | c.1114C>T (p.Gln372Ter) c.*90C>T (n.*90C>T) c.191C>T n.396C>T c.874C>T (p.Gln292Ter) c.226C>T (p.Gln76Ter) | |
| 4 | g.78865604A>C | CA357378497 | BMP2K | c.1115A>C (p.Gln372Pro) c.*91A>C (n.*91A>C) c.192A>C n.397A>C c.875A>C (p.Gln292Pro) c.227A>C (p.Gln76Pro) | |
| 4 | g.78865604A>G | CA357378498 | BMP2K | c.1115A>G (p.Gln372Arg) c.*91A>G (n.*91A>G) c.192A>G n.397A>G c.875A>G (p.Gln292Arg) c.227A>G (p.Gln76Arg) | |
| 4 | g.78865604A>T | CA357378499 | BMP2K | c.1115A>T (p.Gln372Leu) c.*91A>T (n.*91A>T) c.192A>T n.397A>T c.875A>T (p.Gln292Leu) c.227A>T (p.Gln76Leu) | |
| 4 | g.78865605A= | CA1470731201 | BMP2K | c.1116A= (p.Gln372=) c.*92A= (n.*92A=) c.193A= n.398A= c.876A= (p.Gln292=) c.228A= (p.Gln76=) | |
| 4 | g.78865605A>C | CA357378500 | BMP2K | c.1116A>C (p.Gln372His) c.*92A>C (n.*92A>C) c.193A>C n.398A>C c.876A>C (p.Gln292His) c.228A>C (p.Gln76His) | |
| 4 | g.78865605A>G | CA439976459 | BMP2K | c.1116A>G (p.Gln372=) c.*92A>G (n.*92A>G) c.193A>G n.398A>G c.876A>G (p.Gln292=) c.228A>G (p.Gln76=) | dbSNP gnomAD v4 |
| 4 | g.78865605A>T | CA357378501 | BMP2K | c.1116A>T (p.Gln372His) c.*92A>T (n.*92A>T) c.193A>T n.398A>T c.876A>T (p.Gln292His) c.228A>T (p.Gln76His) | |
| 4 | g.78865606A>C | CA439976460 | BMP2K | c.1117A>C (p.Arg373=) c.*93A>C (n.*93A>C) c.194A>C n.399A>C c.877A>C (p.Arg293=) c.229A>C (p.Arg77=) | |
| 4 | g.78865606A>G | CA357378502 | BMP2K | c.1117A>G (p.Arg373Gly) c.*93A>G (n.*93A>G) c.194A>G n.399A>G c.877A>G (p.Arg293Gly) c.229A>G (p.Arg77Gly) | |
| 4 | g.78865606A>T | CA357378503 | BMP2K | c.1117A>T (p.Arg373Ter) c.*93A>T (n.*93A>T) c.194A>T n.399A>T c.877A>T (p.Arg293Ter) c.229A>T (p.Arg77Ter) | |
| 4 | g.78865607G>A | CA357378506 | BMP2K | c.1118G>A (p.Arg373Lys) c.*94G>A (n.*94G>A) c.195G>A n.400G>A c.878G>A (p.Arg293Lys) c.230G>A (p.Arg77Lys) | |
| 4 | g.78865607G>C | CA357378505 | BMP2K | c.1118G>C (p.Arg373Thr) c.*94G>C (n.*94G>C) c.195G>C n.400G>C c.878G>C (p.Arg293Thr) c.230G>C (p.Arg77Thr) | gnomAD v4 |
| 4 | g.78865607G>T | CA357378504 | BMP2K | c.1118G>T (p.Arg373Ile) c.*94G>T (n.*94G>T) c.195G>T n.400G>T c.878G>T (p.Arg293Ile) c.230G>T (p.Arg77Ile) | |
| 4 | g.78865608A= | CA1470731205 | BMP2K | c.1119A= (p.Arg373=) c.*95A= (n.*95A=) c.196A= n.401A= c.879A= (p.Arg293=) c.231A= (p.Arg77=) | |
| 4 | g.78865608A>C | CA357378508 | BMP2K | c.1119A>C (p.Arg373Ser) c.*95A>C (n.*95A>C) c.196A>C n.401A>C c.879A>C (p.Arg293Ser) c.231A>C (p.Arg77Ser) | |
| 4 | g.78865608A>G | CA439976463 | BMP2K | c.1119A>G (p.Arg373=) c.*95A>G (n.*95A>G) c.196A>G n.401A>G c.879A>G (p.Arg293=) c.231A>G (p.Arg77=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.78865608A>T | CA357378507 | BMP2K | c.1119A>T (p.Arg373Ser) c.*95A>T (n.*95A>T) c.196A>T n.401A>T c.879A>T (p.Arg293Ser) c.231A>T (p.Arg77Ser) | gnomAD v4 |
| 4 | g.78865609C>A | CA357378509 | BMP2K | c.1120C>A (p.Pro374Thr) c.*96C>A (n.*96C>A) c.197C>A n.402C>A c.880C>A (p.Pro294Thr) c.232C>A (p.Pro78Thr) | |
| 4 | g.78865609C>G | CA357378510 | BMP2K | c.1120C>G (p.Pro374Ala) c.*96C>G (n.*96C>G) c.197C>G n.402C>G c.880C>G (p.Pro294Ala) c.232C>G (p.Pro78Ala) | |
| 4 | g.78865609C>T | CA357378511 | BMP2K | c.1120C>T (p.Pro374Ser) c.*96C>T (n.*96C>T) c.197C>T n.402C>T c.880C>T (p.Pro294Ser) c.232C>T (p.Pro78Ser) | gnomAD v4 |
| 4 | g.78865610C>A | CA357378512 | BMP2K | c.1121C>A (p.Pro374Gln) c.*97C>A (n.*97C>A) c.198C>A n.403C>A c.881C>A (p.Pro294Gln) c.233C>A (p.Pro78Gln) | |
| 4 | g.78865610C>G | CA357378513 | BMP2K | c.1121C>G (p.Pro374Arg) c.*97C>G (n.*97C>G) c.198C>G n.403C>G c.881C>G (p.Pro294Arg) c.233C>G (p.Pro78Arg) | |
| 4 | g.78865610C>T | CA357378514 | BMP2K | c.1121C>T (p.Pro374Leu) c.*97C>T (n.*97C>T) c.198C>T n.403C>T c.881C>T (p.Pro294Leu) c.233C>T (p.Pro78Leu) | |
| 4 | g.78865611A= | CA1470731207 | BMP2K | c.1122A= (p.Pro374=) c.*98A= (n.*98A=) c.199A= n.404A= c.882A= (p.Pro294=) c.234A= (p.Pro78=) | |
| 4 | g.78865611A>C | CA439976468 | BMP2K | c.1122A>C (p.Pro374=) c.*98A>C (n.*98A>C) c.199A>C n.404A>C c.882A>C (p.Pro294=) c.234A>C (p.Pro78=) | |
| 4 | g.78865611A>G | CA2980198 | BMP2K | c.1122A>G (p.Pro374=) c.*98A>G (n.*98A>G) c.199A>G n.404A>G c.882A>G (p.Pro294=) c.234A>G (p.Pro78=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.78865611A>T | CA439976469 | BMP2K | c.1122A>T (p.Pro374=) c.*98A>T (n.*98A>T) c.199A>T n.404A>T c.882A>T (p.Pro294=) c.234A>T (p.Pro78=) | |
| 4 | g.78865612A>C | CA357378515 | BMP2K | c.1123A>C (p.Lys375Gln) c.*99A>C (n.*99A>C) c.200A>C n.405A>C c.883A>C (p.Lys295Gln) c.235A>C (p.Lys79Gln) | |
| 4 | g.78865612A>G | CA357378517 | BMP2K | c.1123A>G (p.Lys375Glu) c.*99A>G (n.*99A>G) c.200A>G n.405A>G c.883A>G (p.Lys295Glu) c.235A>G (p.Lys79Glu) | gnomAD v4 |
| 4 | g.78865612A>T | CA357378516 | BMP2K | c.1123A>T (p.Lys375Ter) c.*99A>T (n.*99A>T) c.200A>T n.405A>T c.883A>T (p.Lys295Ter) c.235A>T (p.Lys79Ter) | |
| 4 | g.78865613A= | CA1470731210 | BMP2K | c.1124A= (p.Lys375=) c.*100A= (n.*100A=) c.201A= n.406A= c.884A= (p.Lys295=) c.236A= (p.Lys79=) | |
| 4 | g.78865613A>C | CA357378518 | BMP2K | c.1124A>C (p.Lys375Thr) c.*100A>C (n.*100A>C) c.201A>C n.406A>C c.884A>C (p.Lys295Thr) c.236A>C (p.Lys79Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.78865613A>G | CA357378519 | BMP2K | c.1124A>G (p.Lys375Arg) c.*100A>G (n.*100A>G) c.201A>G n.406A>G c.884A>G (p.Lys295Arg) c.236A>G (p.Lys79Arg) | |
| 4 | g.78865613A>T | CA357378520 | BMP2K | c.1124A>T (p.Lys375Met) c.*100A>T (n.*100A>T) c.201A>T n.406A>T c.884A>T (p.Lys295Met) c.236A>T (p.Lys79Met) | |
| 4 | g.78865614G>A | CA439976471 | BMP2K | c.1125G>A (p.Lys375=) c.*101G>A (n.*101G>A) c.202G>A n.407G>A c.885G>A (p.Lys295=) c.237G>A (p.Lys79=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.78865614G>C | CA357378521 | BMP2K | c.1125G>C (p.Lys375Asn) c.*101G>C (n.*101G>C) c.202G>C n.407G>C c.885G>C (p.Lys295Asn) c.237G>C (p.Lys79Asn) | |
| 4 | g.78865614G= | CA1470731216 | BMP2K | c.1125G= (p.Lys375=) c.*101G= (n.*101G=) c.202G= n.407G= c.885G= (p.Lys295=) c.237G= (p.Lys79=) | |
| 4 | g.78865614G>T | CA357378522 | BMP2K | c.1125G>T (p.Lys375Asn) c.*101G>T (n.*101G>T) c.202G>T n.407G>T c.885G>T (p.Lys295Asn) c.237G>T (p.Lys79Asn) | |
| 4 | g.78865615G>A | CA357378523 | BMP2K | c.1126G>A (p.Ala376Thr) c.*102G>A (n.*102G>A) c.203G>A n.408G>A c.886G>A (p.Ala296Thr) c.238G>A (p.Ala80Thr) | |
| 4 | g.78865615G>C | CA357378525 | BMP2K | c.1126G>C (p.Ala376Pro) c.*102G>C (n.*102G>C) c.203G>C n.408G>C c.886G>C (p.Ala296Pro) c.238G>C (p.Ala80Pro) | |
| 4 | g.78865615G>T | CA357378524 | BMP2K | c.1126G>T (p.Ala376Ser) c.*102G>T (n.*102G>T) c.203G>T n.408G>T c.886G>T (p.Ala296Ser) c.238G>T (p.Ala80Ser) | |
| 4 | g.78865616C>A | CA2980199 | BMP2K | c.1127C>A (p.Ala376Asp) c.*103C>A (n.*103C>A) c.204C>A n.409C>A c.887C>A (p.Ala296Asp) c.239C>A (p.Ala80Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.78865616C= | CA1470731222 | BMP2K | c.1127C= (p.Ala376=) c.*103C= (n.*103C=) c.204C= n.409C= c.887C= (p.Ala296=) c.239C= (p.Ala80=) | |
| 4 | g.78865616C>G | CA99975151 | BMP2K | c.1127C>G (p.Ala376Gly) c.*103C>G (n.*103C>G) c.204C>G n.409C>G c.887C>G (p.Ala296Gly) c.239C>G (p.Ala80Gly) | dbSNP gnomAD v4 |