Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.102501225_102501250delinsCCCCACCCCCGGCAGCGACCCTACCT | CA1481407375 | c.642_643+24delinsAGGTAGGGTCGCTGCCGGGGGTGGGG n.48+1189_48+1214delinsAGGTAGGGTCGCTGCCGGGGGTGGGG | ||
4 | g.102501229_102501253del | CA1481407380 | c.642_643+23del n.48+1189_48+1213del | dbSNP | |
4 | g.102501247A>C | CA440620436 | c.643+2T>G (n.643+2T>G) n.48+1192T>G | gnomAD v3 gnomAD v4 | |
4 | g.102501247A>G | CA440620437 | c.643+2T>C (n.643+2T>C) n.48+1192T>C | gnomAD v4 | |
4 | g.102501247A>T | CA440620438 | c.643+2T>A (n.643+2T>A) n.48+1192T>A | ||
4 | g.102501248C>A | CA440620439 | c.643+1G>T (n.643+1G>T) n.48+1191G>T | gnomAD v4 | |
4 | g.102501248C>G | CA440620441 | c.643+1G>C (n.643+1G>C) n.48+1191G>C | ||
4 | g.102501248C>T | CA440620440 | c.643+1G>A (n.643+1G>A) n.48+1191G>A | ||
4 | g.102501249C>A | CA440620442 | c.643G>T (p.Asp215Tyr) n.48+1190G>T | gnomAD v4 | |
4 | g.102501249C= | CA1481407417 | c.643G= (p.Asp215=) n.48+1190G= | ||
4 | g.102501249C>G | CA440620443 | c.643G>C (p.Asp215His) n.48+1190G>C | ||
4 | g.102501249C>T | CA440620444 | c.643G>A (p.Asp215Asn) n.48+1190G>A | dbSNP gnomAD v3 gnomAD v4 | |
4 | g.102501250T>A | CA440620445 | c.642A>T (p.Gly214=) n.48+1189A>T | gnomAD v4 | |
4 | g.102501250T>C | CA440620446 | c.642A>G (p.Gly214=) n.48+1189A>G | gnomAD v4 | |
4 | g.102501250T>G | CA440620447 | c.642A>C (p.Gly214=) n.48+1189A>C | ||
4 | g.102501251C>A | CA440620448 | c.641G>T (p.Gly214Val) n.48+1188G>T | gnomAD v4 | |
4 | g.102501251C>G | CA440620449 | c.641G>C (p.Gly214Ala) n.48+1188G>C | ||
4 | g.102501251C>T | CA440620450 | c.641G>A (p.Gly214Glu) n.48+1188G>A | ||
4 | g.102501253del | CA2762880487 | c.641del (p.Gly214GlufsTer17) n.48+1188del | ||
4 | g.102501252C>A | CA440620451 | c.640G>T (p.Gly214Ter) n.48+1187G>T | gnomAD v4 | |
4 | g.102501252C= | CA1481407419 | c.640G= (p.Gly214=) n.48+1187G= | ||
4 | g.102501252C>G | CA440620452 | c.640G>C (p.Gly214Arg) n.48+1187G>C | dbSNP | |
4 | g.102501252C>T | CA440620453 | c.640G>A (p.Gly214Arg) n.48+1187G>A | gnomAD v4 | |
4 | g.102501253C>A | CA440620455 | c.639G>T (p.Ala213=) n.48+1186G>T | gnomAD v4 | |
4 | g.102501253C= | CA1481407422 | c.639G= (p.Ala213=) n.48+1186G= | ||
4 | g.102501253C>G | CA440620454 | c.639G>C (p.Ala213=) n.48+1186G>C | ||
4 | g.102501253C>T | CA103120470 | c.639G>A (p.Ala213=) n.48+1186G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | |
4 | g.102501254G>A | CA103120471 | c.638C>T (p.Ala213Val) n.48+1185C>T | dbSNP gnomAD v3 gnomAD v4 | |
4 | g.102501254G>C | CA440620456 | c.638C>G (p.Ala213Gly) n.48+1185C>G | ||
4 | g.102501254G= | CA1481407425 | c.638C= (p.Ala213=) n.48+1185C= | ||
4 | g.102501254G>T | CA440620457 | c.638C>A (p.Ala213Glu) n.48+1185C>A | gnomAD v4 | |
4 | g.102501255C>A | CA440620458 | c.637G>T (p.Ala213Ser) n.48+1184G>T | gnomAD v4 | |
4 | g.102501255C>G | CA440620459 | c.637G>C (p.Ala213Pro) n.48+1184G>C | ||
4 | g.102501255C>T | CA440620460 | c.637G>A (p.Ala213Thr) n.48+1184G>A | gnomAD v4 | |
4 | g.102501259dup | CA2671575175 | c.637dup (p.Ala213GlyfsTer?) n.48+1184dup | gnomAD v4 | |
4 | g.102501259del | CA2671575176 | c.637del (p.Ala213ArgfsTer18) n.48+1184del | gnomAD v4 | |
4 | g.102501256C>A | CA440620461 | c.636G>T (p.Gly212=) n.48+1183G>T | dbSNP gnomAD v4 | |
4 | g.102501256C= | CA1481407430 | c.636G= (p.Gly212=) n.48+1183G= | ||
4 | g.102501256C>G | CA440620462 | c.636G>C (p.Gly212=) n.48+1183G>C | ||
4 | g.102501256C>T | CA440620463 | c.636G>A (p.Gly212=) n.48+1183G>A | gnomAD v4 | |
4 | g.102501257C>A | CA440620464 | c.635G>T (p.Gly212Val) n.48+1182G>T | ||
4 | g.102501257C>G | CA440620465 | c.635G>C (p.Gly212Ala) n.48+1182G>C | ||
4 | g.102501257C>T | CA440620466 | c.635G>A (p.Gly212Glu) n.48+1182G>A | gnomAD v4 | |
4 | g.102501258C>A | CA440620467 | c.634G>T (p.Gly212Trp) n.48+1181G>T | dbSNP gnomAD v4 | |
4 | g.102501258C= | CA1481407435 | c.634G= (p.Gly212=) n.48+1181G= | ||
4 | g.102501258C>G | CA440620468 | c.634G>C (p.Gly212Arg) n.48+1181G>C | ||
4 | g.102501258C>T | CA103120472 | c.634G>A (p.Gly212Arg) n.48+1181G>A | dbSNP gnomAD v3 gnomAD v4 | |
4 | g.102501259C>A | CA440620469 | c.633G>T (p.Ala211=) n.48+1180G>T | ||
4 | g.102501259C= | CA1481407440 | c.633G= (p.Ala211=) n.48+1180G= | ||
4 | g.102501259C>G | CA440620470 | c.633G>C (p.Ala211=) n.48+1180G>C | dbSNP |