Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.51137164T>A | CA395877668 | SALL1 | c.3923A>T (p.Asn1308Ile) c.3632A>T (p.Asn1211Ile) c.465A>T (n.465A>T) | |
16 | g.51137164T>C | CA395877666 | SALL1 | c.3923A>G (p.Asn1308Ser) c.3632A>G (p.Asn1211Ser) c.465A>G (n.465A>G) | |
16 | g.51137164T>G | CA395877667 | SALL1 | c.3923A>C (p.Asn1308Thr) c.3632A>C (p.Asn1211Thr) c.465A>C (n.465A>C) | |
16 | g.51137165T>A | CA395877669 | SALL1 | c.3922A>T (p.Asn1308Tyr) c.3631A>T (p.Asn1211Tyr) c.464A>T (n.464A>T) | |
16 | g.51137165T>C | CA395877670 | SALL1 | c.3922A>G (p.Asn1308Asp) c.3631A>G (p.Asn1211Asp) c.464A>G (n.464A>G) | |
16 | g.51137165T>G | CA395877671 | SALL1 | c.3922A>C (p.Asn1308His) c.3631A>C (p.Asn1211His) c.464A>C (n.464A>C) | |
16 | g.51137166G>A | CA495478364 | SALL1 | c.3921C>T (p.Thr1307=) c.3630C>T (p.Thr1210=) c.463C>T (n.463C>T) | |
16 | g.51137166G>C | CA495478366 | SALL1 | c.3921C>G (p.Thr1307=) c.3630C>G (p.Thr1210=) c.463C>G (n.463C>G) | |
16 | g.51137166G>T | CA495478365 | SALL1 | c.3921C>A (p.Thr1307=) c.3630C>A (p.Thr1210=) c.463C>A (n.463C>A) | |
16 | g.51137167G>A | CA395877672 | SALL1 | c.3920C>T (p.Thr1307Ile) c.3629C>T (p.Thr1210Ile) c.462C>T (n.462C>T) | |
16 | g.51137167G>C | CA395877673 | SALL1 | c.3920C>G (p.Thr1307Ser) c.3629C>G (p.Thr1210Ser) c.462C>G (n.462C>G) | |
16 | g.51137167G>T | CA395877674 | SALL1 | c.3920C>A (p.Thr1307Asn) c.3629C>A (p.Thr1210Asn) c.462C>A (n.462C>A) | gnomAD v4 |
16 | g.51137168T>A | CA395877676 | SALL1 | c.3919A>T (p.Thr1307Ser) c.3628A>T (p.Thr1210Ser) c.461A>T (n.461A>T) | |
16 | g.51137168T>C | CA395877677 | SALL1 | c.3919A>G (p.Thr1307Ala) c.3628A>G (p.Thr1210Ala) c.461A>G (n.461A>G) | |
16 | g.51137168T>G | CA395877675 | SALL1 | c.3919A>C (p.Thr1307Pro) c.3628A>C (p.Thr1210Pro) c.461A>C (n.461A>C) | |
16 | g.51137169T>A | CA495478370 | SALL1 | c.3918A>T (p.Gly1306=) c.3627A>T (p.Gly1209=) c.460A>T (n.460A>T) | |
16 | g.51137169T>C | CA495478372 | SALL1 | c.3918A>G (p.Gly1306=) c.3627A>G (p.Gly1209=) c.460A>G (n.460A>G) | |
16 | g.51137169T>G | CA495478373 | SALL1 | c.3918A>C (p.Gly1306=) c.3627A>C (p.Gly1209=) c.460A>C (n.460A>C) | |
16 | g.51137170C>A | CA395877680 | SALL1 | c.3917G>T (p.Gly1306Val) c.3626G>T (p.Gly1209Val) c.459G>T (n.459G>T) | |
16 | g.51137170C>G | CA395877678 | SALL1 | c.3917G>C (p.Gly1306Ala) c.3626G>C (p.Gly1209Ala) c.459G>C (n.459G>C) | gnomAD v4 |
16 | g.51137170C>T | CA395877679 | SALL1 | c.3917G>A (p.Gly1306Glu) c.3626G>A (p.Gly1209Glu) c.459G>A (n.459G>A) | gnomAD v4 |
16 | g.51137171C>A | CA395877681 | SALL1 | c.3916G>T (p.Gly1306Ter) c.3625G>T (p.Gly1209Ter) c.458G>T (n.458G>T) | |
16 | g.51137171C= | CA2222079555 | SALL1 | c.3916G= (p.Gly1306=) c.3625G= (p.Gly1209=) c.458G= (n.458G=) | |
16 | g.51137171C>G | CA8052808 | SALL1 | c.3916G>C (p.Gly1306Arg) c.3625G>C (p.Gly1209Arg) c.458G>C (n.458G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51137171C>T | CA395877682 | SALL1 | c.3916G>A (p.Gly1306Arg) c.3625G>A (p.Gly1209Arg) c.458G>A (n.458G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.51137172G>A | CA8052809 | SALL1 | c.3915C>T (p.Asn1305=) c.3624C>T (p.Asn1208=) c.457C>T (n.457C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.51137172G>C | CA395877684 | SALL1 | c.3915C>G (p.Asn1305Lys) c.3624C>G (p.Asn1208Lys) c.457C>G (n.457C>G) | |
16 | g.51137172G= | CA2222079564 | SALL1 | c.3915C= (p.Asn1305=) c.3624C= (p.Asn1208=) c.457C= (n.457C=) | |
16 | g.51137172G>T | CA395877683 | SALL1 | c.3915C>A (p.Asn1305Lys) c.3624C>A (p.Asn1208Lys) c.457C>A (n.457C>A) | COSMIC |
16 | g.51137173T>A | CA395877685 | SALL1 | c.3914A>T (p.Asn1305Ile) c.3623A>T (p.Asn1208Ile) c.456A>T (n.456A>T) | |
16 | g.51137173T>C | CA395877686 | SALL1 | c.3914A>G (p.Asn1305Ser) c.3623A>G (p.Asn1208Ser) c.456A>G (n.456A>G) | |
16 | g.51137173T>G | CA395877687 | SALL1 | c.3914A>C (p.Asn1305Thr) c.3623A>C (p.Asn1208Thr) c.456A>C (n.456A>C) | |
16 | g.51137174T>A | CA395877688 | SALL1 | c.3913A>T (p.Asn1305Tyr) c.3622A>T (p.Asn1208Tyr) c.455A>T (n.455A>T) | |
16 | g.51137174T>C | CA395877689 | SALL1 | c.3913A>G (p.Asn1305Asp) c.3622A>G (p.Asn1208Asp) c.455A>G (n.455A>G) | |
16 | g.51137174T>G | CA395877690 | SALL1 | c.3913A>C (p.Asn1305His) c.3622A>C (p.Asn1208His) c.455A>C (n.455A>C) | |
16 | g.51137175C>A | CA395877691 | SALL1 | c.3912G>T (p.Glu1304Asp) c.3621G>T (p.Glu1207Asp) c.454G>T (n.454G>T) | |
16 | g.51137175C= | CA2222079568 | SALL1 | c.3912G= (p.Glu1304=) c.3621G= (p.Glu1207=) c.454G= (n.454G=) | |
16 | g.51137175C>G | CA395877692 | SALL1 | c.3912G>C (p.Glu1304Asp) c.3621G>C (p.Glu1207Asp) c.454G>C (n.454G>C) | |
16 | g.51137175C>T | CA281297890 | SALL1 | c.3912G>A (p.Glu1304=) c.3621G>A (p.Glu1207=) c.454G>A (n.454G>A) | dbSNP |
16 | g.51137176T>A | CA395877693 | SALL1 | c.3911A>T (p.Glu1304Val) c.3620A>T (p.Glu1207Val) c.453A>T (n.453A>T) | |
16 | g.51137176T>C | CA395877694 | SALL1 | c.3911A>G (p.Glu1304Gly) c.3620A>G (p.Glu1207Gly) c.453A>G (n.453A>G) | |
16 | g.51137176T>G | CA395877695 | SALL1 | c.3911A>C (p.Glu1304Ala) c.3620A>C (p.Glu1207Ala) c.453A>C (n.453A>C) | |
16 | g.51137177C>A | CA395877696 | SALL1 | c.3910G>T (p.Glu1304Ter) c.3619G>T (p.Glu1207Ter) c.452G>T (n.452G>T) | |
16 | g.51137177C= | CA2222079570 | SALL1 | c.3910G= (p.Glu1304=) c.3619G= (p.Glu1207=) c.452G= (n.452G=) | |
16 | g.51137177C>G | CA395877697 | SALL1 | c.3910G>C (p.Glu1304Gln) c.3619G>C (p.Glu1207Gln) c.452G>C (n.452G>C) | |
16 | g.51137177C>T | CA395877698 | SALL1 | c.3910G>A (p.Glu1304Lys) c.3619G>A (p.Glu1207Lys) c.452G>A (n.452G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.51137178A= | CA2222079581 | SALL1 | c.3909T= (p.Ser1303=) c.3618T= (p.Ser1206=) c.451T= (n.451T=) | |
16 | g.51137178A>C | CA395877700 | SALL1 | c.3909T>G (p.Ser1303Arg) c.3618T>G (p.Ser1206Arg) c.451T>G (n.451T>G) | |
16 | g.51137178A>G | CA495478394 | SALL1 | c.3909T>C (p.Ser1303=) c.3618T>C (p.Ser1206=) c.451T>C (n.451T>C) | dbSNP |
16 | g.51137178A>T | CA395877701 | SALL1 | c.3909T>A (p.Ser1303Arg) c.3618T>A (p.Ser1206Arg) c.451T>A (n.451T>A) |