Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.51141714_51141757dup | CA2580091583 | SALL1 | c.469_512dup (p.Ile172AlafsTer26) c.178_221dup (p.Ile75AlafsTer26) c.77-4201_77-4158dup (n.77-4201_77-4158dup) | ClinVar |
16 | g.51141729A= | CA2222022768 | SALL1 | c.493T= (p.Ser165=) c.202T= (p.Ser68=) c.77-4177T= (n.77-4177T=) | |
16 | g.51141729A>C | CA395891744 | SALL1 | c.493T>G (p.Ser165Ala) c.202T>G (p.Ser68Ala) c.77-4177T>G (n.77-4177T>G) | |
16 | g.51141729A>G | CA395891748 | SALL1 | c.493T>C (p.Ser165Pro) c.202T>C (p.Ser68Pro) c.77-4177T>C (n.77-4177T>C) | |
16 | g.51141729A>T | CA395891754 | SALL1 | c.493T>A (p.Ser165Thr) c.202T>A (p.Ser68Thr) c.77-4177T>A (n.77-4177T>A) | |
16 | g.51141729_51141750delinsAGCTGCCGCCGCCGCCGCTGCT | CA2222022772 | SALL1 | c.472_493delinsAGCAGCGGCGGCGGCGGCAGCT (p.Ser158=) c.181_202delinsAGCAGCGGCGGCGGCGGCAGCT (p.Ser61=) c.77-4198_77-4177delinsAGCAGCGGCGGCGGCGGCAGCT (n.77-4198_77-4177delinsAGCAGCGGCGGCGGCGGCAGCT) | |
16 | g.51141730G>A | CA495781486 | SALL1 | c.492C>T (p.Ser164=) c.201C>T (p.Ser67=) c.77-4178C>T (n.77-4178C>T) | gnomAD v4 |
16 | g.51141730G>C | CA395891756 | SALL1 | c.492C>G (p.Ser164Arg) c.201C>G (p.Ser67Arg) c.77-4178C>G (n.77-4178C>G) | gnomAD v4 |
16 | g.51141730G>T | CA395891757 | SALL1 | c.492C>A (p.Ser164Arg) c.201C>A (p.Ser67Arg) c.77-4178C>A (n.77-4178C>A) | |
16 | g.51141732_51141734dup | CA2575992067 | SALL1 | c.490_492dup (p.Ser164_Ser165insSer) c.199_201dup (p.Ser67_Ser68insSer) c.77-4180_77-4178dup (n.77-4180_77-4178dup) | gnomAD v4 |
16 | g.51141732_51141737dup | CA622654498 | SALL1 | c.487_492dup (p.Ser164_Ser165insGlySer) c.196_201dup (p.Ser67_Ser68insGlySer) c.77-4183_77-4178dup (n.77-4183_77-4178dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141735_51141749dup | CA2633181096 | SALL1 | c.478_492dup (p.Ser164_Ser165insGlyGlyGlyGlySer) c.187_201dup (p.Ser67_Ser68insGlyGlyGlyGlySer) c.77-4192_77-4178dup (n.77-4192_77-4178dup) | gnomAD v4 |
16 | g.51141735_51141755del | CA622654497 | SALL1 | c.472_492del (p.Ser158_Ser164del) c.181_201del (p.Ser61_Ser67del) c.77-4198_77-4178del (n.77-4198_77-4178del) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51141731C>A | CA395891759 | SALL1 | c.491G>T (p.Ser164Ile) c.200G>T (p.Ser67Ile) c.77-4179G>T (n.77-4179G>T) | |
16 | g.51141731C= | CA2222022784 | SALL1 | c.491G= (p.Ser164=) c.200G= (p.Ser67=) c.77-4179G= (n.77-4179G=) | |
16 | g.51141731C>G | CA395891760 | SALL1 | c.491G>C (p.Ser164Thr) c.200G>C (p.Ser67Thr) c.77-4179G>C (n.77-4179G>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51141731C>T | CA395891762 | SALL1 | c.491G>A (p.Ser164Asn) c.200G>A (p.Ser67Asn) c.77-4179G>A (n.77-4179G>A) | dbSNP gnomAD v4 |
16 | g.51141732T>A | CA395891764 | SALL1 | c.490A>T (p.Ser164Cys) c.199A>T (p.Ser67Cys) c.77-4180A>T (n.77-4180A>T) | |
16 | g.51141732T>C | CA395891765 | SALL1 | c.490A>G (p.Ser164Gly) c.199A>G (p.Ser67Gly) c.77-4180A>G (n.77-4180A>G) | gnomAD v4 COSMIC |
16 | g.51141732T>G | CA395891763 | SALL1 | c.490A>C (p.Ser164Arg) c.199A>C (p.Ser67Arg) c.77-4180A>C (n.77-4180A>C) | |
16 | g.51141732T= | CA2222022786 | SALL1 | c.490A= (p.Ser164=) c.199A= (p.Ser67=) c.77-4180A= (n.77-4180A=) | |
16 | g.51141732_51141738delinsTGCCGCC | CA2222022788 | SALL1 | c.484_490delinsGGCGGCA (p.Gly162=) c.193_199delinsGGCGGCA (p.Gly65=) c.77-4186_77-4180delinsGGCGGCA (n.77-4186_77-4180delinsGGCGGCA) | |
16 | g.51141733G>A | CA495781487 | SALL1 | c.489C>T (p.Gly163=) c.198C>T (p.Gly66=) c.77-4181C>T (n.77-4181C>T) | |
16 | g.51141733G>C | CA495781488 | SALL1 | c.489C>G (p.Gly163=) c.198C>G (p.Gly66=) c.77-4181C>G (n.77-4181C>G) | dbSNP |
16 | g.51141733G>T | CA495781489 | SALL1 | c.489C>A (p.Gly163=) c.198C>A (p.Gly66=) c.77-4181C>A (n.77-4181C>A) | |
16 | g.51141734_51141735insTGCCGC | CA2575992068 | SALL1 | c.489_490insGGCAGC (p.Gly163_Ser164insGlySer) c.198_199insGGCAGC (p.Gly66_Ser67insGlySer) c.77-4181_77-4180insGGCAGC (n.77-4181_77-4180insGGCAGC) | |
16 | g.51141734_51141735insTGCCGCCGC | CA721394776 | SALL1 | c.489_490insGGCGGCAGC (p.Gly163_Ser164insGlyGlySer) c.198_199insGGCGGCAGC (p.Gly66_Ser67insGlyGlySer) c.77-4181_77-4180insGGCGGCAGC (n.77-4181_77-4180insGGCGGCAGC) | dbSNP |
16 | g.51141744_51141746dup | CA8053448 | SALL1 | c.487_489dup (p.Gly163_Ser164insGly) c.196_198dup (p.Gly66_Ser67insGly) c.77-4183_77-4181dup (n.77-4183_77-4181dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141741_51141746dup | CA8053449 | SALL1 | c.484_489dup (p.Gly163_Ser164insGlyGly) c.193_198dup (p.Gly66_Ser67insGlyGly) c.77-4186_77-4181dup (n.77-4186_77-4181dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141744_51141746del | CA8053450 | SALL1 | c.487_489del (p.Gly163del) c.196_198del (p.Gly66del) c.77-4183_77-4181del (n.77-4183_77-4181del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141741_51141746del | CA622654499 | SALL1 | c.484_489del (p.Gly162_Gly163del) c.193_198del (p.Gly65_Gly66del) c.77-4186_77-4181del (n.77-4186_77-4181del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141733_51141734insGCC | CA645580661 | SALL1 | c.488_489insGGC (p.Gly163_Ser164insAla) c.197_198insGGC (p.Gly66_Ser67insAla) c.77-4182_77-4181insGGC (n.77-4182_77-4181insGGC) | COSMIC |
16 | g.51141734C>A | CA395891770 | SALL1 | c.488G>T (p.Gly163Val) c.197G>T (p.Gly66Val) c.77-4182G>T (n.77-4182G>T) | gnomAD v4 |
16 | g.51141734C>G | CA395891771 | SALL1 | c.488G>C (p.Gly163Ala) c.197G>C (p.Gly66Ala) c.77-4182G>C (n.77-4182G>C) | |
16 | g.51141734C>T | CA395891773 | SALL1 | c.488G>A (p.Gly163Asp) c.197G>A (p.Gly66Asp) c.77-4182G>A (n.77-4182G>A) | gnomAD v4 |
16 | g.51141735C>A | CA8053452 | SALL1 | c.487G>T (p.Gly163Cys) c.196G>T (p.Gly66Cys) c.77-4183G>T (n.77-4183G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51141735C= | CA2222022813 | SALL1 | c.487G= (p.Gly163=) c.196G= (p.Gly66=) c.77-4183G= (n.77-4183G=) | |
16 | g.51141735C>G | CA395891777 | SALL1 | c.487G>C (p.Gly163Arg) c.196G>C (p.Gly66Arg) c.77-4183G>C (n.77-4183G>C) | |
16 | g.51141735C>T | CA8053451 | SALL1 | c.487G>A (p.Gly163Ser) c.196G>A (p.Gly66Ser) c.77-4183G>A (n.77-4183G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.51141736G>A | CA8053453 | SALL1 | c.486C>T (p.Gly162=) c.195C>T (p.Gly65=) c.77-4184C>T (n.77-4184C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.51141736G>C | CA495781490 | SALL1 | c.486C>G (p.Gly162=) c.195C>G (p.Gly65=) c.77-4184C>G (n.77-4184C>G) | |
16 | g.51141736G= | CA2222022817 | SALL1 | c.486C= (p.Gly162=) c.195C= (p.Gly65=) c.77-4184C= (n.77-4184C=) | |
16 | g.51141736G>T | CA495781491 | SALL1 | c.486C>A (p.Gly162=) c.195C>A (p.Gly65=) c.77-4184C>A (n.77-4184C>A) | |
16 | g.51141737_51141738insTGC | CA2633181097 | SALL1 | c.486_487insAGC (p.Gly162_Gly163insSer) c.195_196insAGC (p.Gly65_Gly66insSer) c.77-4184_77-4183insAGC (n.77-4184_77-4183insAGC) | gnomAD v4 |
16 | g.51141737C>A | CA395891779 | SALL1 | c.485G>T (p.Gly162Val) c.194G>T (p.Gly65Val) c.77-4185G>T (n.77-4185G>T) | gnomAD v4 |
16 | g.51141737C>G | CA395891783 | SALL1 | c.485G>C (p.Gly162Ala) c.194G>C (p.Gly65Ala) c.77-4185G>C (n.77-4185G>C) | |
16 | g.51141737C>T | CA395891785 | SALL1 | c.485G>A (p.Gly162Asp) c.194G>A (p.Gly65Asp) c.77-4185G>A (n.77-4185G>A) | COSMIC |
16 | g.51141738C>A | CA281303085 | SALL1 | c.484G>T (p.Gly162Cys) c.193G>T (p.Gly65Cys) c.77-4186G>T (n.77-4186G>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51141738C= | CA2222022824 | SALL1 | c.484G= (p.Gly162=) c.193G= (p.Gly65=) c.77-4186G= (n.77-4186G=) | |
16 | g.51141738C>G | CA395891787 | SALL1 | c.484G>C (p.Gly162Arg) c.193G>C (p.Gly65Arg) c.77-4186G>C (n.77-4186G>C) | dbSNP gnomAD v4 |