| 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.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.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.51141741_51141749dup | CA8053454 | SALL1 | c.475_483dup (p.Gly161_Gly162insSerGlyGly) c.184_192dup (p.Gly64_Gly65insSerGlyGly) c.77-4195_77-4187dup (n.77-4195_77-4187dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51141741_51141752del | CA2633181098 | SALL1 | c.472_483del (p.Ser158_Gly161del) c.181_192del (p.Ser61_Gly64del) c.77-4198_77-4187del (n.77-4198_77-4187del) | gnomAD v4 |
| 16 | g.51141741_51141762delinsCGCCGCTGCTGCTGCTGCTGCT | CA2222022837 | SALL1 | c.460_481delinsAGCAGCAGCAGCAGCAGCGGCG (p.Ser154=) c.169_190delinsAGCAGCAGCAGCAGCAGCGGCG (p.Ser57=) c.77-4210_77-4189delinsAGCAGCAGCAGCAGCAGCGGCG (n.77-4210_77-4189delinsAGCAGCAGCAGCAGCAGCGGCG) | |
| 16 | g.51141744_51141749dup | CA977259160 | SALL1 | c.475_480dup (p.Gly160_Gly161insSerGly) c.184_189dup (p.Gly63_Gly64insSerGly) c.77-4195_77-4190dup (n.77-4195_77-4190dup) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51141744_51141749del | CA2633181100 | SALL1 | c.475_480del (p.Ser159_Gly160del) c.184_189del (p.Ser62_Gly63del) c.77-4195_77-4190del (n.77-4195_77-4190del) | gnomAD v4 |
| 16 | g.51141744_51141752dup | CA2633181099 | SALL1 | c.472_480dup (p.Gly160_Gly161insSerSerGly) c.181_189dup (p.Gly63_Gly64insSerSerGly) c.77-4198_77-4190dup (n.77-4198_77-4190dup) | gnomAD v4 |
| 16 | g.51141744_51141764del | CA8053458 | SALL1 | c.460_480del (p.Ser154_Gly160del) c.169_189del (p.Ser57_Gly63del) c.77-4210_77-4190del (n.77-4210_77-4190del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141744_51141762delinsCGCTGCTGCTGCTGCTGCT | CA2222022874 | SALL1 | c.460_478delinsAGCAGCAGCAGCAGCAGCG (p.Ser154=) c.169_187delinsAGCAGCAGCAGCAGCAGCG (p.Ser57=) c.77-4210_77-4192delinsAGCAGCAGCAGCAGCAGCG (n.77-4210_77-4192delinsAGCAGCAGCAGCAGCAGCG) | |
| 16 | g.51141748_51141749insATGCTG | CA2732413135 | SALL1 | c.477_478insATCAGC (p.Ser159_Gly160insIleSer) c.186_187insATCAGC (p.Ser62_Gly63insIleSer) c.77-4193_77-4192insATCAGC (n.77-4193_77-4192insATCAGC) | dbSNP |
| 16 | g.51141749_51141750insCGCTGCTGC | CA2633181109 | SALL1 | c.477_478insAGCGGCAGC (p.Ser159_Gly160insSerGlySer) c.186_187insAGCGGCAGC (p.Ser62_Gly63insSerGlySer) c.77-4193_77-4192insAGCGGCAGC (n.77-4193_77-4192insAGCGGCAGC) | gnomAD v4 |
| 16 | g.51141752_51141753insCGCTGCTGCTGCTGC | CA977259199 | SALL1 | c.477_478insAGCAGCGGCAGCAGC (p.Ser159_Gly160insSerSerGlySerSer) c.186_187insAGCAGCGGCAGCAGC (p.Ser62_Gly63insSerSerGlySerSer) c.77-4193_77-4192insAGCAGCGGCAGCAGC (n.77-4193_77-4192insAGCAGCGGCAGCAGC) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51141757_51141758insTTGCTGCTGCTGCTG | CA2633181107 | SALL1 | c.477_478insAACAGCAGCAGCAGC (p.Ser159_Gly160insAsnSerSerSerSer) c.186_187insAACAGCAGCAGCAGC (p.Ser62_Gly63insAsnSerSerSerSer) c.77-4193_77-4192insAACAGCAGCAGCAGC (n.77-4193_77-4192insAACAGCAGCAGCAGC) | gnomAD v4 |
| 16 | g.51141772_51141774dup | CA201620 | SALL1 | c.475_477dup (p.Ser159_Gly160insSer) c.184_186dup (p.Ser62_Gly63insSer) c.77-4195_77-4193dup (n.77-4195_77-4193dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.51141769_51141774dup | CA8053464 | SALL1 | c.472_477dup (p.Ser159_Gly160insSerSer) c.181_186dup (p.Ser62_Gly63insSerSer) c.77-4198_77-4193dup (n.77-4198_77-4193dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141766_51141774dup | CA8053462 | SALL1 | c.469_477dup (p.Ser159_Gly160insSerSerSer) c.178_186dup (p.Ser62_Gly63insSerSerSer) c.77-4201_77-4193dup (n.77-4201_77-4193dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.51141763_51141774dup | CA8053465 | SALL1 | c.466_477dup (p.Ser159_Gly160insSerSerSerSer) c.175_186dup (p.Ser62_Gly63insSerSerSerSer) c.77-4204_77-4193dup (n.77-4204_77-4193dup) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 16 | g.51141760_51141774dup | CA977259204 | SALL1 | c.463_477dup (p.Ser159_Gly160insSerSerSerSerSer) c.172_186dup (p.Ser62_Gly63insSerSerSerSerSer) c.77-4207_77-4193dup (n.77-4207_77-4193dup) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51141757_51141774dup | CA2222022949 | SALL1 | c.460_477dup (p.Ser159_Gly160insSerSerSerSerSerSer) c.169_186dup (p.Ser62_Gly63insSerSerSerSerSerSer) c.77-4210_77-4193dup (n.77-4210_77-4193dup) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51141754_51141774dup | CA2633181110 | SALL1 | c.457_477dup (p.Ser159_Gly160insSerSerSerSerSerSerSer) c.166_186dup (p.Ser62_Gly63insSerSerSerSerSerSerSer) c.77-4213_77-4193dup (n.77-4213_77-4193dup) | gnomAD v4 |
| 16 | g.51141751_51141774dup | CA977259210 | SALL1 | c.454_477dup (p.Ser159_Gly160insSerSerSerSerSerSerSerSer) c.163_186dup (p.Ser62_Gly63insSerSerSerSerSerSerSerSer) c.77-4216_77-4193dup (n.77-4216_77-4193dup) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51141748_51141774dup | CA2633181106 | SALL1 | c.451_477dup (p.Ser159_Gly160insSerSerSerSerSerSerSerSerSer) c.160_186dup (p.Ser62_Gly63insSerSerSerSerSerSerSerSerSer) c.77-4219_77-4193dup (n.77-4219_77-4193dup) | gnomAD v4 |
| 16 | g.51141772_51141774del | CA241491 | SALL1 | c.475_477del (p.Ser159del) c.184_186del (p.Ser62del) c.77-4195_77-4193del (n.77-4195_77-4193del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.51141769_51141774del | CA495781495 | SALL1 | c.472_477del (p.Ser158_Ser159del) c.181_186del (p.Ser61_Ser62del) c.77-4198_77-4193del (n.77-4198_77-4193del) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51141766_51141774del | CA8053463 | SALL1 | c.469_477del (p.Ser157_Ser159del) c.178_186del (p.Ser60_Ser62del) c.77-4201_77-4193del (n.77-4201_77-4193del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.51141763_51141774del | CA281303117 | SALL1 | c.466_477del (p.Ser156_Ser159del) c.175_186del (p.Ser59_Ser62del) c.77-4204_77-4193del (n.77-4204_77-4193del) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51141760_51141774del | CA281303118 | SALL1 | c.463_477del (p.Ser155_Ser159del) c.172_186del (p.Ser58_Ser62del) c.77-4207_77-4193del (n.77-4207_77-4193del) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51141757_51141774del | CA2222022925 | SALL1 | c.460_477del (p.Ser154_Ser159del) c.169_186del (p.Ser57_Ser62del) c.77-4210_77-4193del (n.77-4210_77-4193del) | dbSNP gnomAD v4 |
| 16 | g.51141746_51141748delinsCTG | CA2222022963 | SALL1 | c.474_476delinsCAG (p.Ser158=) c.183_185delinsCAG (p.Ser61=) c.77-4196_77-4194delinsCAG (n.77-4196_77-4194delinsCAG) | |
| 16 | g.51141747T>A | CA395891824 | SALL1 | c.475A>T (p.Ser159Cys) c.184A>T (p.Ser62Cys) c.77-4195A>T (n.77-4195A>T) | |
| 16 | g.51141747T>C | CA8053468 | SALL1 | c.475A>G (p.Ser159Gly) c.184A>G (p.Ser62Gly) c.77-4195A>G (n.77-4195A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141747T>G | CA395891826 | SALL1 | c.475A>C (p.Ser159Arg) c.184A>C (p.Ser62Arg) c.77-4195A>C (n.77-4195A>C) | |
| 16 | g.51141747T= | CA2222022972 | SALL1 | c.475A= (p.Ser159=) c.184A= (p.Ser62=) c.77-4195A= (n.77-4195A=) | |
| 16 | g.51141747_51141748del | CA8053467 | SALL1 | c.474_475del (p.Ser158ArgfsTer?) c.183_184del (p.Ser61ArgfsTer?) c.77-4196_77-4195del (n.77-4196_77-4195del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141748_51141749insTTG | CA2732413155 | SALL1 | c.475_476insACA (p.Ser158_Ser159insAsn) c.184_185insACA (p.Ser61_Ser62insAsn) c.77-4195_77-4194insACA (n.77-4195_77-4194insACA) | dbSNP |
| 16 | g.51141747_51141750delinsC | CA2740093330 | SALL1 | c.472_475delinsG (p.Ser158_Ser159delinsGly) c.181_184delinsG (p.Ser61_Ser62delinsGly) c.77-4198_77-4195delinsG (n.77-4198_77-4195delinsG) | |
| 16 | g.51141747_51141753delinsC | CA2580091584 | SALL1 | c.469_475delinsG (p.Ser157_Ser159delinsGly) c.178_184delinsG (p.Ser60_Ser62delinsGly) c.77-4201_77-4195delinsG (n.77-4201_77-4195delinsG) | ClinVar |
| 16 | g.51141747_51141759delinsC | CA2573054239 | SALL1 | c.463_475delinsG (p.Ser155_Ser159delinsGly) c.172_184delinsG (p.Ser58_Ser62delinsGly) c.77-4207_77-4195delinsG (n.77-4207_77-4195delinsG) | ClinVar dbSNP |
| 16 | g.51141748del | CA2633181112 | SALL1 | c.474del (p.Ser158ArgfsTer25) c.183del (p.Ser61ArgfsTer25) c.77-4196del (n.77-4196del) | gnomAD v4 |
| 16 | g.51141748G>A | CA8053469 | SALL1 | c.474C>T (p.Ser158=) c.183C>T (p.Ser61=) c.77-4196C>T (n.77-4196C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51141748G>C | CA395891828 | SALL1 | c.474C>G (p.Ser158Arg) c.183C>G (p.Ser61Arg) c.77-4196C>G (n.77-4196C>G) | |
| 16 | g.51141748G= | CA2222022980 | SALL1 | c.474C= (p.Ser158=) c.183C= (p.Ser61=) c.77-4196C= (n.77-4196C=) | |
| 16 | g.51141748G>T | CA395891829 | SALL1 | c.474C>A (p.Ser158Arg) c.183C>A (p.Ser61Arg) c.77-4196C>A (n.77-4196C>A) | |
| 16 | g.51141749_51141750insCGC | CA2575992069 | SALL1 | c.474_475insGGC (p.Ser158_Ser159insGly) c.183_184insGGC (p.Ser61_Ser62insGly) c.77-4196_77-4195insGGC (n.77-4196_77-4195insGGC) | gnomAD v4 |
| 16 | g.51141752_51141753insCGCTGC | CA2633181111 | SALL1 | c.474_475insGGCAGC (p.Ser158_Ser159insGlySer) c.183_184insGGCAGC (p.Ser61_Ser62insGlySer) c.77-4196_77-4195insGGCAGC (n.77-4196_77-4195insGGCAGC) | gnomAD v4 |
| 16 | g.51141749C>A | CA395891830 | SALL1 | c.473G>T (p.Ser158Ile) c.182G>T (p.Ser61Ile) c.77-4197G>T (n.77-4197G>T) | |
| 16 | g.51141749C>G | CA395891832 | SALL1 | c.473G>C (p.Ser158Thr) c.182G>C (p.Ser61Thr) c.77-4197G>C (n.77-4197G>C) |