OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.51141273del | CA2740093329 | SALL1 | c.953del (p.Pro318GlnfsTer24) c.662del (p.Pro221GlnfsTer24) c.77-3717del (n.77-3717del) | ClinVar |
| 16 | g.51141271_51141282del | CA2807012910 | SALL1 | c.940_951del (p.Lys314_Pro317del) c.649_660del (p.Lys217_Pro220del) c.77-3730_77-3719del (n.77-3730_77-3719del) | |
| 16 | g.51141272G>A | CA395890271 | SALL1 | c.950C>T (p.Pro317Leu) c.659C>T (p.Pro220Leu) c.77-3720C>T (n.77-3720C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51141272G>C | CA395890272 | SALL1 | c.950C>G (p.Pro317Arg) c.659C>G (p.Pro220Arg) c.77-3720C>G (n.77-3720C>G) | |
| 16 | g.51141272G= | CA2222021802 | SALL1 | c.950C= (p.Pro317=) c.659C= (p.Pro220=) c.77-3720C= (n.77-3720C=) | |
| 16 | g.51141272G>T | CA8053368 | SALL1 | c.950C>A (p.Pro317His) c.659C>A (p.Pro220His) c.77-3720C>A (n.77-3720C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141273G>A | CA339760 | SALL1 | c.949C>T (p.Pro317Ser) c.658C>T (p.Pro220Ser) c.77-3721C>T (n.77-3721C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51141273G>C | CA395890273 | SALL1 | c.949C>G (p.Pro317Ala) c.658C>G (p.Pro220Ala) c.77-3721C>G (n.77-3721C>G) | |
| 16 | g.51141273G= | CA2222021805 | SALL1 | c.949C= (p.Pro317=) c.658C= (p.Pro220=) c.77-3721C= (n.77-3721C=) | |
| 16 | g.51141273G>T | CA395890275 | SALL1 | c.949C>A (p.Pro317Thr) c.658C>A (p.Pro220Thr) c.77-3721C>A (n.77-3721C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51141274T>A | CA495781306 | SALL1 | c.948A>T (p.Leu316=) c.657A>T (p.Leu219=) c.77-3722A>T (n.77-3722A>T) | |
| 16 | g.51141274T>C | CA8053369 | SALL1 | c.948A>G (p.Leu316=) c.657A>G (p.Leu219=) c.77-3722A>G (n.77-3722A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51141274T>G | CA495781307 | SALL1 | c.948A>C (p.Leu316=) c.657A>C (p.Leu219=) c.77-3722A>C (n.77-3722A>C) | |
| 16 | g.51141274T= | CA2222021810 | SALL1 | c.948A= (p.Leu316=) c.657A= (p.Leu219=) c.77-3722A= (n.77-3722A=) | |
| 16 | g.51141275A= | CA2222021812 | SALL1 | c.947T= (p.Leu316=) c.656T= (p.Leu219=) c.77-3723T= (n.77-3723T=) | |
| 16 | g.51141275A>C | CA395890277 | SALL1 | c.947T>G (p.Leu316Arg) c.656T>G (p.Leu219Arg) c.77-3723T>G (n.77-3723T>G) | |
| 16 | g.51141275A>G | CA395890278 | SALL1 | c.947T>C (p.Leu316Pro) c.656T>C (p.Leu219Pro) c.77-3723T>C (n.77-3723T>C) | gnomAD v4 |
| 16 | g.51141275A>T | CA395890280 | SALL1 | c.947T>A (p.Leu316Gln) c.656T>A (p.Leu219Gln) c.77-3723T>A (n.77-3723T>A) | dbSNP |
| 16 | g.51141276G>A | CA495781308 | SALL1 | c.946C>T (p.Leu316=) c.655C>T (p.Leu219=) c.77-3724C>T (n.77-3724C>T) | |
| 16 | g.51141276G>C | CA395890282 | SALL1 | c.946C>G (p.Leu316Val) c.655C>G (p.Leu219Val) c.77-3724C>G (n.77-3724C>G) | |
| 16 | g.51141276G>T | CA395890283 | SALL1 | c.946C>A (p.Leu316Ile) c.655C>A (p.Leu219Ile) c.77-3724C>A (n.77-3724C>A) | |
| 16 | g.51141277C>A | CA395890285 | SALL1 | c.945G>T (p.Gln315His) c.654G>T (p.Gln218His) c.77-3725G>T (n.77-3725G>T) | gnomAD v4 |
| 16 | g.51141277C>G | CA395890286 | SALL1 | c.945G>C (p.Gln315His) c.654G>C (p.Gln218His) c.77-3725G>C (n.77-3725G>C) | |
| 16 | g.51141277C>T | CA495781310 | SALL1 | c.945G>A (p.Gln315=) c.654G>A (p.Gln218=) c.77-3725G>A (n.77-3725G>A) | gnomAD v4 |
| 16 | g.51141278T>A | CA395890288 | SALL1 | c.944A>T (p.Gln315Leu) c.653A>T (p.Gln218Leu) c.77-3726A>T (n.77-3726A>T) | |
| 16 | g.51141278T>C | CA395890289 | SALL1 | c.944A>G (p.Gln315Arg) c.653A>G (p.Gln218Arg) c.77-3726A>G (n.77-3726A>G) | gnomAD v4 |
| 16 | g.51141278T>G | CA395890290 | SALL1 | c.944A>C (p.Gln315Pro) c.653A>C (p.Gln218Pro) c.77-3726A>C (n.77-3726A>C) | gnomAD v4 |
| 16 | g.51141279G>A | CA395890292 | SALL1 | c.943C>T (p.Gln315Ter) c.652C>T (p.Gln218Ter) c.77-3727C>T (n.77-3727C>T) | |
| 16 | g.51141279G>C | CA8053371 | SALL1 | c.943C>G (p.Gln315Glu) c.652C>G (p.Gln218Glu) c.77-3727C>G (n.77-3727C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51141279G= | CA2222021817 | SALL1 | c.943C= (p.Gln315=) c.652C= (p.Gln218=) c.77-3727C= (n.77-3727C=) | |
| 16 | g.51141279G>T | CA8053370 | SALL1 | c.943C>A (p.Gln315Lys) c.652C>A (p.Gln218Lys) c.77-3727C>A (n.77-3727C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51141280T>A | CA395890295 | SALL1 | c.942A>T (p.Lys314Asn) c.651A>T (p.Lys217Asn) c.77-3728A>T (n.77-3728A>T) | |
| 16 | g.51141280T>C | CA495781311 | SALL1 | c.942A>G (p.Lys314=) c.651A>G (p.Lys217=) c.77-3728A>G (n.77-3728A>G) | |
| 16 | g.51141280T>G | CA395890296 | SALL1 | c.942A>C (p.Lys314Asn) c.651A>C (p.Lys217Asn) c.77-3728A>C (n.77-3728A>C) | |
| 16 | g.51141281T>A | CA395890298 | SALL1 | c.941A>T (p.Lys314Ile) c.650A>T (p.Lys217Ile) c.77-3729A>T (n.77-3729A>T) | |
| 16 | g.51141281T>C | CA395890300 | SALL1 | c.941A>G (p.Lys314Arg) c.650A>G (p.Lys217Arg) c.77-3729A>G (n.77-3729A>G) | |
| 16 | g.51141281T>G | CA281302829 | SALL1 | c.941A>C (p.Lys314Thr) c.650A>C (p.Lys217Thr) c.77-3729A>C (n.77-3729A>C) | dbSNP |
| 16 | g.51141281T= | CA2222021823 | SALL1 | c.941A= (p.Lys314=) c.650A= (p.Lys217=) c.77-3729A= (n.77-3729A=) | |
| 16 | g.51141282T>A | CA395890302 | SALL1 | c.940A>T (p.Lys314Ter) c.649A>T (p.Lys217Ter) c.77-3730A>T (n.77-3730A>T) | |
| 16 | g.51141282T>C | CA395890305 | SALL1 | c.940A>G (p.Lys314Glu) c.649A>G (p.Lys217Glu) c.77-3730A>G (n.77-3730A>G) | |
| 16 | g.51141282T>G | CA395890303 | SALL1 | c.940A>C (p.Lys314Gln) c.649A>C (p.Lys217Gln) c.77-3730A>C (n.77-3730A>C) | |
| 16 | g.51141283C>A | CA495781313 | SALL1 | c.939G>T (p.Val313=) c.648G>T (p.Val216=) c.77-3731G>T (n.77-3731G>T) | ClinVar dbSNP gnomAD v4 |
| 16 | g.51141283C= | CA2222021828 | SALL1 | c.939G= (p.Val313=) c.648G= (p.Val216=) c.77-3731G= (n.77-3731G=) | |
| 16 | g.51141283C>G | CA495781315 | SALL1 | c.939G>C (p.Val313=) c.648G>C (p.Val216=) c.77-3731G>C (n.77-3731G>C) | |
| 16 | g.51141283C>T | CA495781314 | SALL1 | c.939G>A (p.Val313=) c.648G>A (p.Val216=) c.77-3731G>A (n.77-3731G>A) | COSMIC |
| 16 | g.51141284A>C | CA395890306 | SALL1 | c.938T>G (p.Val313Gly) c.647T>G (p.Val216Gly) c.77-3732T>G (n.77-3732T>G) | |
| 16 | g.51141284A>G | CA395890308 | SALL1 | c.938T>C (p.Val313Ala) c.647T>C (p.Val216Ala) c.77-3732T>C (n.77-3732T>C) | |
| 16 | g.51141284A>T | CA395890310 | SALL1 | c.938T>A (p.Val313Glu) c.647T>A (p.Val216Glu) c.77-3732T>A (n.77-3732T>A) | |
| 16 | g.51141285C>A | CA395890311 | SALL1 | c.937G>T (p.Val313Leu) c.646G>T (p.Val216Leu) c.77-3733G>T (n.77-3733G>T) | |
| 16 | g.51141285C= | CA2222021830 | SALL1 | c.937G= (p.Val313=) c.646G= (p.Val216=) c.77-3733G= (n.77-3733G=) | |
| 16 | g.51141285C>G | CA395890313 | SALL1 | c.937G>C (p.Val313Leu) c.646G>C (p.Val216Leu) c.77-3733G>C (n.77-3733G>C) | |
| 16 | g.51141285C>T | CA8053372 | SALL1 | c.937G>A (p.Val313Met) c.646G>A (p.Val216Met) c.77-3733G>A (n.77-3733G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51141287_51141301del | CA2807012911 | SALL1 | c.923_937del (p.Ala308_Gly312del) c.632_646del (p.Ala211_Gly215del) c.77-3747_77-3733del (n.77-3747_77-3733del) | |
| 16 | g.51141286A>C | CA495781318 | SALL1 | c.936T>G (p.Gly312=) c.645T>G (p.Gly215=) c.77-3734T>G (n.77-3734T>G) | |
| 16 | g.51141286A>G | CA495781319 | SALL1 | c.936T>C (p.Gly312=) c.645T>C (p.Gly215=) c.77-3734T>C (n.77-3734T>C) | |
| 16 | g.51141286A>T | CA495781320 | SALL1 | c.936T>A (p.Gly312=) c.645T>A (p.Gly215=) c.77-3734T>A (n.77-3734T>A) | |
| 16 | g.51141287C>A | CA395890318 | SALL1 | c.935G>T (p.Gly312Val) c.644G>T (p.Gly215Val) c.77-3735G>T (n.77-3735G>T) | gnomAD v4 |
| 16 | g.51141287C= | CA2222021834 | SALL1 | c.935G= (p.Gly312=) c.644G= (p.Gly215=) c.77-3735G= (n.77-3735G=) | |
| 16 | g.51141287C>G | CA395890315 | SALL1 | c.935G>C (p.Gly312Ala) c.644G>C (p.Gly215Ala) c.77-3735G>C (n.77-3735G>C) | |
| 16 | g.51141287C>T | CA395890316 | SALL1 | c.935G>A (p.Gly312Asp) c.644G>A (p.Gly215Asp) c.77-3735G>A (n.77-3735G>A) | dbSNP |
| 16 | g.51141288C>A | CA395890320 | SALL1 | c.934G>T (p.Gly312Cys) c.643G>T (p.Gly215Cys) c.77-3736G>T (n.77-3736G>T) | |
| 16 | g.51141288C>G | CA395890322 | SALL1 | c.934G>C (p.Gly312Arg) c.643G>C (p.Gly215Arg) c.77-3736G>C (n.77-3736G>C) | |
| 16 | g.51141288C>T | CA395890323 | SALL1 | c.934G>A (p.Gly312Ser) c.643G>A (p.Gly215Ser) c.77-3736G>A (n.77-3736G>A) | |
| 16 | g.51141288_51141291delinsCACT | CA2222021837 | SALL1 | c.931_934delinsAGTG (p.Ser311=) c.640_643delinsAGTG (p.Ser214=) c.77-3739_77-3736delinsAGTG (n.77-3739_77-3736delinsAGTG) | |
| 16 | g.51141289A>C | CA395890324 | SALL1 | c.933T>G (p.Ser311Arg) c.642T>G (p.Ser214Arg) c.77-3737T>G (n.77-3737T>G) | |
| 16 | g.51141289A>G | CA495781322 | SALL1 | c.933T>C (p.Ser311=) c.642T>C (p.Ser214=) c.77-3737T>C (n.77-3737T>C) | |
| 16 | g.51141289A>T | CA395890326 | SALL1 | c.933T>A (p.Ser311Arg) c.642T>A (p.Ser214Arg) c.77-3737T>A (n.77-3737T>A) | |
| 16 | g.51141290_51141292del | CA721393721 | SALL1 | c.931_933del (p.Ser311del) c.640_642del (p.Ser214del) c.77-3739_77-3737del (n.77-3739_77-3737del) | dbSNP |
| 16 | g.51141290C>A | CA395890328 | SALL1 | c.932G>T (p.Ser311Ile) c.641G>T (p.Ser214Ile) c.77-3738G>T (n.77-3738G>T) | |
| 16 | g.51141290C= | CA2222021845 | SALL1 | c.932G= (p.Ser311=) c.641G= (p.Ser214=) c.77-3738G= (n.77-3738G=) | |
| 16 | g.51141290C>G | CA395890331 | SALL1 | c.932G>C (p.Ser311Thr) c.641G>C (p.Ser214Thr) c.77-3738G>C (n.77-3738G>C) | |
| 16 | g.51141290C>T | CA395890329 | SALL1 | c.932G>A (p.Ser311Asn) c.641G>A (p.Ser214Asn) c.77-3738G>A (n.77-3738G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51141291T>A | CA395890333 | SALL1 | c.931A>T (p.Ser311Cys) c.640A>T (p.Ser214Cys) c.77-3739A>T (n.77-3739A>T) | |
| 16 | g.51141291T>C | CA395890334 | SALL1 | c.931A>G (p.Ser311Gly) c.640A>G (p.Ser214Gly) c.77-3739A>G (n.77-3739A>G) | |
| 16 | g.51141291T>G | CA395890336 | SALL1 | c.931A>C (p.Ser311Arg) c.640A>C (p.Ser214Arg) c.77-3739A>C (n.77-3739A>C) | |
| 16 | g.51141292A= | CA2222021850 | SALL1 | c.930T= (p.Ile310=) c.639T= (p.Ile213=) c.77-3740T= (n.77-3740T=) | |
| 16 | g.51141292A>C | CA395890337 | SALL1 | c.930T>G (p.Ile310Met) c.639T>G (p.Ile213Met) c.77-3740T>G (n.77-3740T>G) | |
| 16 | g.51141292A>G | CA8053373 | SALL1 | c.930T>C (p.Ile310=) c.639T>C (p.Ile213=) c.77-3740T>C (n.77-3740T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51141292A>T | CA495781324 | SALL1 | c.930T>A (p.Ile310=) c.639T>A (p.Ile213=) c.77-3740T>A (n.77-3740T>A) | |
| 16 | g.51141293A>C | CA395890339 | SALL1 | c.929T>G (p.Ile310Ser) c.638T>G (p.Ile213Ser) c.77-3741T>G (n.77-3741T>G) | |
| 16 | g.51141293A>G | CA395890341 | SALL1 | c.929T>C (p.Ile310Thr) c.638T>C (p.Ile213Thr) c.77-3741T>C (n.77-3741T>C) | |
| 16 | g.51141293A>T | CA395890342 | SALL1 | c.929T>A (p.Ile310Asn) c.638T>A (p.Ile213Asn) c.77-3741T>A (n.77-3741T>A) | |
| 16 | g.51141294T>A | CA395890344 | SALL1 | c.928A>T (p.Ile310Phe) c.637A>T (p.Ile213Phe) c.77-3742A>T (n.77-3742A>T) | |
| 16 | g.51141294T>C | CA395890345 | SALL1 | c.928A>G (p.Ile310Val) c.637A>G (p.Ile213Val) c.77-3742A>G (n.77-3742A>G) | |
| 16 | g.51141294T>G | CA395890346 | SALL1 | c.928A>C (p.Ile310Leu) c.637A>C (p.Ile213Leu) c.77-3742A>C (n.77-3742A>C) | gnomAD v4 |
| 16 | g.51141295G>A | CA495781325 | SALL1 | c.927C>T (p.Ser309=) c.636C>T (p.Ser212=) c.77-3743C>T (n.77-3743C>T) | |
| 16 | g.51141295G>C | CA395890348 | SALL1 | c.927C>G (p.Ser309Arg) c.636C>G (p.Ser212Arg) c.77-3743C>G (n.77-3743C>G) | |
| 16 | g.51141295G>T | CA395890350 | SALL1 | c.927C>A (p.Ser309Arg) c.636C>A (p.Ser212Arg) c.77-3743C>A (n.77-3743C>A) | |
| 16 | g.51141296C>A | CA395890352 | SALL1 | c.926G>T (p.Ser309Ile) c.635G>T (p.Ser212Ile) c.77-3744G>T (n.77-3744G>T) | |
| 16 | g.51141296C>G | CA395890354 | SALL1 | c.926G>C (p.Ser309Thr) c.635G>C (p.Ser212Thr) c.77-3744G>C (n.77-3744G>C) | |
| 16 | g.51141296C>T | CA395890353 | SALL1 | c.926G>A (p.Ser309Asn) c.635G>A (p.Ser212Asn) c.77-3744G>A (n.77-3744G>A) | |
| 16 | g.51141297T>A | CA395890357 | SALL1 | c.925A>T (p.Ser309Cys) c.634A>T (p.Ser212Cys) c.77-3745A>T (n.77-3745A>T) | |
| 16 | g.51141297T>C | CA395890360 | SALL1 | c.925A>G (p.Ser309Gly) c.634A>G (p.Ser212Gly) c.77-3745A>G (n.77-3745A>G) | |
| 16 | g.51141297T>G | CA395890358 | SALL1 | c.925A>C (p.Ser309Arg) c.634A>C (p.Ser212Arg) c.77-3745A>C (n.77-3745A>C) | |
| 16 | g.51141298G>A | CA495781326 | SALL1 | c.924C>T (p.Ala308=) c.633C>T (p.Ala211=) c.77-3746C>T (n.77-3746C>T) | |
| 16 | g.51141298G>C | CA495781327 | SALL1 | c.924C>G (p.Ala308=) c.633C>G (p.Ala211=) c.77-3746C>G (n.77-3746C>G) | COSMIC |
| 16 | g.51141298G>T | CA495781329 | SALL1 | c.924C>A (p.Ala308=) c.633C>A (p.Ala211=) c.77-3746C>A (n.77-3746C>A) | COSMIC |
| 16 | g.51141299G>A | CA395890361 | SALL1 | c.923C>T (p.Ala308Val) c.632C>T (p.Ala211Val) c.77-3747C>T (n.77-3747C>T) | dbSNP |
| 16 | g.51141299G>C | CA395890364 | SALL1 | c.923C>G (p.Ala308Gly) c.632C>G (p.Ala211Gly) c.77-3747C>G (n.77-3747C>G) | |
| 16 | g.51141299G>T | CA395890362 | SALL1 | c.923C>A (p.Ala308Asp) c.632C>A (p.Ala211Asp) c.77-3747C>A (n.77-3747C>A) | |
| 16 | g.51141300C>A | CA395890366 | SALL1 | c.922G>T (p.Ala308Ser) c.631G>T (p.Ala211Ser) c.77-3748G>T (n.77-3748G>T) | COSMIC |
| 16 | g.51141300C>G | CA395890369 | SALL1 | c.922G>C (p.Ala308Pro) c.631G>C (p.Ala211Pro) c.77-3748G>C (n.77-3748G>C) | |
| 16 | g.51141300C>T | CA395890367 | SALL1 | c.922G>A (p.Ala308Thr) c.631G>A (p.Ala211Thr) c.77-3748G>A (n.77-3748G>A) | |
| 16 | g.51141301A= | CA2222021854 | SALL1 | c.921T= (p.Ser307=) c.630T= (p.Ser210=) c.77-3749T= (n.77-3749T=) | |
| 16 | g.51141301A>C | CA495781331 | SALL1 | c.921T>G (p.Ser307=) c.630T>G (p.Ser210=) c.77-3749T>G (n.77-3749T>G) | |
| 16 | g.51141301A>G | CA495781332 | SALL1 | c.921T>C (p.Ser307=) c.630T>C (p.Ser210=) c.77-3749T>C (n.77-3749T>C) | dbSNP |
| 16 | g.51141301A>T | CA495781333 | SALL1 | c.921T>A (p.Ser307=) c.630T>A (p.Ser210=) c.77-3749T>A (n.77-3749T>A) | |
| 16 | g.51141302G>A | CA395890370 | SALL1 | c.920C>T (p.Ser307Phe) c.629C>T (p.Ser210Phe) c.77-3750C>T (n.77-3750C>T) | |
| 16 | g.51141302G>C | CA395890374 | SALL1 | c.920C>G (p.Ser307Cys) c.629C>G (p.Ser210Cys) c.77-3750C>G (n.77-3750C>G) | gnomAD v4 |
| 16 | g.51141302G>T | CA395890372 | SALL1 | c.920C>A (p.Ser307Tyr) c.629C>A (p.Ser210Tyr) c.77-3750C>A (n.77-3750C>A) | COSMIC |
| 16 | g.51141303A>C | CA395890375 | SALL1 | c.919T>G (p.Ser307Ala) c.628T>G (p.Ser210Ala) c.77-3751T>G (n.77-3751T>G) | |
| 16 | g.51141303A>G | CA395890377 | SALL1 | c.919T>C (p.Ser307Pro) c.628T>C (p.Ser210Pro) c.77-3751T>C (n.77-3751T>C) | |
| 16 | g.51141303A>T | CA395890376 | SALL1 | c.919T>A (p.Ser307Thr) c.628T>A (p.Ser210Thr) c.77-3751T>A (n.77-3751T>A) | |
| 16 | g.51141304T>A | CA395890379 | SALL1 | c.918A>T (p.Gln306His) c.627A>T (p.Gln209His) c.77-3752A>T (n.77-3752A>T) | |
| 16 | g.51141304T>C | CA495781337 | SALL1 | c.918A>G (p.Gln306=) c.627A>G (p.Gln209=) c.77-3752A>G (n.77-3752A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51141304T>G | CA395890381 | SALL1 | c.918A>C (p.Gln306His) c.627A>C (p.Gln209His) c.77-3752A>C (n.77-3752A>C) | |
| 16 | g.51141304T= | CA2222021860 | SALL1 | c.918A= (p.Gln306=) c.627A= (p.Gln209=) c.77-3752A= (n.77-3752A=) | |
| 16 | g.51141305T>A | CA395890383 | SALL1 | c.917A>T (p.Gln306Leu) c.626A>T (p.Gln209Leu) c.77-3753A>T (n.77-3753A>T) | |
| 16 | g.51141305T>C | CA395890384 | SALL1 | c.917A>G (p.Gln306Arg) c.626A>G (p.Gln209Arg) c.77-3753A>G (n.77-3753A>G) | |
| 16 | g.51141305T>G | CA395890385 | SALL1 | c.917A>C (p.Gln306Pro) c.626A>C (p.Gln209Pro) c.77-3753A>C (n.77-3753A>C) | |
| 16 | g.51141306G>A | CA395890387 | SALL1 | c.916C>T (p.Gln306Ter) c.625C>T (p.Gln209Ter) c.77-3754C>T (n.77-3754C>T) | |
| 16 | g.51141306G>C | CA395890388 | SALL1 | c.916C>G (p.Gln306Glu) c.625C>G (p.Gln209Glu) c.77-3754C>G (n.77-3754C>G) | |
| 16 | g.51141306G>T | CA395890390 | SALL1 | c.916C>A (p.Gln306Lys) c.625C>A (p.Gln209Lys) c.77-3754C>A (n.77-3754C>A) | |
| 16 | g.51141307G>A | CA495781338 | SALL1 | c.915C>T (p.Ser305=) c.624C>T (p.Ser208=) c.77-3755C>T (n.77-3755C>T) | |
| 16 | g.51141307G>C | CA395890391 | SALL1 | c.915C>G (p.Ser305Arg) c.624C>G (p.Ser208Arg) c.77-3755C>G (n.77-3755C>G) | |
| 16 | g.51141307G>T | CA395890393 | SALL1 | c.915C>A (p.Ser305Arg) c.624C>A (p.Ser208Arg) c.77-3755C>A (n.77-3755C>A) | |
| 16 | g.51141308C>A | CA395890394 | SALL1 | c.914G>T (p.Ser305Ile) c.623G>T (p.Ser208Ile) c.77-3756G>T (n.77-3756G>T) | |
| 16 | g.51141308C= | CA2222021865 | SALL1 | c.914G= (p.Ser305=) c.623G= (p.Ser208=) c.77-3756G= (n.77-3756G=) | |
| 16 | g.51141308C>G | CA395890396 | SALL1 | c.914G>C (p.Ser305Thr) c.623G>C (p.Ser208Thr) c.77-3756G>C (n.77-3756G>C) | |
| 16 | g.51141308C>T | CA8053374 | SALL1 | c.914G>A (p.Ser305Asn) c.623G>A (p.Ser208Asn) c.77-3756G>A (n.77-3756G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51141309T>A | CA395890401 | SALL1 | c.913A>T (p.Ser305Cys) c.622A>T (p.Ser208Cys) c.77-3757A>T (n.77-3757A>T) | |
| 16 | g.51141309T>C | CA395890399 | SALL1 | c.913A>G (p.Ser305Gly) c.622A>G (p.Ser208Gly) c.77-3757A>G (n.77-3757A>G) | |
| 16 | g.51141309T>G | CA395890400 | SALL1 | c.913A>C (p.Ser305Arg) c.622A>C (p.Ser208Arg) c.77-3757A>C (n.77-3757A>C) | |
| 16 | g.51141310G>A | CA495781340 | SALL1 | c.912C>T (p.Ala304=) c.621C>T (p.Ala207=) c.77-3758C>T (n.77-3758C>T) | dbSNP |
| 16 | g.51141310G>C | CA495781341 | SALL1 | c.912C>G (p.Ala304=) c.621C>G (p.Ala207=) c.77-3758C>G (n.77-3758C>G) | |
| 16 | g.51141310G>T | CA495781342 | SALL1 | c.912C>A (p.Ala304=) c.621C>A (p.Ala207=) c.77-3758C>A (n.77-3758C>A) | |
| 16 | g.51141311G>A | CA395890403 | SALL1 | c.911C>T (p.Ala304Val) c.620C>T (p.Ala207Val) c.77-3759C>T (n.77-3759C>T) | COSMIC |
| 16 | g.51141311G>C | CA395890404 | SALL1 | c.911C>G (p.Ala304Gly) c.620C>G (p.Ala207Gly) c.77-3759C>G (n.77-3759C>G) | |
| 16 | g.51141311G>T | CA395890406 | SALL1 | c.911C>A (p.Ala304Asp) c.620C>A (p.Ala207Asp) c.77-3759C>A (n.77-3759C>A) | |
| 16 | g.51141312C>A | CA395890408 | SALL1 | c.910G>T (p.Ala304Ser) c.619G>T (p.Ala207Ser) c.77-3760G>T (n.77-3760G>T) | |
| 16 | g.51141312C= | CA2222021870 | SALL1 | c.910G= (p.Ala304=) c.619G= (p.Ala207=) c.77-3760G= (n.77-3760G=) | |
| 16 | g.51141312C>G | CA8053375 | SALL1 | c.910G>C (p.Ala304Pro) c.619G>C (p.Ala207Pro) c.77-3760G>C (n.77-3760G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51141312C>T | CA8053376 | SALL1 | c.910G>A (p.Ala304Thr) c.619G>A (p.Ala207Thr) c.77-3760G>A (n.77-3760G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.51141313G>A | CA8053377 | SALL1 | c.909C>T (p.Leu303=) c.618C>T (p.Leu206=) c.77-3761C>T (n.77-3761C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141313G>C | CA495781347 | SALL1 | c.909C>G (p.Leu303=) c.618C>G (p.Leu206=) c.77-3761C>G (n.77-3761C>G) | |
| 16 | g.51141313G= | CA2222021875 | SALL1 | c.909C= (p.Leu303=) c.618C= (p.Leu206=) c.77-3761C= (n.77-3761C=) | |
| 16 | g.51141313G>T | CA495781346 | SALL1 | c.909C>A (p.Leu303=) c.618C>A (p.Leu206=) c.77-3761C>A (n.77-3761C>A) | |
| 16 | g.51141314A= | CA2222021880 | SALL1 | c.908T= (p.Leu303=) c.617T= (p.Leu206=) c.77-3762T= (n.77-3762T=) | |
| 16 | g.51141314A>C | CA395890410 | SALL1 | c.908T>G (p.Leu303Arg) c.617T>G (p.Leu206Arg) c.77-3762T>G (n.77-3762T>G) | |
| 16 | g.51141314A>G | CA8053378 | SALL1 | c.908T>C (p.Leu303Pro) c.617T>C (p.Leu206Pro) c.77-3762T>C (n.77-3762T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51141314A>T | CA395890412 | SALL1 | c.908T>A (p.Leu303His) c.617T>A (p.Leu206His) c.77-3762T>A (n.77-3762T>A) | |
| 16 | g.51141315G>A | CA8053379 | SALL1 | c.907C>T (p.Leu303Phe) c.616C>T (p.Leu206Phe) c.77-3763C>T (n.77-3763C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51141315G>C | CA395890416 | SALL1 | c.907C>G (p.Leu303Val) c.616C>G (p.Leu206Val) c.77-3763C>G (n.77-3763C>G) | |
| 16 | g.51141315G= | CA2222021885 | SALL1 | c.907C= (p.Leu303=) c.616C= (p.Leu206=) c.77-3763C= (n.77-3763C=) | |
| 16 | g.51141315G>T | CA395890414 | SALL1 | c.907C>A (p.Leu303Ile) c.616C>A (p.Leu206Ile) c.77-3763C>A (n.77-3763C>A) | |
| 16 | g.51141316G>A | CA495781351 | SALL1 | c.906C>T (p.Ser302=) c.615C>T (p.Ser205=) c.77-3764C>T (n.77-3764C>T) | |
| 16 | g.51141316G>C | CA395890417 | SALL1 | c.906C>G (p.Ser302Arg) c.615C>G (p.Ser205Arg) c.77-3764C>G (n.77-3764C>G) | |
| 16 | g.51141316G>T | CA395890419 | SALL1 | c.906C>A (p.Ser302Arg) c.615C>A (p.Ser205Arg) c.77-3764C>A (n.77-3764C>A) | |
| 16 | g.51141317C>A | CA395890421 | SALL1 | c.905G>T (p.Ser302Ile) c.614G>T (p.Ser205Ile) c.77-3765G>T (n.77-3765G>T) | |
| 16 | g.51141317C= | CA2222021887 | SALL1 | c.905G= (p.Ser302=) c.614G= (p.Ser205=) c.77-3765G= (n.77-3765G=) | |
| 16 | g.51141317C>G | CA395890422 | SALL1 | c.905G>C (p.Ser302Thr) c.614G>C (p.Ser205Thr) c.77-3765G>C (n.77-3765G>C) | |
| 16 | g.51141317C>T | CA395890423 | SALL1 | c.905G>A (p.Ser302Asn) c.614G>A (p.Ser205Asn) c.77-3765G>A (n.77-3765G>A) | dbSNP gnomAD v4 |
| 16 | g.51141318T>A | CA395890428 | SALL1 | c.904A>T (p.Ser302Cys) c.613A>T (p.Ser205Cys) c.77-3766A>T (n.77-3766A>T) | |
| 16 | g.51141318T>C | CA395890425 | SALL1 | c.904A>G (p.Ser302Gly) c.613A>G (p.Ser205Gly) c.77-3766A>G (n.77-3766A>G) | |
| 16 | g.51141318T>G | CA395890427 | SALL1 | c.904A>C (p.Ser302Arg) c.613A>C (p.Ser205Arg) c.77-3766A>C (n.77-3766A>C) | gnomAD v4 |
| 16 | g.51141319C>A | CA395890430 | SALL1 | c.903G>T (p.Gln301His) c.612G>T (p.Gln204His) c.77-3767G>T (n.77-3767G>T) | |
| 16 | g.51141319C>G | CA395890431 | SALL1 | c.903G>C (p.Gln301His) c.612G>C (p.Gln204His) c.77-3767G>C (n.77-3767G>C) | gnomAD v4 |
| 16 | g.51141319C>T | CA495781355 | SALL1 | c.903G>A (p.Gln301=) c.612G>A (p.Gln204=) c.77-3767G>A (n.77-3767G>A) | dbSNP |
| 16 | g.51141320T>A | CA395890433 | SALL1 | c.902A>T (p.Gln301Leu) c.611A>T (p.Gln204Leu) c.77-3768A>T (n.77-3768A>T) | |
| 16 | g.51141320T>C | CA395890434 | SALL1 | c.902A>G (p.Gln301Arg) c.611A>G (p.Gln204Arg) c.77-3768A>G (n.77-3768A>G) | |
| 16 | g.51141320T>G | CA395890435 | SALL1 | c.902A>C (p.Gln301Pro) c.611A>C (p.Gln204Pro) c.77-3768A>C (n.77-3768A>C) | |
| 16 | g.51141320dup | CA2695223400 | SALL1 | c.902dup (p.Ser302GlufsTer10) c.611dup (p.Ser205GlufsTer10) c.77-3768dup (n.77-3768dup) | |
| 16 | g.51141321G>A | CA395890437 | SALL1 | c.901C>T (p.Gln301Ter) c.610C>T (p.Gln204Ter) c.77-3769C>T (n.77-3769C>T) | |
| 16 | g.51141321G>C | CA395890440 | SALL1 | c.901C>G (p.Gln301Glu) c.610C>G (p.Gln204Glu) c.77-3769C>G (n.77-3769C>G) | gnomAD v4 |
| 16 | g.51141321G>T | CA395890438 | SALL1 | c.901C>A (p.Gln301Lys) c.610C>A (p.Gln204Lys) c.77-3769C>A (n.77-3769C>A) | |
| 16 | g.51141322T>A | CA495781356 | SALL1 | c.900A>T (p.Ala300=) c.609A>T (p.Ala203=) c.77-3770A>T (n.77-3770A>T) | |
| 16 | g.51141322T>C | CA495781357 | SALL1 | c.900A>G (p.Ala300=) c.609A>G (p.Ala203=) c.77-3770A>G (n.77-3770A>G) | |
| 16 | g.51141322T>G | CA495781358 | SALL1 | c.900A>C (p.Ala300=) c.609A>C (p.Ala203=) c.77-3770A>C (n.77-3770A>C) | dbSNP |
| 16 | g.51141322T= | CA2222021889 | SALL1 | c.900A= (p.Ala300=) c.609A= (p.Ala203=) c.77-3770A= (n.77-3770A=) | |
| 16 | g.51141323G>A | CA395890441 | SALL1 | c.899C>T (p.Ala300Val) c.608C>T (p.Ala203Val) c.77-3771C>T (n.77-3771C>T) | gnomAD v4 |
| 16 | g.51141323G>C | CA395890442 | SALL1 | c.899C>G (p.Ala300Gly) c.608C>G (p.Ala203Gly) c.77-3771C>G (n.77-3771C>G) | |
| 16 | g.51141323G>T | CA395890443 | SALL1 | c.899C>A (p.Ala300Glu) c.608C>A (p.Ala203Glu) c.77-3771C>A (n.77-3771C>A) | |
| 16 | g.51141324C>A | CA395890445 | SALL1 | c.898G>T (p.Ala300Ser) c.607G>T (p.Ala203Ser) c.77-3772G>T (n.77-3772G>T) | dbSNP |
| 16 | g.51141324C= | CA2222021896 | SALL1 | c.898G= (p.Ala300=) c.607G= (p.Ala203=) c.77-3772G= (n.77-3772G=) | |
| 16 | g.51141324C>G | CA395890446 | SALL1 | c.898G>C (p.Ala300Pro) c.607G>C (p.Ala203Pro) c.77-3772G>C (n.77-3772G>C) | |
| 16 | g.51141324C>T | CA395890447 | SALL1 | c.898G>A (p.Ala300Thr) c.607G>A (p.Ala203Thr) c.77-3772G>A (n.77-3772G>A) | |
| 16 | g.51141325C>A | CA395890449 | SALL1 | c.897G>T (p.Leu299Phe) c.606G>T (p.Leu202Phe) c.77-3773G>T (n.77-3773G>T) | |
| 16 | g.51141325C>G | CA395890451 | SALL1 | c.897G>C (p.Leu299Phe) c.606G>C (p.Leu202Phe) c.77-3773G>C (n.77-3773G>C) | |
| 16 | g.51141325C>T | CA495781362 | SALL1 | c.897G>A (p.Leu299=) c.606G>A (p.Leu202=) c.77-3773G>A (n.77-3773G>A) | |
| 16 | g.51141326A>C | CA395890452 | SALL1 | c.896T>G (p.Leu299Trp) c.605T>G (p.Leu202Trp) c.77-3774T>G (n.77-3774T>G) | |
| 16 | g.51141326A>G | CA395890454 | SALL1 | c.896T>C (p.Leu299Ser) c.605T>C (p.Leu202Ser) c.77-3774T>C (n.77-3774T>C) | |
| 16 | g.51141326A>T | CA395890455 | SALL1 | c.896T>A (p.Leu299Ter) c.605T>A (p.Leu202Ter) c.77-3774T>A (n.77-3774T>A) | |
| 16 | g.51141327A>C | CA395890456 | SALL1 | c.895T>G (p.Leu299Val) c.604T>G (p.Leu202Val) c.77-3775T>G (n.77-3775T>G) | |
| 16 | g.51141327A>G | CA495781364 | SALL1 | c.895T>C (p.Leu299=) c.604T>C (p.Leu202=) c.77-3775T>C (n.77-3775T>C) | |
| 16 | g.51141327A>T | CA395890457 | SALL1 | c.895T>A (p.Leu299Met) c.604T>A (p.Leu202Met) c.77-3775T>A (n.77-3775T>A) | |
| 16 | g.51141328T>A | CA495781365 | SALL1 | c.894A>T (p.Gly298=) c.603A>T (p.Gly201=) c.77-3776A>T (n.77-3776A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51141328T>C | CA495781367 | SALL1 | c.894A>G (p.Gly298=) c.603A>G (p.Gly201=) c.77-3776A>G (n.77-3776A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51141328T>G | CA495781366 | SALL1 | c.894A>C (p.Gly298=) c.603A>C (p.Gly201=) c.77-3776A>C (n.77-3776A>C) | |
| 16 | g.51141328T= | CA2222021900 | SALL1 | c.894A= (p.Gly298=) c.603A= (p.Gly201=) c.77-3776A= (n.77-3776A=) | |
| 16 | g.51141329C>A | CA395890460 | SALL1 | c.893G>T (p.Gly298Val) c.602G>T (p.Gly201Val) c.77-3777G>T (n.77-3777G>T) | |
| 16 | g.51141329C>G | CA395890462 | SALL1 | c.893G>C (p.Gly298Ala) c.602G>C (p.Gly201Ala) c.77-3777G>C (n.77-3777G>C) | COSMIC |
| 16 | g.51141329C>T | CA395890461 | SALL1 | c.893G>A (p.Gly298Glu) c.602G>A (p.Gly201Glu) c.77-3777G>A (n.77-3777G>A) | gnomAD v4 COSMIC |
| 16 | g.51141339_51141351dup | CA2499223548 | SALL1 | c.881_893dup (p.Leu299SerfsTer17) c.590_602dup (p.Leu202SerfsTer17) c.77-3789_77-3777dup (n.77-3789_77-3777dup) | ClinVar dbSNP |
| 16 | g.51141330C>A | CA395890464 | SALL1 | c.892G>T (p.Gly298Ter) c.601G>T (p.Gly201Ter) c.77-3778G>T (n.77-3778G>T) | |
| 16 | g.51141330C>G | CA395890465 | SALL1 | c.892G>C (p.Gly298Arg) c.601G>C (p.Gly201Arg) c.77-3778G>C (n.77-3778G>C) | |
| 16 | g.51141330C>T | CA395890467 | SALL1 | c.892G>A (p.Gly298Arg) c.601G>A (p.Gly201Arg) c.77-3778G>A (n.77-3778G>A) | COSMIC |
| 16 | g.51141331A= | CA2222021902 | SALL1 | c.891T= (p.Ala297=) c.600T= (p.Ala200=) c.77-3779T= (n.77-3779T=) | |
| 16 | g.51141331A>C | CA495781369 | SALL1 | c.891T>G (p.Ala297=) c.600T>G (p.Ala200=) c.77-3779T>G (n.77-3779T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51141331A>G | CA495781370 | SALL1 | c.891T>C (p.Ala297=) c.600T>C (p.Ala200=) c.77-3779T>C (n.77-3779T>C) | dbSNP |
| 16 | g.51141331A>T | CA495781371 | SALL1 | c.891T>A (p.Ala297=) c.600T>A (p.Ala200=) c.77-3779T>A (n.77-3779T>A) | |
| 16 | g.51141332G>A | CA281302850 | SALL1 | c.890C>T (p.Ala297Val) c.599C>T (p.Ala200Val) c.77-3780C>T (n.77-3780C>T) | dbSNP COSMIC |
| 16 | g.51141332G>C | CA395890469 | SALL1 | c.890C>G (p.Ala297Gly) c.599C>G (p.Ala200Gly) c.77-3780C>G (n.77-3780C>G) | |
| 16 | g.51141332G= | CA2222021906 | SALL1 | c.890C= (p.Ala297=) c.599C= (p.Ala200=) c.77-3780C= (n.77-3780C=) | |
| 16 | g.51141332G>T | CA395890470 | SALL1 | c.890C>A (p.Ala297Asp) c.599C>A (p.Ala200Asp) c.77-3780C>A (n.77-3780C>A) | |
| 16 | g.51141333C>A | CA395890472 | SALL1 | c.889G>T (p.Ala297Ser) c.598G>T (p.Ala200Ser) c.77-3781G>T (n.77-3781G>T) | |
| 16 | g.51141333C>G | CA395890473 | SALL1 | c.889G>C (p.Ala297Pro) c.598G>C (p.Ala200Pro) c.77-3781G>C (n.77-3781G>C) | |
| 16 | g.51141333C>T | CA395890475 | SALL1 | c.889G>A (p.Ala297Thr) c.598G>A (p.Ala200Thr) c.77-3781G>A (n.77-3781G>A) | |
| 16 | g.51141334T>A | CA495781376 | SALL1 | c.888A>T (p.Ala296=) c.597A>T (p.Ala199=) c.77-3782A>T (n.77-3782A>T) | |
| 16 | g.51141334T>C | CA8053380 | SALL1 | c.888A>G (p.Ala296=) c.597A>G (p.Ala199=) c.77-3782A>G (n.77-3782A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51141334T>G | CA495781375 | SALL1 | c.888A>C (p.Ala296=) c.597A>C (p.Ala199=) c.77-3782A>C (n.77-3782A>C) | |
| 16 | g.51141334T= | CA2222021911 | SALL1 | c.888A= (p.Ala296=) c.597A= (p.Ala199=) c.77-3782A= (n.77-3782A=) | |
| 16 | g.51141335G>A | CA395890480 | SALL1 | c.887C>T (p.Ala296Val) c.596C>T (p.Ala199Val) c.77-3783C>T (n.77-3783C>T) | |
| 16 | g.51141335G>C | CA395890477 | SALL1 | c.887C>G (p.Ala296Gly) c.596C>G (p.Ala199Gly) c.77-3783C>G (n.77-3783C>G) | |
| 16 | g.51141335G>T | CA395890479 | SALL1 | c.887C>A (p.Ala296Glu) c.596C>A (p.Ala199Glu) c.77-3783C>A (n.77-3783C>A) | |
| 16 | g.51141342_51141351del | CA2580091581 | SALL1 | c.878_887del (p.Leu293GlnfsTer18) c.587_596del (p.Leu196GlnfsTer18) c.77-3792_77-3783del (n.77-3792_77-3783del) | ClinVar |
| 16 | g.51141336C>A | CA395890482 | SALL1 | c.886G>T (p.Ala296Ser) c.595G>T (p.Ala199Ser) c.77-3784G>T (n.77-3784G>T) | |
| 16 | g.51141336C= | CA2222021912 | SALL1 | c.886G= (p.Ala296=) c.595G= (p.Ala199=) c.77-3784G= (n.77-3784G=) | |
| 16 | g.51141336C>G | CA395890483 | SALL1 | c.886G>C (p.Ala296Pro) c.595G>C (p.Ala199Pro) c.77-3784G>C (n.77-3784G>C) | dbSNP |
| 16 | g.51141336C>T | CA395890485 | SALL1 | c.886G>A (p.Ala296Thr) c.595G>A (p.Ala199Thr) c.77-3784G>A (n.77-3784G>A) | gnomAD v4 |
| 16 | g.51141337T>A | CA495781377 | SALL1 | c.885A>T (p.Ala295=) c.594A>T (p.Ala198=) c.77-3785A>T (n.77-3785A>T) | |
| 16 | g.51141337T>C | CA8053381 | SALL1 | c.885A>G (p.Ala295=) c.594A>G (p.Ala198=) c.77-3785A>G (n.77-3785A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51141337T>G | CA495781379 | SALL1 | c.885A>C (p.Ala295=) c.594A>C (p.Ala198=) c.77-3785A>C (n.77-3785A>C) | |
| 16 | g.51141337T= | CA2222021917 | SALL1 | c.885A= (p.Ala295=) c.594A= (p.Ala198=) c.77-3785A= (n.77-3785A=) | |
| 16 | g.51141338G>A | CA395890487 | SALL1 | c.884C>T (p.Ala295Val) c.593C>T (p.Ala198Val) c.77-3786C>T (n.77-3786C>T) | COSMIC |
| 16 | g.51141338G>C | CA395890489 | SALL1 | c.884C>G (p.Ala295Gly) c.593C>G (p.Ala198Gly) c.77-3786C>G (n.77-3786C>G) | |
| 16 | g.51141338G>T | CA395890490 | SALL1 | c.884C>A (p.Ala295Glu) c.593C>A (p.Ala198Glu) c.77-3786C>A (n.77-3786C>A) | |
| 16 | g.51141339C>A | CA395890492 | SALL1 | c.883G>T (p.Ala295Ser) c.592G>T (p.Ala198Ser) c.77-3787G>T (n.77-3787G>T) | |
| 16 | g.51141339C>G | CA395890493 | SALL1 | c.883G>C (p.Ala295Pro) c.592G>C (p.Ala198Pro) c.77-3787G>C (n.77-3787G>C) | |
| 16 | g.51141339C>T | CA395890495 | SALL1 | c.883G>A (p.Ala295Thr) c.592G>A (p.Ala198Thr) c.77-3787G>A (n.77-3787G>A) | |
| 16 | g.51141340T>A | CA495781384 | SALL1 | c.882A>T (p.Ala294=) c.591A>T (p.Ala197=) c.77-3788A>T (n.77-3788A>T) | |
| 16 | g.51141340T>C | CA495781382 | SALL1 | c.882A>G (p.Ala294=) c.591A>G (p.Ala197=) c.77-3788A>G (n.77-3788A>G) | gnomAD v4 COSMIC |
| 16 | g.51141340T>G | CA495781383 | SALL1 | c.882A>C (p.Ala294=) c.591A>C (p.Ala197=) c.77-3788A>C (n.77-3788A>C) | |
| 16 | g.51141341G>A | CA395890498 | SALL1 | c.881C>T (p.Ala294Val) c.590C>T (p.Ala197Val) c.77-3789C>T (n.77-3789C>T) | |
| 16 | g.51141341G>C | CA395890499 | SALL1 | c.881C>G (p.Ala294Gly) c.590C>G (p.Ala197Gly) c.77-3789C>G (n.77-3789C>G) | |
| 16 | g.51141341G>T | CA395890497 | SALL1 | c.881C>A (p.Ala294Glu) c.590C>A (p.Ala197Glu) c.77-3789C>A (n.77-3789C>A) | |
| 16 | g.51141342C>A | CA395890501 | SALL1 | c.880G>T (p.Ala294Ser) c.589G>T (p.Ala197Ser) c.77-3790G>T (n.77-3790G>T) | |
| 16 | g.51141342C>G | CA395890503 | SALL1 | c.880G>C (p.Ala294Pro) c.589G>C (p.Ala197Pro) c.77-3790G>C (n.77-3790G>C) | |
| 16 | g.51141342C>T | CA395890504 | SALL1 | c.880G>A (p.Ala294Thr) c.589G>A (p.Ala197Thr) c.77-3790G>A (n.77-3790G>A) | |
| 16 | g.51141343C>A | CA495781388 | SALL1 | c.879G>T (p.Leu293=) c.588G>T (p.Leu196=) c.77-3791G>T (n.77-3791G>T) | |
| 16 | g.51141343C>G | CA495781389 | SALL1 | c.879G>C (p.Leu293=) c.588G>C (p.Leu196=) c.77-3791G>C (n.77-3791G>C) | |
| 16 | g.51141343C>T | CA495781390 | SALL1 | c.879G>A (p.Leu293=) c.588G>A (p.Leu196=) c.77-3791G>A (n.77-3791G>A) | |
| 16 | g.51141344A>C | CA395890506 | SALL1 | c.878T>G (p.Leu293Arg) c.587T>G (p.Leu196Arg) c.77-3792T>G (n.77-3792T>G) | |
| 16 | g.51141344A>G | CA395890508 | SALL1 | c.878T>C (p.Leu293Pro) c.587T>C (p.Leu196Pro) c.77-3792T>C (n.77-3792T>C) | |
| 16 | g.51141344A>T | CA395890509 | SALL1 | c.878T>A (p.Leu293Gln) c.587T>A (p.Leu196Gln) c.77-3792T>A (n.77-3792T>A) | |
| 16 | g.51141345G>A | CA495781391 | SALL1 | c.877C>T (p.Leu293=) c.586C>T (p.Leu196=) c.77-3793C>T (n.77-3793C>T) | |
| 16 | g.51141345G>C | CA395890511 | SALL1 | c.877C>G (p.Leu293Val) c.586C>G (p.Leu196Val) c.77-3793C>G (n.77-3793C>G) | |
| 16 | g.51141345G>T | CA395890512 | SALL1 | c.877C>A (p.Leu293Met) c.586C>A (p.Leu196Met) c.77-3793C>A (n.77-3793C>A) | |
| 16 | g.51141346C>A | CA395890513 | SALL1 | c.876G>T (p.Gln292His) c.585G>T (p.Gln195His) c.77-3794G>T (n.77-3794G>T) | |
| 16 | g.51141346C>G | CA395890515 | SALL1 | c.876G>C (p.Gln292His) c.585G>C (p.Gln195His) c.77-3794G>C (n.77-3794G>C) | |
| 16 | g.51141346C>T | CA495781394 | SALL1 | c.876G>A (p.Gln292=) c.585G>A (p.Gln195=) c.77-3794G>A (n.77-3794G>A) | |
| 16 | g.51141347T>A | CA395890517 | SALL1 | c.875A>T (p.Gln292Leu) c.584A>T (p.Gln195Leu) c.77-3795A>T (n.77-3795A>T) | |
| 16 | g.51141347T>C | CA8053382 | SALL1 | c.875A>G (p.Gln292Arg) c.584A>G (p.Gln195Arg) c.77-3795A>G (n.77-3795A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141347T>G | CA395890519 | SALL1 | c.875A>C (p.Gln292Pro) c.584A>C (p.Gln195Pro) c.77-3795A>C (n.77-3795A>C) | |
| 16 | g.51141347T= | CA2222021926 | SALL1 | c.875A= (p.Gln292=) c.584A= (p.Gln195=) c.77-3795A= (n.77-3795A=) | |
| 16 | g.51141348G>A | CA395890520 | SALL1 | c.874C>T (p.Gln292Ter) c.583C>T (p.Gln195Ter) c.77-3796C>T (n.77-3796C>T) | ClinVar |
| 16 | g.51141348G>C | CA395890524 | SALL1 | c.874C>G (p.Gln292Glu) c.583C>G (p.Gln195Glu) c.77-3796C>G (n.77-3796C>G) | |
| 16 | g.51141348G>T | CA395890522 | SALL1 | c.874C>A (p.Gln292Lys) c.583C>A (p.Gln195Lys) c.77-3796C>A (n.77-3796C>A) | COSMIC |
| 16 | g.51141349C>A | CA395890525 | SALL1 | c.873G>T (p.Gln291His) c.582G>T (p.Gln194His) c.77-3797G>T (n.77-3797G>T) | |
| 16 | g.51141349C>G | CA395890527 | SALL1 | c.873G>C (p.Gln291His) c.582G>C (p.Gln194His) c.77-3797G>C (n.77-3797G>C) | |
| 16 | g.51141349C>T | CA495781395 | SALL1 | c.873G>A (p.Gln291=) c.582G>A (p.Gln194=) c.77-3797G>A (n.77-3797G>A) | gnomAD v4 |
| 16 | g.51141350T>A | CA395890528 | SALL1 | c.872A>T (p.Gln291Leu) c.581A>T (p.Gln194Leu) c.77-3798A>T (n.77-3798A>T) | |
| 16 | g.51141350T>C | CA395890529 | SALL1 | c.872A>G (p.Gln291Arg) c.581A>G (p.Gln194Arg) c.77-3798A>G (n.77-3798A>G) | |
| 16 | g.51141350T>G | CA395890531 | SALL1 | c.872A>C (p.Gln291Pro) c.581A>C (p.Gln194Pro) c.77-3798A>C (n.77-3798A>C) | gnomAD v4 |
| 16 | g.51141350T= | CA2222021931 | SALL1 | c.872A= (p.Gln291=) c.581A= (p.Gln194=) c.77-3798A= (n.77-3798A=) | |
| 16 | g.51141351G>A | CA395890533 | SALL1 | c.871C>T (p.Gln291Ter) c.580C>T (p.Gln194Ter) c.77-3799C>T (n.77-3799C>T) | ClinVar dbSNP |
| 16 | g.51141351G>C | CA395890535 | SALL1 | c.871C>G (p.Gln291Glu) c.580C>G (p.Gln194Glu) c.77-3799C>G (n.77-3799C>G) | |
| 16 | g.51141351G= | CA2222021950 | SALL1 | c.871C= (p.Gln291=) c.580C= (p.Gln194=) c.77-3799C= (n.77-3799C=) | |
| 16 | g.51141351G>T | CA395890536 | SALL1 | c.871C>A (p.Gln291Lys) c.580C>A (p.Gln194Lys) c.77-3799C>A (n.77-3799C>A) | |
| 16 | g.51141353_51141354dup | CA10603327 | SALL1 | c.870_871dup (p.Gln291LeufsTer24) c.579_580dup (p.Gln194LeufsTer24) c.77-3800_77-3799dup (n.77-3800_77-3799dup) | ClinVar dbSNP |
| 16 | g.51141352A>C | CA495781396 | SALL1 | c.870T>G (p.Ser290=) c.579T>G (p.Ser193=) c.77-3800T>G (n.77-3800T>G) | |
| 16 | g.51141352A>G | CA495781397 | SALL1 | c.870T>C (p.Ser290=) c.579T>C (p.Ser193=) c.77-3800T>C (n.77-3800T>C) | |
| 16 | g.51141352A>T | CA495781398 | SALL1 | c.870T>A (p.Ser290=) c.579T>A (p.Ser193=) c.77-3800T>A (n.77-3800T>A) | |
| 16 | g.51141352dup | CA2499223549 | SALL1 | c.870dup (p.Gln291SerfsTer21) c.579dup (p.Gln194SerfsTer21) c.77-3800dup (n.77-3800dup) | ClinVar dbSNP |
| 16 | g.51141353G>A | CA395890539 | SALL1 | c.869C>T (p.Ser290Phe) c.578C>T (p.Ser193Phe) c.77-3801C>T (n.77-3801C>T) | |
| 16 | g.51141353G>C | CA395890540 | SALL1 | c.869C>G (p.Ser290Cys) c.578C>G (p.Ser193Cys) c.77-3801C>G (n.77-3801C>G) | |
| 16 | g.51141353G>T | CA395890542 | SALL1 | c.869C>A (p.Ser290Tyr) c.578C>A (p.Ser193Tyr) c.77-3801C>A (n.77-3801C>A) | |
| 16 | g.51141354A>C | CA395890544 | SALL1 | c.868T>G (p.Ser290Ala) c.577T>G (p.Ser193Ala) c.77-3802T>G (n.77-3802T>G) | |
| 16 | g.51141354A>G | CA395890546 | SALL1 | c.868T>C (p.Ser290Pro) c.577T>C (p.Ser193Pro) c.77-3802T>C (n.77-3802T>C) | ClinVar gnomAD v4 |
| 16 | g.51141354A>T | CA395890543 | SALL1 | c.868T>A (p.Ser290Thr) c.577T>A (p.Ser193Thr) c.77-3802T>A (n.77-3802T>A) | |
| 16 | g.51141355T>A | CA395890550 | SALL1 | c.867A>T (p.Leu289Phe) c.576A>T (p.Leu192Phe) c.77-3803A>T (n.77-3803A>T) | |
| 16 | g.51141355T>C | CA495781399 | SALL1 | c.867A>G (p.Leu289=) c.576A>G (p.Leu192=) c.77-3803A>G (n.77-3803A>G) | |
| 16 | g.51141355T>G | CA395890548 | SALL1 | c.867A>C (p.Leu289Phe) c.576A>C (p.Leu192Phe) c.77-3803A>C (n.77-3803A>C) | |
| 16 | g.51141356A= | CA2222021956 | SALL1 | c.866T= (p.Leu289=) c.575T= (p.Leu192=) c.77-3804T= (n.77-3804T=) | |
| 16 | g.51141356A>C | CA395890554 | SALL1 | c.866T>G (p.Leu289Ter) c.575T>G (p.Leu192Ter) c.77-3804T>G (n.77-3804T>G) | |
| 16 | g.51141356A>G | CA395890551 | SALL1 | c.866T>C (p.Leu289Ser) c.575T>C (p.Leu192Ser) c.77-3804T>C (n.77-3804T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51141356A>T | CA395890552 | SALL1 | c.866T>A (p.Leu289Ter) c.575T>A (p.Leu192Ter) c.77-3804T>A (n.77-3804T>A) | ClinVar dbSNP |
| 16 | g.51141357A>C | CA395890556 | SALL1 | c.865T>G (p.Leu289Val) c.574T>G (p.Leu192Val) c.77-3805T>G (n.77-3805T>G) | |
| 16 | g.51141357A>G | CA495781400 | SALL1 | c.865T>C (p.Leu289=) c.574T>C (p.Leu192=) c.77-3805T>C (n.77-3805T>C) | |
| 16 | g.51141357A>T | CA395890558 | SALL1 | c.865T>A (p.Leu289Ile) c.574T>A (p.Leu192Ile) c.77-3805T>A (n.77-3805T>A) | |
| 16 | g.51141358A>C | CA395890559 | SALL1 | c.864T>G (p.His288Gln) c.573T>G (p.His191Gln) c.77-3806T>G (n.77-3806T>G) | |
| 16 | g.51141358A>G | CA495781401 | SALL1 | c.864T>C (p.His288=) c.573T>C (p.His191=) c.77-3806T>C (n.77-3806T>C) | |
| 16 | g.51141358A>T | CA395890560 | SALL1 | c.864T>A (p.His288Gln) c.573T>A (p.His191Gln) c.77-3806T>A (n.77-3806T>A) | |
| 16 | g.51141359T>A | CA395890562 | SALL1 | c.863A>T (p.His288Leu) c.572A>T (p.His191Leu) c.77-3807A>T (n.77-3807A>T) | |
| 16 | g.51141359T>C | CA395890564 | SALL1 | c.863A>G (p.His288Arg) c.572A>G (p.His191Arg) c.77-3807A>G (n.77-3807A>G) | gnomAD v4 |
| 16 | g.51141359T>G | CA395890565 | SALL1 | c.863A>C (p.His288Pro) c.572A>C (p.His191Pro) c.77-3807A>C (n.77-3807A>C) | |
| 16 | g.51141360G>A | CA8053383 | SALL1 | c.862C>T (p.His288Tyr) c.571C>T (p.His191Tyr) c.77-3808C>T (n.77-3808C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51141360G>C | CA395890567 | SALL1 | c.862C>G (p.His288Asp) c.571C>G (p.His191Asp) c.77-3808C>G (n.77-3808C>G) | |
| 16 | g.51141360G= | CA2222021968 | SALL1 | c.862C= (p.His288=) c.571C= (p.His191=) c.77-3808C= (n.77-3808C=) | |
| 16 | g.51141360G>T | CA395890568 | SALL1 | c.862C>A (p.His288Asn) c.571C>A (p.His191Asn) c.77-3808C>A (n.77-3808C>A) | |
| 16 | g.51141361G>A | CA8053384 | SALL1 | c.861C>T (p.Ser287=) c.570C>T (p.Ser190=) c.77-3809C>T (n.77-3809C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51141361G>C | CA495781403 | SALL1 | c.861C>G (p.Ser287=) c.570C>G (p.Ser190=) c.77-3809C>G (n.77-3809C>G) | |
| 16 | g.51141361G= | CA2222021977 | SALL1 | c.861C= (p.Ser287=) c.570C= (p.Ser190=) c.77-3809C= (n.77-3809C=) | |
| 16 | g.51141361G>T | CA495781402 | SALL1 | c.861C>A (p.Ser287=) c.570C>A (p.Ser190=) c.77-3809C>A (n.77-3809C>A) | |
| 16 | g.51141362G>A | CA281302862 | SALL1 | c.860C>T (p.Ser287Phe) c.569C>T (p.Ser190Phe) c.77-3810C>T (n.77-3810C>T) | dbSNP COSMIC |
| 16 | g.51141362G>C | CA395890572 | SALL1 | c.860C>G (p.Ser287Cys) c.569C>G (p.Ser190Cys) c.77-3810C>G (n.77-3810C>G) | |
| 16 | g.51141362G= | CA2222021991 | SALL1 | c.860C= (p.Ser287=) c.569C= (p.Ser190=) c.77-3810C= (n.77-3810C=) | |
| 16 | g.51141362G>T | CA395890570 | SALL1 | c.860C>A (p.Ser287Tyr) c.569C>A (p.Ser190Tyr) c.77-3810C>A (n.77-3810C>A) | |
| 16 | g.51141363A>C | CA395890573 | SALL1 | c.859T>G (p.Ser287Ala) c.568T>G (p.Ser190Ala) c.77-3811T>G (n.77-3811T>G) | |
| 16 | g.51141363A>G | CA395890575 | SALL1 | c.859T>C (p.Ser287Pro) c.568T>C (p.Ser190Pro) c.77-3811T>C (n.77-3811T>C) | |
| 16 | g.51141363A>T | CA395890576 | SALL1 | c.859T>A (p.Ser287Thr) c.568T>A (p.Ser190Thr) c.77-3811T>A (n.77-3811T>A) | |
| 16 | g.51141364A>C | CA395890577 | SALL1 | c.858T>G (p.Ser286Arg) c.567T>G (p.Ser189Arg) c.77-3812T>G (n.77-3812T>G) | |
| 16 | g.51141364A>G | CA495781404 | SALL1 | c.858T>C (p.Ser286=) c.567T>C (p.Ser189=) c.77-3812T>C (n.77-3812T>C) | |
| 16 | g.51141364A>T | CA395890578 | SALL1 | c.858T>A (p.Ser286Arg) c.567T>A (p.Ser189Arg) c.77-3812T>A (n.77-3812T>A) | |
| 16 | g.51141365C>A | CA395890580 | SALL1 | c.857G>T (p.Ser286Ile) c.566G>T (p.Ser189Ile) c.77-3813G>T (n.77-3813G>T) | |
| 16 | g.51141365C= | CA2222021996 | SALL1 | c.857G= (p.Ser286=) c.566G= (p.Ser189=) c.77-3813G= (n.77-3813G=) | |
| 16 | g.51141365C>G | CA395890582 | SALL1 | c.857G>C (p.Ser286Thr) c.566G>C (p.Ser189Thr) c.77-3813G>C (n.77-3813G>C) | |
| 16 | g.51141365C>T | CA395890583 | SALL1 | c.857G>A (p.Ser286Asn) c.566G>A (p.Ser189Asn) c.77-3813G>A (n.77-3813G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51141366T>A | CA395890585 | SALL1 | c.856A>T (p.Ser286Cys) c.565A>T (p.Ser189Cys) c.77-3814A>T (n.77-3814A>T) | gnomAD v4 |
| 16 | g.51141366T>C | CA395890586 | SALL1 | c.856A>G (p.Ser286Gly) c.565A>G (p.Ser189Gly) c.77-3814A>G (n.77-3814A>G) | |
| 16 | g.51141366T>G | CA395890588 | SALL1 | c.856A>C (p.Ser286Arg) c.565A>C (p.Ser189Arg) c.77-3814A>C (n.77-3814A>C) | |
| 16 | g.51141367T>A | CA8053385 | SALL1 | c.855A>T (p.Leu285=) c.564A>T (p.Leu188=) c.77-3815A>T (n.77-3815A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51141367T>C | CA495781405 | SALL1 | c.855A>G (p.Leu285=) c.564A>G (p.Leu188=) c.77-3815A>G (n.77-3815A>G) | ClinVar dbSNP gnomAD v4 |
| 16 | g.51141367T>G | CA495781406 | SALL1 | c.855A>C (p.Leu285=) c.564A>C (p.Leu188=) c.77-3815A>C (n.77-3815A>C) | |
| 16 | g.51141367T= | CA2222022004 | SALL1 | c.855A= (p.Leu285=) c.564A= (p.Leu188=) c.77-3815A= (n.77-3815A=) | |
| 16 | g.51141368A>C | CA395890592 | SALL1 | c.854T>G (p.Leu285Arg) c.563T>G (p.Leu188Arg) c.77-3816T>G (n.77-3816T>G) | |
| 16 | g.51141368A>G | CA395890590 | SALL1 | c.854T>C (p.Leu285Pro) c.563T>C (p.Leu188Pro) c.77-3816T>C (n.77-3816T>C) | |
| 16 | g.51141368A>T | CA395890591 | SALL1 | c.854T>A (p.Leu285Gln) c.563T>A (p.Leu188Gln) c.77-3816T>A (n.77-3816T>A) | |
| 16 | g.51141369G>A | CA495781407 | SALL1 | c.853C>T (p.Leu285=) c.562C>T (p.Leu188=) c.77-3817C>T (n.77-3817C>T) | |
| 16 | g.51141369G>C | CA395890594 | SALL1 | c.853C>G (p.Leu285Val) c.562C>G (p.Leu188Val) c.77-3817C>G (n.77-3817C>G) | |
| 16 | g.51141369G>T | CA395890596 | SALL1 | c.853C>A (p.Leu285Ile) c.562C>A (p.Leu188Ile) c.77-3817C>A (n.77-3817C>A) | |
| 16 | g.51141370C>A | CA495781408 | SALL1 | c.852G>T (p.Thr284=) c.561G>T (p.Thr187=) c.77-3818G>T (n.77-3818G>T) | |
| 16 | g.51141370C= | CA2222022022 | SALL1 | c.852G= (p.Thr284=) c.561G= (p.Thr187=) c.77-3818G= (n.77-3818G=) | |
| 16 | g.51141370C>G | CA495781409 | SALL1 | c.852G>C (p.Thr284=) c.561G>C (p.Thr187=) c.77-3818G>C (n.77-3818G>C) | |
| 16 | g.51141370C>T | CA8053386 | SALL1 | c.852G>A (p.Thr284=) c.561G>A (p.Thr187=) c.77-3818G>A (n.77-3818G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51141371G>A | CA8053387 | SALL1 | c.851C>T (p.Thr284Met) c.560C>T (p.Thr187Met) c.77-3819C>T (n.77-3819C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141371G>C | CA395890598 | SALL1 | c.851C>G (p.Thr284Arg) c.560C>G (p.Thr187Arg) c.77-3819C>G (n.77-3819C>G) | gnomAD v4 |
| 16 | g.51141371G= | CA2222022024 | SALL1 | c.851C= (p.Thr284=) c.560C= (p.Thr187=) c.77-3819C= (n.77-3819C=) | |
| 16 | g.51141371G>T | CA395890599 | SALL1 | c.851C>A (p.Thr284Lys) c.560C>A (p.Thr187Lys) c.77-3819C>A (n.77-3819C>A) | |
| 16 | g.51141372T>A | CA395890600 | SALL1 | c.850A>T (p.Thr284Ser) c.559A>T (p.Thr187Ser) c.77-3820A>T (n.77-3820A>T) | |
| 16 | g.51141372T>C | CA395890602 | SALL1 | c.850A>G (p.Thr284Ala) c.559A>G (p.Thr187Ala) c.77-3820A>G (n.77-3820A>G) | |
| 16 | g.51141372T>G | CA395890603 | SALL1 | c.850A>C (p.Thr284Pro) c.559A>C (p.Thr187Pro) c.77-3820A>C (n.77-3820A>C) |