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.51141270G>A | CA395890267 | SALL1 | c.952C>T (p.Pro318Ser) c.661C>T (p.Pro221Ser) c.77-3718C>T (n.77-3718C>T) | dbSNP |
16 | g.51141270G>C | CA8053367 | SALL1 | c.952C>G (p.Pro318Ala) c.661C>G (p.Pro221Ala) c.77-3718C>G (n.77-3718C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141270G= | CA2222021793 | SALL1 | c.952C= (p.Pro318=) c.661C= (p.Pro221=) c.77-3718C= (n.77-3718C=) | |
16 | g.51141270G>T | CA395890269 | SALL1 | c.952C>A (p.Pro318Thr) c.661C>A (p.Pro221Thr) c.77-3718C>A (n.77-3718C>A) | dbSNP gnomAD v4 |
16 | g.51141271G>A | CA495781300 | SALL1 | c.951C>T (p.Pro317=) c.660C>T (p.Pro220=) c.77-3719C>T (n.77-3719C>T) | |
16 | g.51141271G>C | CA495781302 | SALL1 | c.951C>G (p.Pro317=) c.660C>G (p.Pro220=) c.77-3719C>G (n.77-3719C>G) | |
16 | g.51141271G>T | CA495781301 | SALL1 | c.951C>A (p.Pro317=) c.660C>A (p.Pro220=) c.77-3719C>A (n.77-3719C>A) | |
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) |