Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.51141026_51141104del | CA2695223381 | SALL1 | c.1119_1197del (p.Ser374ArgfsTer17) c.828_906del (p.Ser277ArgfsTer17) c.77-3551_77-3473del (n.77-3551_77-3473del) | |
16 | g.51141066G>A | CA395889279 | SALL1 | c.1156C>T (p.Pro386Ser) c.865C>T (p.Pro289Ser) c.77-3514C>T (n.77-3514C>T) | |
16 | g.51141066G>C | CA395889280 | SALL1 | c.1156C>G (p.Pro386Ala) c.865C>G (p.Pro289Ala) c.77-3514C>G (n.77-3514C>G) | |
16 | g.51141066G>T | CA395889282 | SALL1 | c.1156C>A (p.Pro386Thr) c.865C>A (p.Pro289Thr) c.77-3514C>A (n.77-3514C>A) | |
16 | g.51141067A>C | CA395889285 | SALL1 | c.1155T>G (p.Ser385Arg) c.864T>G (p.Ser288Arg) c.77-3515T>G (n.77-3515T>G) | |
16 | g.51141067A>G | CA495781309 | SALL1 | c.1155T>C (p.Ser385=) c.864T>C (p.Ser288=) c.77-3515T>C (n.77-3515T>C) | |
16 | g.51141067A>T | CA395889287 | SALL1 | c.1155T>A (p.Ser385Arg) c.864T>A (p.Ser288Arg) c.77-3515T>A (n.77-3515T>A) | |
16 | g.51141068C>A | CA395889290 | SALL1 | c.1154G>T (p.Ser385Ile) c.863G>T (p.Ser288Ile) c.77-3516G>T (n.77-3516G>T) | |
16 | g.51141068C= | CA2222021306 | SALL1 | c.1154G= (p.Ser385=) c.863G= (p.Ser288=) c.77-3516G= (n.77-3516G=) | |
16 | g.51141068C>G | CA395889292 | SALL1 | c.1154G>C (p.Ser385Thr) c.863G>C (p.Ser288Thr) c.77-3516G>C (n.77-3516G>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51141068C>T | CA395889299 | SALL1 | c.1154G>A (p.Ser385Asn) c.863G>A (p.Ser288Asn) c.77-3516G>A (n.77-3516G>A) | COSMIC |
16 | g.51141069T>A | CA395889301 | SALL1 | c.1153A>T (p.Ser385Cys) c.862A>T (p.Ser288Cys) c.77-3517A>T (n.77-3517A>T) | |
16 | g.51141069T>C | CA395889303 | SALL1 | c.1153A>G (p.Ser385Gly) c.862A>G (p.Ser288Gly) c.77-3517A>G (n.77-3517A>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51141069T>G | CA395889304 | SALL1 | c.1153A>C (p.Ser385Arg) c.862A>C (p.Ser288Arg) c.77-3517A>C (n.77-3517A>C) | |
16 | g.51141069T= | CA2222021311 | SALL1 | c.1153A= (p.Ser385=) c.862A= (p.Ser288=) c.77-3517A= (n.77-3517A=) | |
16 | g.51141069_51141072delinsTTAA | CA2222021310 | SALL1 | c.1150_1153delinsTTAA (p.Leu384=) c.859_862delinsTTAA (p.Leu287=) c.77-3520_77-3517delinsTTAA (n.77-3520_77-3517delinsTTAA) | |
16 | g.51141070T>A | CA395889307 | SALL1 | c.1152A>T (p.Leu384Phe) c.861A>T (p.Leu287Phe) c.77-3518A>T (n.77-3518A>T) | |
16 | g.51141070T>C | CA495781312 | SALL1 | c.1152A>G (p.Leu384=) c.861A>G (p.Leu287=) c.77-3518A>G (n.77-3518A>G) | |
16 | g.51141070T>G | CA395889309 | SALL1 | c.1152A>C (p.Leu384Phe) c.861A>C (p.Leu287Phe) c.77-3518A>C (n.77-3518A>C) | |
16 | g.51141073_51141075del | CA8053331 | SALL1 | c.1150_1152del (p.Leu384del) c.859_861del (p.Leu287del) c.77-3520_77-3518del (n.77-3520_77-3518del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51141071A>C | CA395889314 | SALL1 | c.1151T>G (p.Leu384Ter) c.860T>G (p.Leu287Ter) c.77-3519T>G (n.77-3519T>G) | |
16 | g.51141071A>G | CA395889316 | SALL1 | c.1151T>C (p.Leu384Ser) c.860T>C (p.Leu287Ser) c.77-3519T>C (n.77-3519T>C) | |
16 | g.51141071A>T | CA395889313 | SALL1 | c.1151T>A (p.Leu384Ter) c.860T>A (p.Leu287Ter) c.77-3519T>A (n.77-3519T>A) | |
16 | g.51141072A= | CA2222021322 | SALL1 | c.1150T= (p.Leu384=) c.859T= (p.Leu287=) c.77-3520T= (n.77-3520T=) | |
16 | g.51141072A>C | CA395889317 | SALL1 | c.1150T>G (p.Leu384Val) c.859T>G (p.Leu287Val) c.77-3520T>G (n.77-3520T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141072A>G | CA495781316 | SALL1 | c.1150T>C (p.Leu384=) c.859T>C (p.Leu287=) c.77-3520T>C (n.77-3520T>C) | |
16 | g.51141072A>T | CA395889319 | SALL1 | c.1150T>A (p.Leu384Ile) c.859T>A (p.Leu287Ile) c.77-3520T>A (n.77-3520T>A) | |
16 | g.51141073T>A | CA395889321 | SALL1 | c.1149A>T (p.Leu383Phe) c.858A>T (p.Leu286Phe) c.77-3521A>T (n.77-3521A>T) | |
16 | g.51141073T>C | CA495781317 | SALL1 | c.1149A>G (p.Leu383=) c.858A>G (p.Leu286=) c.77-3521A>G (n.77-3521A>G) | |
16 | g.51141073T>G | CA395889323 | SALL1 | c.1149A>C (p.Leu383Phe) c.858A>C (p.Leu286Phe) c.77-3521A>C (n.77-3521A>C) | |
16 | g.51141074A>C | CA395889326 | SALL1 | c.1148T>G (p.Leu383Ter) c.857T>G (p.Leu286Ter) c.77-3522T>G (n.77-3522T>G) | |
16 | g.51141074A>G | CA395889330 | SALL1 | c.1148T>C (p.Leu383Ser) c.857T>C (p.Leu286Ser) c.77-3522T>C (n.77-3522T>C) | gnomAD v4 |
16 | g.51141074A>T | CA395889327 | SALL1 | c.1148T>A (p.Leu383Ter) c.857T>A (p.Leu286Ter) c.77-3522T>A (n.77-3522T>A) | |
16 | g.51141076del | CA2695223383 | SALL1 | c.1148del (p.Leu383TyrfsTer2) c.857del (p.Leu286TyrfsTer2) c.77-3522del (n.77-3522del) | ClinVar |
16 | g.51141075A>C | CA395889332 | SALL1 | c.1147T>G (p.Leu383Val) c.856T>G (p.Leu286Val) c.77-3523T>G (n.77-3523T>G) | |
16 | g.51141075A>G | CA495781321 | SALL1 | c.1147T>C (p.Leu383=) c.856T>C (p.Leu286=) c.77-3523T>C (n.77-3523T>C) | |
16 | g.51141075A>T | CA395889334 | SALL1 | c.1147T>A (p.Leu383Ile) c.856T>A (p.Leu286Ile) c.77-3523T>A (n.77-3523T>A) | |
16 | g.51141076A>C | CA395889336 | SALL1 | c.1146T>G (p.Ser382Arg) c.855T>G (p.Ser285Arg) c.77-3524T>G (n.77-3524T>G) | |
16 | g.51141076A>G | CA495781323 | SALL1 | c.1146T>C (p.Ser382=) c.855T>C (p.Ser285=) c.77-3524T>C (n.77-3524T>C) | |
16 | g.51141076A>T | CA395889338 | SALL1 | c.1146T>A (p.Ser382Arg) c.855T>A (p.Ser285Arg) c.77-3524T>A (n.77-3524T>A) | |
16 | g.51141076_51141077insTA | CA2695223384 | SALL1 | c.1146_1147insAT (p.Leu383IlefsTer3) c.855_856insAT (p.Leu286IlefsTer3) c.77-3524_77-3523insAT (n.77-3524_77-3523insAT) | |
16 | g.51141077C>A | CA395889340 | SALL1 | c.1145G>T (p.Ser382Ile) c.854G>T (p.Ser285Ile) c.77-3525G>T (n.77-3525G>T) | |
16 | g.51141077C>G | CA395889343 | SALL1 | c.1145G>C (p.Ser382Thr) c.854G>C (p.Ser285Thr) c.77-3525G>C (n.77-3525G>C) | |
16 | g.51141077C>T | CA395889346 | SALL1 | c.1145G>A (p.Ser382Asn) c.854G>A (p.Ser285Asn) c.77-3525G>A (n.77-3525G>A) | |
16 | g.51141078T>A | CA395889350 | SALL1 | c.1144A>T (p.Ser382Cys) c.853A>T (p.Ser285Cys) c.77-3526A>T (n.77-3526A>T) | |
16 | g.51141078T>C | CA241494 | SALL1 | c.1144A>G (p.Ser382Gly) c.853A>G (p.Ser285Gly) c.77-3526A>G (n.77-3526A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.51141078T>G | CA395889352 | SALL1 | c.1144A>C (p.Ser382Arg) c.853A>C (p.Ser285Arg) c.77-3526A>C (n.77-3526A>C) | |
16 | g.51141078T= | CA2222021331 | SALL1 | c.1144A= (p.Ser382=) c.853A= (p.Ser285=) c.77-3526A= (n.77-3526A=) | |
16 | g.51141079G>A | CA8053332 | SALL1 | c.1143C>T (p.Ser381=) c.852C>T (p.Ser284=) c.77-3527C>T (n.77-3527C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141079G>C | CA395889357 | SALL1 | c.1143C>G (p.Ser381Arg) c.852C>G (p.Ser284Arg) c.77-3527C>G (n.77-3527C>G) | dbSNP gnomAD v3 gnomAD v4 |