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.51141055A>C | CA395889256 | SALL1 | c.1167T>G (p.Asn389Lys) c.876T>G (p.Asn292Lys) c.77-3503T>G (n.77-3503T>G) | |
16 | g.51141055A>G | CA495781288 | SALL1 | c.1167T>C (p.Asn389=) c.876T>C (p.Asn292=) c.77-3503T>C (n.77-3503T>C) | |
16 | g.51141055A>T | CA395889257 | SALL1 | c.1167T>A (p.Asn389Lys) c.876T>A (p.Asn292Lys) c.77-3503T>A (n.77-3503T>A) | gnomAD v4 |
16 | g.51141056T>A | CA395889258 | SALL1 | c.1166A>T (p.Asn389Ile) c.875A>T (p.Asn292Ile) c.77-3504A>T (n.77-3504A>T) | |
16 | g.51141056T>C | CA395889259 | SALL1 | c.1166A>G (p.Asn389Ser) c.875A>G (p.Asn292Ser) c.77-3504A>G (n.77-3504A>G) | |
16 | g.51141056T>G | CA395889260 | SALL1 | c.1166A>C (p.Asn389Thr) c.875A>C (p.Asn292Thr) c.77-3504A>C (n.77-3504A>C) | |
16 | g.51141057T>A | CA395889262 | SALL1 | c.1165A>T (p.Asn389Tyr) c.874A>T (p.Asn292Tyr) c.77-3505A>T (n.77-3505A>T) | |
16 | g.51141057T>C | CA8053326 | SALL1 | c.1165A>G (p.Asn389Asp) c.874A>G (p.Asn292Asp) c.77-3505A>G (n.77-3505A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141057T>G | CA395889261 | SALL1 | c.1165A>C (p.Asn389His) c.874A>C (p.Asn292His) c.77-3505A>C (n.77-3505A>C) | |
16 | g.51141057T= | CA2222021289 | SALL1 | c.1165A= (p.Asn389=) c.874A= (p.Asn292=) c.77-3505A= (n.77-3505A=) | |
16 | g.51141058A>C | CA495781291 | SALL1 | c.1164T>G (p.Ser388=) c.873T>G (p.Ser291=) c.77-3506T>G (n.77-3506T>G) | |
16 | g.51141058A>G | CA495781293 | SALL1 | c.1164T>C (p.Ser388=) c.873T>C (p.Ser291=) c.77-3506T>C (n.77-3506T>C) | |
16 | g.51141058A>T | CA495781294 | SALL1 | c.1164T>A (p.Ser388=) c.873T>A (p.Ser291=) c.77-3506T>A (n.77-3506T>A) | |
16 | g.51141059G>A | CA395889263 | SALL1 | c.1163C>T (p.Ser388Phe) c.872C>T (p.Ser291Phe) c.77-3507C>T (n.77-3507C>T) | gnomAD v4 |
16 | g.51141059G>C | CA395889264 | SALL1 | c.1163C>G (p.Ser388Cys) c.872C>G (p.Ser291Cys) c.77-3507C>G (n.77-3507C>G) | COSMIC |
16 | g.51141059G>T | CA395889265 | SALL1 | c.1163C>A (p.Ser388Tyr) c.872C>A (p.Ser291Tyr) c.77-3507C>A (n.77-3507C>A) | |
16 | g.51141060A>C | CA395889266 | SALL1 | c.1162T>G (p.Ser388Ala) c.871T>G (p.Ser291Ala) c.77-3508T>G (n.77-3508T>G) | |
16 | g.51141060A>G | CA395889267 | SALL1 | c.1162T>C (p.Ser388Pro) c.871T>C (p.Ser291Pro) c.77-3508T>C (n.77-3508T>C) | |
16 | g.51141060A>T | CA395889268 | SALL1 | c.1162T>A (p.Ser388Thr) c.871T>A (p.Ser291Thr) c.77-3508T>A (n.77-3508T>A) | |
16 | g.51141060_51141061del | CA2575992065 | SALL1 | c.1161_1162del (p.Ser388Ter) c.870_871del (p.Ser291Ter) c.77-3509_77-3508del (n.77-3509_77-3508del) | |
16 | g.51141061C>A | CA8053327 | SALL1 | c.1161G>T (p.Ala387=) c.870G>T (p.Ala290=) c.77-3509G>T (n.77-3509G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51141061C= | CA2222021294 | SALL1 | c.1161G= (p.Ala387=) c.870G= (p.Ala290=) c.77-3509G= (n.77-3509G=) | |
16 | g.51141061C>G | CA495781299 | SALL1 | c.1161G>C (p.Ala387=) c.870G>C (p.Ala290=) c.77-3509G>C (n.77-3509G>C) | gnomAD v4 |
16 | g.51141061C>T | CA8053328 | SALL1 | c.1161G>A (p.Ala387=) c.870G>A (p.Ala290=) c.77-3509G>A (n.77-3509G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141062G>A | CA8053329 | SALL1 | c.1160C>T (p.Ala387Val) c.869C>T (p.Ala290Val) c.77-3510C>T (n.77-3510C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141062G>C | CA8053330 | SALL1 | c.1160C>G (p.Ala387Gly) c.869C>G (p.Ala290Gly) c.77-3510C>G (n.77-3510C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51141062G= | CA2222021298 | SALL1 | c.1160C= (p.Ala387=) c.869C= (p.Ala290=) c.77-3510C= (n.77-3510C=) | |
16 | g.51141062G>T | CA395889269 | SALL1 | c.1160C>A (p.Ala387Glu) c.869C>A (p.Ala290Glu) c.77-3510C>A (n.77-3510C>A) | |
16 | g.51141063C>A | CA395889270 | SALL1 | c.1159G>T (p.Ala387Ser) c.868G>T (p.Ala290Ser) c.77-3511G>T (n.77-3511G>T) | |
16 | g.51141063C>G | CA395889271 | SALL1 | c.1159G>C (p.Ala387Pro) c.868G>C (p.Ala290Pro) c.77-3511G>C (n.77-3511G>C) | |
16 | g.51141063C>T | CA395889272 | SALL1 | c.1159G>A (p.Ala387Thr) c.868G>A (p.Ala290Thr) c.77-3511G>A (n.77-3511G>A) | gnomAD v4 |
16 | g.51141064A= | CA2222021305 | SALL1 | c.1158T= (p.Pro386=) c.867T= (p.Pro289=) c.77-3512T= (n.77-3512T=) | |
16 | g.51141064A>C | CA495781305 | SALL1 | c.1158T>G (p.Pro386=) c.867T>G (p.Pro289=) c.77-3512T>G (n.77-3512T>G) | |
16 | g.51141064A>G | CA495781303 | SALL1 | c.1158T>C (p.Pro386=) c.867T>C (p.Pro289=) c.77-3512T>C (n.77-3512T>C) | gnomAD v4 |
16 | g.51141064A>T | CA495781304 | SALL1 | c.1158T>A (p.Pro386=) c.867T>A (p.Pro289=) c.77-3512T>A (n.77-3512T>A) | dbSNP gnomAD v4 |
16 | g.51141065G>A | CA395889277 | SALL1 | c.1157C>T (p.Pro386Leu) c.866C>T (p.Pro289Leu) c.77-3513C>T (n.77-3513C>T) | |
16 | g.51141065G>C | CA395889276 | SALL1 | c.1157C>G (p.Pro386Arg) c.866C>G (p.Pro289Arg) c.77-3513C>G (n.77-3513C>G) | |
16 | g.51141065G>T | CA395889274 | SALL1 | c.1157C>A (p.Pro386His) c.866C>A (p.Pro289His) c.77-3513C>A (n.77-3513C>A) | |
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 |
16 | g.51141079G= | CA2222021337 | SALL1 | c.1143C= (p.Ser381=) c.852C= (p.Ser284=) c.77-3527C= (n.77-3527C=) | |
16 | g.51141079G>T | CA395889359 | SALL1 | c.1143C>A (p.Ser381Arg) c.852C>A (p.Ser284Arg) c.77-3527C>A (n.77-3527C>A) | |
16 | g.51141080C>A | CA395889361 | SALL1 | c.1142G>T (p.Ser381Ile) c.851G>T (p.Ser284Ile) c.77-3528G>T (n.77-3528G>T) | |
16 | g.51141080C= | CA2222021341 | SALL1 | c.1142G= (p.Ser381=) c.851G= (p.Ser284=) c.77-3528G= (n.77-3528G=) | |
16 | g.51141080C>G | CA395889365 | SALL1 | c.1142G>C (p.Ser381Thr) c.851G>C (p.Ser284Thr) c.77-3528G>C (n.77-3528G>C) | |
16 | g.51141080C>T | CA395889362 | SALL1 | c.1142G>A (p.Ser381Asn) c.851G>A (p.Ser284Asn) c.77-3528G>A (n.77-3528G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51141081T>A | CA395889368 | SALL1 | c.1141A>T (p.Ser381Cys) c.850A>T (p.Ser284Cys) c.77-3529A>T (n.77-3529A>T) | |
16 | g.51141081T>C | CA395889375 | SALL1 | c.1141A>G (p.Ser381Gly) c.850A>G (p.Ser284Gly) c.77-3529A>G (n.77-3529A>G) | |
16 | g.51141081T>G | CA395889376 | SALL1 | c.1141A>C (p.Ser381Arg) c.850A>C (p.Ser284Arg) c.77-3529A>C (n.77-3529A>C) | |
16 | g.51141082T>A | CA495781328 | SALL1 | c.1140A>T (p.Ile380=) c.849A>T (p.Ile283=) c.77-3530A>T (n.77-3530A>T) | |
16 | g.51141082T>C | CA395889377 | SALL1 | c.1140A>G (p.Ile380Met) c.849A>G (p.Ile283Met) c.77-3530A>G (n.77-3530A>G) | |
16 | g.51141082T>G | CA495781330 | SALL1 | c.1140A>C (p.Ile380=) c.849A>C (p.Ile283=) c.77-3530A>C (n.77-3530A>C) | |
16 | g.51141083A>C | CA395889378 | SALL1 | c.1139T>G (p.Ile380Arg) c.848T>G (p.Ile283Arg) c.77-3531T>G (n.77-3531T>G) | |
16 | g.51141083A>G | CA395889380 | SALL1 | c.1139T>C (p.Ile380Thr) c.848T>C (p.Ile283Thr) c.77-3531T>C (n.77-3531T>C) | |
16 | g.51141083A>T | CA395889383 | SALL1 | c.1139T>A (p.Ile380Lys) c.848T>A (p.Ile283Lys) c.77-3531T>A (n.77-3531T>A) | |
16 | g.51141084T>A | CA395889385 | SALL1 | c.1138A>T (p.Ile380Leu) c.847A>T (p.Ile283Leu) c.77-3532A>T (n.77-3532A>T) | |
16 | g.51141084T>C | CA395889386 | SALL1 | c.1138A>G (p.Ile380Val) c.847A>G (p.Ile283Val) c.77-3532A>G (n.77-3532A>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51141084T>G | CA395889389 | SALL1 | c.1138A>C (p.Ile380Leu) c.847A>C (p.Ile283Leu) c.77-3532A>C (n.77-3532A>C) | |
16 | g.51141084T= | CA2222021346 | SALL1 | c.1138A= (p.Ile380=) c.847A= (p.Ile283=) c.77-3532A= (n.77-3532A=) | |
16 | g.51141085T>A | CA495781336 | SALL1 | c.1137A>T (p.Ala379=) c.846A>T (p.Ala282=) c.77-3533A>T (n.77-3533A>T) | |
16 | g.51141085T>C | CA495781334 | SALL1 | c.1137A>G (p.Ala379=) c.846A>G (p.Ala282=) c.77-3533A>G (n.77-3533A>G) | |
16 | g.51141085T>G | CA495781335 | SALL1 | c.1137A>C (p.Ala379=) c.846A>C (p.Ala282=) c.77-3533A>C (n.77-3533A>C) | |
16 | g.51141086G>A | CA395889396 | SALL1 | c.1136C>T (p.Ala379Val) c.845C>T (p.Ala282Val) c.77-3534C>T (n.77-3534C>T) | |
16 | g.51141086G>C | CA395889395 | SALL1 | c.1136C>G (p.Ala379Gly) c.845C>G (p.Ala282Gly) c.77-3534C>G (n.77-3534C>G) | |
16 | g.51141086G>T | CA395889392 | SALL1 | c.1136C>A (p.Ala379Glu) c.845C>A (p.Ala282Glu) c.77-3534C>A (n.77-3534C>A) | |
16 | g.51141087C>A | CA395889410 | SALL1 | c.1135G>T (p.Ala379Ser) c.844G>T (p.Ala282Ser) c.77-3535G>T (n.77-3535G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141087C= | CA2222021353 | SALL1 | c.1135G= (p.Ala379=) c.844G= (p.Ala282=) c.77-3535G= (n.77-3535G=) | |
16 | g.51141087C>G | CA395889399 | SALL1 | c.1135G>C (p.Ala379Pro) c.844G>C (p.Ala282Pro) c.77-3535G>C (n.77-3535G>C) | |
16 | g.51141087C>T | CA395889408 | SALL1 | c.1135G>A (p.Ala379Thr) c.844G>A (p.Ala282Thr) c.77-3535G>A (n.77-3535G>A) | dbSNP |
16 | g.51141088A>C | CA395889412 | SALL1 | c.1134T>G (p.Phe378Leu) c.843T>G (p.Phe281Leu) c.77-3536T>G (n.77-3536T>G) | |
16 | g.51141088A>G | CA495781339 | SALL1 | c.1134T>C (p.Phe378=) c.843T>C (p.Phe281=) c.77-3536T>C (n.77-3536T>C) | |
16 | g.51141088A>T | CA395889414 | SALL1 | c.1134T>A (p.Phe378Leu) c.843T>A (p.Phe281Leu) c.77-3536T>A (n.77-3536T>A) | |
16 | g.51141091del | CA2695223385 | SALL1 | c.1134del (p.Phe378LeufsTer3) c.843del (p.Phe281LeufsTer3) c.77-3536del (n.77-3536del) | |
16 | g.51141089A= | CA2222021357 | SALL1 | c.1133T= (p.Phe378=) c.842T= (p.Phe281=) c.77-3537T= (n.77-3537T=) | |
16 | g.51141089A>C | CA395889415 | SALL1 | c.1133T>G (p.Phe378Cys) c.842T>G (p.Phe281Cys) c.77-3537T>G (n.77-3537T>G) | |
16 | g.51141089A>G | CA8053333 | SALL1 | c.1133T>C (p.Phe378Ser) c.842T>C (p.Phe281Ser) c.77-3537T>C (n.77-3537T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141089A>T | CA395889416 | SALL1 | c.1133T>A (p.Phe378Tyr) c.842T>A (p.Phe281Tyr) c.77-3537T>A (n.77-3537T>A) | |
16 | g.51141090A>C | CA395889418 | SALL1 | c.1132T>G (p.Phe378Val) c.841T>G (p.Phe281Val) c.77-3538T>G (n.77-3538T>G) | |
16 | g.51141090A>G | CA395889419 | SALL1 | c.1132T>C (p.Phe378Leu) c.841T>C (p.Phe281Leu) c.77-3538T>C (n.77-3538T>C) | |
16 | g.51141090A>T | CA395889422 | SALL1 | c.1132T>A (p.Phe378Ile) c.841T>A (p.Phe281Ile) c.77-3538T>A (n.77-3538T>A) | |
16 | g.51141091A>C | CA495781343 | SALL1 | c.1131T>G (p.Ala377=) c.840T>G (p.Ala280=) c.77-3539T>G (n.77-3539T>G) | |
16 | g.51141091A>G | CA495781345 | SALL1 | c.1131T>C (p.Ala377=) c.840T>C (p.Ala280=) c.77-3539T>C (n.77-3539T>C) | |
16 | g.51141091A>T | CA495781344 | SALL1 | c.1131T>A (p.Ala377=) c.840T>A (p.Ala280=) c.77-3539T>A (n.77-3539T>A) | |
16 | g.51141092G>A | CA395889424 | SALL1 | c.1130C>T (p.Ala377Val) c.839C>T (p.Ala280Val) c.77-3540C>T (n.77-3540C>T) | |
16 | g.51141092G>C | CA395889425 | SALL1 | c.1130C>G (p.Ala377Gly) c.839C>G (p.Ala280Gly) c.77-3540C>G (n.77-3540C>G) | gnomAD v4 COSMIC |
16 | g.51141092G>T | CA395889428 | SALL1 | c.1130C>A (p.Ala377Asp) c.839C>A (p.Ala280Asp) c.77-3540C>A (n.77-3540C>A) | |
16 | g.51141093C>A | CA395889435 | SALL1 | c.1129G>T (p.Ala377Ser) c.838G>T (p.Ala280Ser) c.77-3541G>T (n.77-3541G>T) | |
16 | g.51141093C>G | CA395889431 | SALL1 | c.1129G>C (p.Ala377Pro) c.838G>C (p.Ala280Pro) c.77-3541G>C (n.77-3541G>C) | |
16 | g.51141093C>T | CA395889433 | SALL1 | c.1129G>A (p.Ala377Thr) c.838G>A (p.Ala280Thr) c.77-3541G>A (n.77-3541G>A) | |
16 | g.51141094T>A | CA495781348 | SALL1 | c.1128A>T (p.Pro376=) c.837A>T (p.Pro279=) c.77-3542A>T (n.77-3542A>T) | |
16 | g.51141094T>C | CA495781349 | SALL1 | c.1128A>G (p.Pro376=) c.837A>G (p.Pro279=) c.77-3542A>G (n.77-3542A>G) | |
16 | g.51141094T>G | CA495781350 | SALL1 | c.1128A>C (p.Pro376=) c.837A>C (p.Pro279=) c.77-3542A>C (n.77-3542A>C) | |
16 | g.51141095G>A | CA395889438 | SALL1 | c.1127C>T (p.Pro376Leu) c.836C>T (p.Pro279Leu) c.77-3543C>T (n.77-3543C>T) | gnomAD v4 |
16 | g.51141095G>C | CA395889446 | SALL1 | c.1127C>G (p.Pro376Arg) c.836C>G (p.Pro279Arg) c.77-3543C>G (n.77-3543C>G) | |
16 | g.51141095G= | CA2222021360 | SALL1 | c.1127C= (p.Pro376=) c.836C= (p.Pro279=) c.77-3543C= (n.77-3543C=) | |
16 | g.51141095G>T | CA395889447 | SALL1 | c.1127C>A (p.Pro376Gln) c.836C>A (p.Pro279Gln) c.77-3543C>A (n.77-3543C>A) | dbSNP |
16 | g.51141096G>A | CA395889449 | SALL1 | c.1126C>T (p.Pro376Ser) c.835C>T (p.Pro279Ser) c.77-3544C>T (n.77-3544C>T) | |
16 | g.51141096G>C | CA8053334 | SALL1 | c.1126C>G (p.Pro376Ala) c.835C>G (p.Pro279Ala) c.77-3544C>G (n.77-3544C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141096G= | CA2222021365 | SALL1 | c.1126C= (p.Pro376=) c.835C= (p.Pro279=) c.77-3544C= (n.77-3544C=) | |
16 | g.51141096G>T | CA395889456 | SALL1 | c.1126C>A (p.Pro376Thr) c.835C>A (p.Pro279Thr) c.77-3544C>A (n.77-3544C>A) | |
16 | g.51141097T>A | CA495781352 | SALL1 | c.1125A>T (p.Ser375=) c.834A>T (p.Ser278=) c.77-3545A>T (n.77-3545A>T) | |
16 | g.51141097T>C | CA495781353 | SALL1 | c.1125A>G (p.Ser375=) c.834A>G (p.Ser278=) c.77-3545A>G (n.77-3545A>G) | |
16 | g.51141097T>G | CA495781354 | SALL1 | c.1125A>C (p.Ser375=) c.834A>C (p.Ser278=) c.77-3545A>C (n.77-3545A>C) | gnomAD v4 |
16 | g.51141098del | CA2695223387 | SALL1 | c.1124del (p.Ser375TyrfsTer6) c.833del (p.Ser278TyrfsTer6) c.77-3546del (n.77-3546del) | |
16 | g.51141098G>A | CA395889458 | SALL1 | c.1124C>T (p.Ser375Leu) c.833C>T (p.Ser278Leu) c.77-3546C>T (n.77-3546C>T) | gnomAD v4 |
16 | g.51141098G>C | CA395889459 | SALL1 | c.1124C>G (p.Ser375Ter) c.833C>G (p.Ser278Ter) c.77-3546C>G (n.77-3546C>G) | |
16 | g.51141098G>T | CA395889460 | SALL1 | c.1124C>A (p.Ser375Ter) c.833C>A (p.Ser278Ter) c.77-3546C>A (n.77-3546C>A) | |
16 | g.51141099A>C | CA395889461 | SALL1 | c.1123T>G (p.Ser375Ala) c.832T>G (p.Ser278Ala) c.77-3547T>G (n.77-3547T>G) | |
16 | g.51141099A>G | CA395889462 | SALL1 | c.1123T>C (p.Ser375Pro) c.832T>C (p.Ser278Pro) c.77-3547T>C (n.77-3547T>C) | |
16 | g.51141099A>T | CA395889463 | SALL1 | c.1123T>A (p.Ser375Thr) c.832T>A (p.Ser278Thr) c.77-3547T>A (n.77-3547T>A) | |
16 | g.51141100G>A | CA495781360 | SALL1 | c.1122C>T (p.Ser374=) c.831C>T (p.Ser277=) c.77-3548C>T (n.77-3548C>T) | |
16 | g.51141100G>C | CA495781361 | SALL1 | c.1122C>G (p.Ser374=) c.831C>G (p.Ser277=) c.77-3548C>G (n.77-3548C>G) | |
16 | g.51141100G>T | CA495781359 | SALL1 | c.1122C>A (p.Ser374=) c.831C>A (p.Ser277=) c.77-3548C>A (n.77-3548C>A) | |
16 | g.51141101G>A | CA395889466 | SALL1 | c.1121C>T (p.Ser374Phe) c.830C>T (p.Ser277Phe) c.77-3549C>T (n.77-3549C>T) | |
16 | g.51141101G>C | CA395889467 | SALL1 | c.1121C>G (p.Ser374Cys) c.830C>G (p.Ser277Cys) c.77-3549C>G (n.77-3549C>G) | gnomAD v4 |
16 | g.51141101G>T | CA395889465 | SALL1 | c.1121C>A (p.Ser374Tyr) c.830C>A (p.Ser277Tyr) c.77-3549C>A (n.77-3549C>A) | gnomAD v4 |
16 | g.51141102A>C | CA395889469 | SALL1 | c.1120T>G (p.Ser374Ala) c.829T>G (p.Ser277Ala) c.77-3550T>G (n.77-3550T>G) | |
16 | g.51141102A>G | CA395889472 | SALL1 | c.1120T>C (p.Ser374Pro) c.829T>C (p.Ser277Pro) c.77-3550T>C (n.77-3550T>C) | |
16 | g.51141102A>T | CA395889471 | SALL1 | c.1120T>A (p.Ser374Thr) c.829T>A (p.Ser277Thr) c.77-3550T>A (n.77-3550T>A) | |
16 | g.51141103C>A | CA495781368 | SALL1 | c.1119G>T (p.Ser373=) c.828G>T (p.Ser276=) c.77-3551G>T (n.77-3551G>T) | |
16 | g.51141103C= | CA2222021408 | SALL1 | c.1119G= (p.Ser373=) c.828G= (p.Ser276=) c.77-3551G= (n.77-3551G=) | |
16 | g.51141103C>G | CA495781363 | SALL1 | c.1119G>C (p.Ser373=) c.828G>C (p.Ser276=) c.77-3551G>C (n.77-3551G>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51141103C>T | CA8053336 | SALL1 | c.1119G>A (p.Ser373=) c.828G>A (p.Ser276=) c.77-3551G>A (n.77-3551G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141103_51141106delinsCGAT | CA2222021412 | SALL1 | c.1116_1119delinsATCG (p.Ser372=) c.825_828delinsATCG (p.Ser275=) c.77-3554_77-3551delinsATCG (n.77-3554_77-3551delinsATCG) | |
16 | g.51141104G>A | CA8053337 | SALL1 | c.1118C>T (p.Ser373Leu) c.827C>T (p.Ser276Leu) c.77-3552C>T (n.77-3552C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.51141104G>C | CA395889478 | SALL1 | c.1118C>G (p.Ser373Trp) c.827C>G (p.Ser276Trp) c.77-3552C>G (n.77-3552C>G) | dbSNP |
16 | g.51141104G= | CA2222021416 | SALL1 | c.1118C= (p.Ser373=) c.827C= (p.Ser276=) c.77-3552C= (n.77-3552C=) | |
16 | g.51141104G>T | CA395889481 | SALL1 | c.1118C>A (p.Ser373Ter) c.827C>A (p.Ser276Ter) c.77-3552C>A (n.77-3552C>A) | |
16 | g.51141109_51141111del | CA8053335 | SALL1 | c.1116_1118del (p.Ser373del) c.825_827del (p.Ser276del) c.77-3554_77-3552del (n.77-3554_77-3552del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141105A>C | CA395889484 | SALL1 | c.1117T>G (p.Ser373Ala) c.826T>G (p.Ser276Ala) c.77-3553T>G (n.77-3553T>G) | |
16 | g.51141105A>G | CA395889486 | SALL1 | c.1117T>C (p.Ser373Pro) c.826T>C (p.Ser276Pro) c.77-3553T>C (n.77-3553T>C) | |
16 | g.51141105A>T | CA395889488 | SALL1 | c.1117T>A (p.Ser373Thr) c.826T>A (p.Ser276Thr) c.77-3553T>A (n.77-3553T>A) | COSMIC |
16 | g.51141106T>A | CA495781372 | SALL1 | c.1116A>T (p.Ser372=) c.825A>T (p.Ser275=) c.77-3554A>T (n.77-3554A>T) | |
16 | g.51141106T>C | CA495781373 | SALL1 | c.1116A>G (p.Ser372=) c.825A>G (p.Ser275=) c.77-3554A>G (n.77-3554A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141106T>G | CA495781374 | SALL1 | c.1116A>C (p.Ser372=) c.825A>C (p.Ser275=) c.77-3554A>C (n.77-3554A>C) | |
16 | g.51141106T= | CA2222021419 | SALL1 | c.1116A= (p.Ser372=) c.825A= (p.Ser275=) c.77-3554A= (n.77-3554A=) | |
16 | g.51141107G>A | CA395889491 | SALL1 | c.1115C>T (p.Ser372Leu) c.824C>T (p.Ser275Leu) c.77-3555C>T (n.77-3555C>T) | |
16 | g.51141107G>C | CA254172 | SALL1 | c.1115C>G (p.Ser372Ter) c.824C>G (p.Ser275Ter) c.77-3555C>G (n.77-3555C>G) | ClinVar dbSNP |
16 | g.51141107G= | CA2222021433 | SALL1 | c.1115C= (p.Ser372=) c.824C= (p.Ser275=) c.77-3555C= (n.77-3555C=) | |
16 | g.51141107G>T | CA254169 | SALL1 | c.1115C>A (p.Ser372Ter) c.824C>A (p.Ser275Ter) c.77-3555C>A (n.77-3555C>A) | ClinVar dbSNP |
16 | g.51141108A>C | CA395889501 | SALL1 | c.1114T>G (p.Ser372Ala) c.823T>G (p.Ser275Ala) c.77-3556T>G (n.77-3556T>G) | |
16 | g.51141108A>G | CA395889499 | SALL1 | c.1114T>C (p.Ser372Pro) c.823T>C (p.Ser275Pro) c.77-3556T>C (n.77-3556T>C) | |
16 | g.51141108A>T | CA395889497 | SALL1 | c.1114T>A (p.Ser372Thr) c.823T>A (p.Ser275Thr) c.77-3556T>A (n.77-3556T>A) | gnomAD v4 |
16 | g.51141109T>A | CA495781378 | SALL1 | c.1113A>T (p.Ser371=) c.822A>T (p.Ser274=) c.77-3557A>T (n.77-3557A>T) | |
16 | g.51141109T>C | CA495781380 | SALL1 | c.1113A>G (p.Ser371=) c.822A>G (p.Ser274=) c.77-3557A>G (n.77-3557A>G) | gnomAD v4 |
16 | g.51141109T>G | CA495781381 | SALL1 | c.1113A>C (p.Ser371=) c.822A>C (p.Ser274=) c.77-3557A>C (n.77-3557A>C) | gnomAD v4 |
16 | g.51141110G>A | CA8053338 | SALL1 | c.1112C>T (p.Ser371Leu) c.821C>T (p.Ser274Leu) c.77-3558C>T (n.77-3558C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51141110G>C | CA395889508 | SALL1 | c.1112C>G (p.Ser371Ter) c.821C>G (p.Ser274Ter) c.77-3558C>G (n.77-3558C>G) | ClinVar |
16 | g.51141110G= | CA2222021441 | SALL1 | c.1112C= (p.Ser371=) c.821C= (p.Ser274=) c.77-3558C= (n.77-3558C=) | |
16 | g.51141110G>T | CA395889510 | SALL1 | c.1112C>A (p.Ser371Ter) c.821C>A (p.Ser274Ter) c.77-3558C>A (n.77-3558C>A) | |
16 | g.51141111A>C | CA395889512 | SALL1 | c.1111T>G (p.Ser371Ala) c.820T>G (p.Ser274Ala) c.77-3559T>G (n.77-3559T>G) | |
16 | g.51141111A>G | CA395889513 | SALL1 | c.1111T>C (p.Ser371Pro) c.820T>C (p.Ser274Pro) c.77-3559T>C (n.77-3559T>C) | |
16 | g.51141111A>T | CA395889516 | SALL1 | c.1111T>A (p.Ser371Thr) c.820T>A (p.Ser274Thr) c.77-3559T>A (n.77-3559T>A) | |
16 | g.51141112G>A | CA495781385 | SALL1 | c.1110C>T (p.Val370=) c.819C>T (p.Val273=) c.77-3560C>T (n.77-3560C>T) | |
16 | g.51141112G>C | CA495781386 | SALL1 | c.1110C>G (p.Val370=) c.819C>G (p.Val273=) c.77-3560C>G (n.77-3560C>G) | gnomAD v4 |
16 | g.51141112G>T | CA495781387 | SALL1 | c.1110C>A (p.Val370=) c.819C>A (p.Val273=) c.77-3560C>A (n.77-3560C>A) | |
16 | g.51141112_51141114delinsGAC | CA2222021452 | SALL1 | c.1108_1110delinsGTC (p.Val370=) c.817_819delinsGTC (p.Val273=) c.77-3562_77-3560delinsGTC (n.77-3562_77-3560delinsGTC) | |
16 | g.51141113A>C | CA395889518 | SALL1 | c.1109T>G (p.Val370Gly) c.818T>G (p.Val273Gly) c.77-3561T>G (n.77-3561T>G) | |
16 | g.51141113A>G | CA395889520 | SALL1 | c.1109T>C (p.Val370Ala) c.818T>C (p.Val273Ala) c.77-3561T>C (n.77-3561T>C) | |
16 | g.51141113A>T | CA395889522 | SALL1 | c.1109T>A (p.Val370Asp) c.818T>A (p.Val273Asp) c.77-3561T>A (n.77-3561T>A) | |
16 | g.51141113_51141114del | CA645294090 | SALL1 | c.1108_1109del (p.Val370LeufsTer19) c.817_818del (p.Val273LeufsTer19) c.77-3562_77-3561del (n.77-3562_77-3561del) | ClinVar dbSNP |
16 | g.51141114C>A | CA395889524 | SALL1 | c.1108G>T (p.Val370Phe) c.817G>T (p.Val273Phe) c.77-3562G>T (n.77-3562G>T) | |
16 | g.51141114C>G | CA395889526 | SALL1 | c.1108G>C (p.Val370Leu) c.817G>C (p.Val273Leu) c.77-3562G>C (n.77-3562G>C) | |
16 | g.51141114C>T | CA395889528 | SALL1 | c.1108G>A (p.Val370Ile) c.817G>A (p.Val273Ile) c.77-3562G>A (n.77-3562G>A) | COSMIC |
16 | g.51141115C>A | CA495781392 | SALL1 | c.1107G>T (p.Ala369=) c.816G>T (p.Ala272=) c.77-3563G>T (n.77-3563G>T) | |
16 | g.51141115C= | CA2222021459 | SALL1 | c.1107G= (p.Ala369=) c.816G= (p.Ala272=) c.77-3563G= (n.77-3563G=) | |
16 | g.51141115C>G | CA495781393 | SALL1 | c.1107G>C (p.Ala369=) c.816G>C (p.Ala272=) c.77-3563G>C (n.77-3563G>C) | |
16 | g.51141115C>T | CA8053339 | SALL1 | c.1107G>A (p.Ala369=) c.816G>A (p.Ala272=) c.77-3563G>A (n.77-3563G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.51141116G>A | CA8053340 | SALL1 | c.1106C>T (p.Ala369Val) c.815C>T (p.Ala272Val) c.77-3564C>T (n.77-3564C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141116G>C | CA395889533 | SALL1 | c.1106C>G (p.Ala369Gly) c.815C>G (p.Ala272Gly) c.77-3564C>G (n.77-3564C>G) | |
16 | g.51141116G= | CA2222021464 | SALL1 | c.1106C= (p.Ala369=) c.815C= (p.Ala272=) c.77-3564C= (n.77-3564C=) | |
16 | g.51141116G>T | CA395889535 | SALL1 | c.1106C>A (p.Ala369Glu) c.815C>A (p.Ala272Glu) c.77-3564C>A (n.77-3564C>A) | |
16 | g.51141117C>A | CA395889538 | SALL1 | c.1105G>T (p.Ala369Ser) c.814G>T (p.Ala272Ser) c.77-3565G>T (n.77-3565G>T) | |
16 | g.51141117C>G | CA395889540 | SALL1 | c.1105G>C (p.Ala369Pro) c.814G>C (p.Ala272Pro) c.77-3565G>C (n.77-3565G>C) | |
16 | g.51141117C>T | CA395889541 | SALL1 | c.1105G>A (p.Ala369Thr) c.814G>A (p.Ala272Thr) c.77-3565G>A (n.77-3565G>A) | |
16 | g.51141118T>A | CA495781082 | SALL1 | c.1104A>T (p.Pro368=) c.813A>T (p.Pro271=) c.77-3566A>T (n.77-3566A>T) | |
16 | g.51141118T>C | CA495781083 | SALL1 | c.1104A>G (p.Pro368=) c.813A>G (p.Pro271=) c.77-3566A>G (n.77-3566A>G) | |
16 | g.51141118T>G | CA495781085 | SALL1 | c.1104A>C (p.Pro368=) c.813A>C (p.Pro271=) c.77-3566A>C (n.77-3566A>C) | |
16 | g.51141119G>A | CA395889544 | SALL1 | c.1103C>T (p.Pro368Leu) c.812C>T (p.Pro271Leu) c.77-3567C>T (n.77-3567C>T) | gnomAD v4 |
16 | g.51141119G>C | CA395889545 | SALL1 | c.1103C>G (p.Pro368Arg) c.812C>G (p.Pro271Arg) c.77-3567C>G (n.77-3567C>G) | |
16 | g.51141119G>T | CA395889548 | SALL1 | c.1103C>A (p.Pro368Gln) c.812C>A (p.Pro271Gln) c.77-3567C>A (n.77-3567C>A) | |
16 | g.51141120G>A | CA395889549 | SALL1 | c.1102C>T (p.Pro368Ser) c.811C>T (p.Pro271Ser) c.77-3568C>T (n.77-3568C>T) | |
16 | g.51141120G>C | CA395889552 | SALL1 | c.1102C>G (p.Pro368Ala) c.811C>G (p.Pro271Ala) c.77-3568C>G (n.77-3568C>G) | |
16 | g.51141120G= | CA2222021469 | SALL1 | c.1102C= (p.Pro368=) c.811C= (p.Pro271=) c.77-3568C= (n.77-3568C=) | |
16 | g.51141120G>T | CA395889553 | SALL1 | c.1102C>A (p.Pro368Thr) c.811C>A (p.Pro271Thr) c.77-3568C>A (n.77-3568C>A) | dbSNP |
16 | g.51141121G>A | CA495781090 | SALL1 | c.1101C>T (p.Asn367=) c.810C>T (p.Asn270=) c.77-3569C>T (n.77-3569C>T) | |
16 | g.51141121G>C | CA395889555 | SALL1 | c.1101C>G (p.Asn367Lys) c.810C>G (p.Asn270Lys) c.77-3569C>G (n.77-3569C>G) | |
16 | g.51141121G>T | CA395889557 | SALL1 | c.1101C>A (p.Asn367Lys) c.810C>A (p.Asn270Lys) c.77-3569C>A (n.77-3569C>A) | gnomAD v4 |
16 | g.51141122T>A | CA395889564 | SALL1 | c.1100A>T (p.Asn367Ile) c.809A>T (p.Asn270Ile) c.77-3570A>T (n.77-3570A>T) | |
16 | g.51141122T>C | CA395889560 | SALL1 | c.1100A>G (p.Asn367Ser) c.809A>G (p.Asn270Ser) c.77-3570A>G (n.77-3570A>G) | |
16 | g.51141122T>G | CA395889562 | SALL1 | c.1100A>C (p.Asn367Thr) c.809A>C (p.Asn270Thr) c.77-3570A>C (n.77-3570A>C) | |
16 | g.51141123T>A | CA395889567 | SALL1 | c.1099A>T (p.Asn367Tyr) c.808A>T (p.Asn270Tyr) c.77-3571A>T (n.77-3571A>T) | |
16 | g.51141123T>C | CA395889568 | SALL1 | c.1099A>G (p.Asn367Asp) c.808A>G (p.Asn270Asp) c.77-3571A>G (n.77-3571A>G) | |
16 | g.51141123T>G | CA395889570 | SALL1 | c.1099A>C (p.Asn367His) c.808A>C (p.Asn270His) c.77-3571A>C (n.77-3571A>C) | gnomAD v4 |
16 | g.51141124G>A | CA495781092 | SALL1 | c.1098C>T (p.Ser366=) c.807C>T (p.Ser269=) c.77-3572C>T (n.77-3572C>T) | |
16 | g.51141124G>C | CA395889573 | SALL1 | c.1098C>G (p.Ser366Arg) c.807C>G (p.Ser269Arg) c.77-3572C>G (n.77-3572C>G) | |
16 | g.51141124G>T | CA395889576 | SALL1 | c.1098C>A (p.Ser366Arg) c.807C>A (p.Ser269Arg) c.77-3572C>A (n.77-3572C>A) | |
16 | g.51141125C>A | CA395889578 | SALL1 | c.1097G>T (p.Ser366Ile) c.806G>T (p.Ser269Ile) c.77-3573G>T (n.77-3573G>T) | |
16 | g.51141125C>G | CA395889579 | SALL1 | c.1097G>C (p.Ser366Thr) c.806G>C (p.Ser269Thr) c.77-3573G>C (n.77-3573G>C) | |
16 | g.51141125C>T | CA395889580 | SALL1 | c.1097G>A (p.Ser366Asn) c.806G>A (p.Ser269Asn) c.77-3573G>A (n.77-3573G>A) | |
16 | g.51141126T>A | CA395889584 | SALL1 | c.1096A>T (p.Ser366Cys) c.805A>T (p.Ser269Cys) c.77-3574A>T (n.77-3574A>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51141126T>C | CA395889586 | SALL1 | c.1096A>G (p.Ser366Gly) c.805A>G (p.Ser269Gly) c.77-3574A>G (n.77-3574A>G) | |
16 | g.51141126T>G | CA395889588 | SALL1 | c.1096A>C (p.Ser366Arg) c.805A>C (p.Ser269Arg) c.77-3574A>C (n.77-3574A>C) | |
16 | g.51141126T= | CA2222021471 | SALL1 | c.1096A= (p.Ser366=) c.805A= (p.Ser269=) c.77-3574A= (n.77-3574A=) | |
16 | g.51141127G>A | CA495781097 | SALL1 | c.1095C>T (p.Val365=) c.804C>T (p.Val268=) c.77-3575C>T (n.77-3575C>T) | |
16 | g.51141127G>C | CA495781098 | SALL1 | c.1095C>G (p.Val365=) c.804C>G (p.Val268=) c.77-3575C>G (n.77-3575C>G) | |
16 | g.51141127G>T | CA495781099 | SALL1 | c.1095C>A (p.Val365=) c.804C>A (p.Val268=) c.77-3575C>A (n.77-3575C>A) | |
16 | g.51141128A>C | CA395889596 | SALL1 | c.1094T>G (p.Val365Gly) c.803T>G (p.Val268Gly) c.77-3576T>G (n.77-3576T>G) | |
16 | g.51141128A>G | CA395889594 | SALL1 | c.1094T>C (p.Val365Ala) c.803T>C (p.Val268Ala) c.77-3576T>C (n.77-3576T>C) | |
16 | g.51141128A>T | CA395889591 | SALL1 | c.1094T>A (p.Val365Asp) c.803T>A (p.Val268Asp) c.77-3576T>A (n.77-3576T>A) | |
16 | g.51141129C>A | CA395889599 | SALL1 | c.1093G>T (p.Val365Phe) c.802G>T (p.Val268Phe) c.77-3577G>T (n.77-3577G>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51141129C= | CA2222021474 | SALL1 | c.1093G= (p.Val365=) c.802G= (p.Val268=) c.77-3577G= (n.77-3577G=) | |
16 | g.51141129C>G | CA395889605 | SALL1 | c.1093G>C (p.Val365Leu) c.802G>C (p.Val268Leu) c.77-3577G>C (n.77-3577G>C) | |
16 | g.51141129C>T | CA395889602 | SALL1 | c.1093G>A (p.Val365Ile) c.802G>A (p.Val268Ile) c.77-3577G>A (n.77-3577G>A) | gnomAD v4 |
16 | g.51141130A= | CA2222021478 | SALL1 | c.1092T= (p.His364=) c.801T= (p.His267=) c.77-3578T= (n.77-3578T=) | |
16 | g.51141130A>C | CA281302731 | SALL1 | c.1092T>G (p.His364Gln) c.801T>G (p.His267Gln) c.77-3578T>G (n.77-3578T>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51141130A>G | CA495781103 | SALL1 | c.1092T>C (p.His364=) c.801T>C (p.His267=) c.77-3578T>C (n.77-3578T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141130A>T | CA395889606 | SALL1 | c.1092T>A (p.His364Gln) c.801T>A (p.His267Gln) c.77-3578T>A (n.77-3578T>A) | |
16 | g.51141131T>A | CA395889609 | SALL1 | c.1091A>T (p.His364Leu) c.800A>T (p.His267Leu) c.77-3579A>T (n.77-3579A>T) | |
16 | g.51141131T>C | CA395889611 | SALL1 | c.1091A>G (p.His364Arg) c.800A>G (p.His267Arg) c.77-3579A>G (n.77-3579A>G) | gnomAD v4 |
16 | g.51141131T>G | CA395889613 | SALL1 | c.1091A>C (p.His364Pro) c.800A>C (p.His267Pro) c.77-3579A>C (n.77-3579A>C) | gnomAD v4 |
16 | g.51141132G>A | CA395889615 | SALL1 | c.1090C>T (p.His364Tyr) c.799C>T (p.His267Tyr) c.77-3580C>T (n.77-3580C>T) | gnomAD v4 |
16 | g.51141132G>C | CA395889616 | SALL1 | c.1090C>G (p.His364Asp) c.799C>G (p.His267Asp) c.77-3580C>G (n.77-3580C>G) | |
16 | g.51141132G>T | CA395889619 | SALL1 | c.1090C>A (p.His364Asn) c.799C>A (p.His267Asn) c.77-3580C>A (n.77-3580C>A) | |
16 | g.51141133G>A | CA495781107 | SALL1 | c.1089C>T (p.Ser363=) c.798C>T (p.Ser266=) c.77-3581C>T (n.77-3581C>T) | dbSNP |
16 | g.51141133G>C | CA495781108 | SALL1 | c.1089C>G (p.Ser363=) c.798C>G (p.Ser266=) c.77-3581C>G (n.77-3581C>G) | |
16 | g.51141133G= | CA2222021481 | SALL1 | c.1089C= (p.Ser363=) c.798C= (p.Ser266=) c.77-3581C= (n.77-3581C=) | |
16 | g.51141133G>T | CA495781109 | SALL1 | c.1089C>A (p.Ser363=) c.798C>A (p.Ser266=) c.77-3581C>A (n.77-3581C>A) | dbSNP |
16 | g.51141134G>A | CA8053341 | SALL1 | c.1088C>T (p.Ser363Phe) c.797C>T (p.Ser266Phe) c.77-3582C>T (n.77-3582C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51141134G>C | CA395889622 | SALL1 | c.1088C>G (p.Ser363Cys) c.797C>G (p.Ser266Cys) c.77-3582C>G (n.77-3582C>G) | |
16 | g.51141134G= | CA2222021482 | SALL1 | c.1088C= (p.Ser363=) c.797C= (p.Ser266=) c.77-3582C= (n.77-3582C=) | |
16 | g.51141134G>T | CA395889624 | SALL1 | c.1088C>A (p.Ser363Tyr) c.797C>A (p.Ser266Tyr) c.77-3582C>A (n.77-3582C>A) | |
16 | g.51141135A>C | CA395889626 | SALL1 | c.1087T>G (p.Ser363Ala) c.796T>G (p.Ser266Ala) c.77-3583T>G (n.77-3583T>G) | |
16 | g.51141135A>G | CA395889627 | SALL1 | c.1087T>C (p.Ser363Pro) c.796T>C (p.Ser266Pro) c.77-3583T>C (n.77-3583T>C) | |
16 | g.51141135A>T | CA395889630 | SALL1 | c.1087T>A (p.Ser363Thr) c.796T>A (p.Ser266Thr) c.77-3583T>A (n.77-3583T>A) | |
16 | g.51141136G>A | CA8053342 | SALL1 | c.1086C>T (p.Ala362=) c.795C>T (p.Ala265=) c.77-3584C>T (n.77-3584C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141136G>C | CA495781113 | SALL1 | c.1086C>G (p.Ala362=) c.795C>G (p.Ala265=) c.77-3584C>G (n.77-3584C>G) | |
16 | g.51141136G= | CA2222021484 | SALL1 | c.1086C= (p.Ala362=) c.795C= (p.Ala265=) c.77-3584C= (n.77-3584C=) | |
16 | g.51141136G>T | CA495781114 | SALL1 | c.1086C>A (p.Ala362=) c.795C>A (p.Ala265=) c.77-3584C>A (n.77-3584C>A) | |
16 | g.51141137G>A | CA395889632 | SALL1 | c.1085C>T (p.Ala362Val) c.794C>T (p.Ala265Val) c.77-3585C>T (n.77-3585C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.51141137G>C | CA395889636 | SALL1 | c.1085C>G (p.Ala362Gly) c.794C>G (p.Ala265Gly) c.77-3585C>G (n.77-3585C>G) | |
16 | g.51141137G= | CA2222021490 | SALL1 | c.1085C= (p.Ala362=) c.794C= (p.Ala265=) c.77-3585C= (n.77-3585C=) | |
16 | g.51141137G>T | CA8053343 | SALL1 | c.1085C>A (p.Ala362Asp) c.794C>A (p.Ala265Asp) c.77-3585C>A (n.77-3585C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51141137_51141138del | CA2695223391 | SALL1 | c.1084_1085del (p.Ala362LeufsTer27) c.793_794del (p.Ala265LeufsTer27) c.77-3586_77-3585del (n.77-3586_77-3585del) | |
16 | g.51141138C>A | CA395889641 | SALL1 | c.1084G>T (p.Ala362Ser) c.793G>T (p.Ala265Ser) c.77-3586G>T (n.77-3586G>T) | |
16 | g.51141138C>G | CA395889644 | SALL1 | c.1084G>C (p.Ala362Pro) c.793G>C (p.Ala265Pro) c.77-3586G>C (n.77-3586G>C) | |
16 | g.51141138C>T | CA395889645 | SALL1 | c.1084G>A (p.Ala362Thr) c.793G>A (p.Ala265Thr) c.77-3586G>A (n.77-3586G>A) | |
16 | g.51141139C>A | CA495781118 | SALL1 | c.1083G>T (p.Gly361=) c.792G>T (p.Gly264=) c.77-3587G>T (n.77-3587G>T) | |
16 | g.51141139C>G | CA495781120 | SALL1 | c.1083G>C (p.Gly361=) c.792G>C (p.Gly264=) c.77-3587G>C (n.77-3587G>C) | |
16 | g.51141139C>T | CA495781121 | SALL1 | c.1083G>A (p.Gly361=) c.792G>A (p.Gly264=) c.77-3587G>A (n.77-3587G>A) | |
16 | g.51141140C>A | CA395889648 | SALL1 | c.1082G>T (p.Gly361Val) c.791G>T (p.Gly264Val) c.77-3588G>T (n.77-3588G>T) | |
16 | g.51141140C>G | CA395889650 | SALL1 | c.1082G>C (p.Gly361Ala) c.791G>C (p.Gly264Ala) c.77-3588G>C (n.77-3588G>C) | |
16 | g.51141140C>T | CA395889652 | SALL1 | c.1082G>A (p.Gly361Glu) c.791G>A (p.Gly264Glu) c.77-3588G>A (n.77-3588G>A) | |
16 | g.51141141C>A | CA395889654 | SALL1 | c.1081G>T (p.Gly361Trp) c.790G>T (p.Gly264Trp) c.77-3589G>T (n.77-3589G>T) | |
16 | g.51141141C>G | CA395889656 | SALL1 | c.1081G>C (p.Gly361Arg) c.790G>C (p.Gly264Arg) c.77-3589G>C (n.77-3589G>C) | |
16 | g.51141141C>T | CA395889659 | SALL1 | c.1081G>A (p.Gly361Arg) c.790G>A (p.Gly264Arg) c.77-3589G>A (n.77-3589G>A) | |
16 | g.51141142A>C | CA495781127 | SALL1 | c.1080T>G (p.Ala360=) c.789T>G (p.Ala263=) c.77-3590T>G (n.77-3590T>G) | |
16 | g.51141142A>G | CA495781125 | SALL1 | c.1080T>C (p.Ala360=) c.789T>C (p.Ala263=) c.77-3590T>C (n.77-3590T>C) | |
16 | g.51141142A>T | CA495781124 | SALL1 | c.1080T>A (p.Ala360=) c.789T>A (p.Ala263=) c.77-3590T>A (n.77-3590T>A) | |
16 | g.51141143G>A | CA395889666 | SALL1 | c.1079C>T (p.Ala360Val) c.788C>T (p.Ala263Val) c.77-3591C>T (n.77-3591C>T) | gnomAD v4 |
16 | g.51141143G>C | CA395889663 | SALL1 | c.1079C>G (p.Ala360Gly) c.788C>G (p.Ala263Gly) c.77-3591C>G (n.77-3591C>G) | |
16 | g.51141143G>T | CA395889662 | SALL1 | c.1079C>A (p.Ala360Asp) c.788C>A (p.Ala263Asp) c.77-3591C>A (n.77-3591C>A) | |
16 | g.51141144C>A | CA395889668 | SALL1 | c.1078G>T (p.Ala360Ser) c.787G>T (p.Ala263Ser) c.77-3592G>T (n.77-3592G>T) | |
16 | g.51141144C= | CA2222021496 | SALL1 | c.1078G= (p.Ala360=) c.787G= (p.Ala263=) c.77-3592G= (n.77-3592G=) | |
16 | g.51141144C>G | CA395889670 | SALL1 | c.1078G>C (p.Ala360Pro) c.787G>C (p.Ala263Pro) c.77-3592G>C (n.77-3592G>C) | |
16 | g.51141144C>T | CA395889673 | SALL1 | c.1078G>A (p.Ala360Thr) c.787G>A (p.Ala263Thr) c.77-3592G>A (n.77-3592G>A) | dbSNP |
16 | g.51141145A>C | CA395889675 | SALL1 | c.1077T>G (p.Ser359Arg) c.786T>G (p.Ser262Arg) c.77-3593T>G (n.77-3593T>G) | |
16 | g.51141145A>G | CA495781129 | SALL1 | c.1077T>C (p.Ser359=) c.786T>C (p.Ser262=) c.77-3593T>C (n.77-3593T>C) | |
16 | g.51141145A>T | CA395889677 | SALL1 | c.1077T>A (p.Ser359Arg) c.786T>A (p.Ser262Arg) c.77-3593T>A (n.77-3593T>A) | |
16 | g.51141146C>A | CA395889680 | SALL1 | c.1076G>T (p.Ser359Ile) c.785G>T (p.Ser262Ile) c.77-3594G>T (n.77-3594G>T) | |
16 | g.51141146C>G | CA395889681 | SALL1 | c.1076G>C (p.Ser359Thr) c.785G>C (p.Ser262Thr) c.77-3594G>C (n.77-3594G>C) | |
16 | g.51141146C>T | CA395889682 | SALL1 | c.1076G>A (p.Ser359Asn) c.785G>A (p.Ser262Asn) c.77-3594G>A (n.77-3594G>A) | |
16 | g.51141147T>A | CA395889685 | SALL1 | c.1075A>T (p.Ser359Cys) c.784A>T (p.Ser262Cys) c.77-3595A>T (n.77-3595A>T) | |
16 | g.51141147T>C | CA395889686 | SALL1 | c.1075A>G (p.Ser359Gly) c.784A>G (p.Ser262Gly) c.77-3595A>G (n.77-3595A>G) | |
16 | g.51141147T>G | CA395889689 | SALL1 | c.1075A>C (p.Ser359Arg) c.784A>C (p.Ser262Arg) c.77-3595A>C (n.77-3595A>C) | |
16 | g.51141148T>A | CA495781133 | SALL1 | c.1074A>T (p.Ser358=) c.783A>T (p.Ser261=) c.77-3596A>T (n.77-3596A>T) | |
16 | g.51141148T>C | CA495781135 | SALL1 | c.1074A>G (p.Ser358=) c.783A>G (p.Ser261=) c.77-3596A>G (n.77-3596A>G) | gnomAD v4 |
16 | g.51141148T>G | CA495781134 | SALL1 | c.1074A>C (p.Ser358=) c.783A>C (p.Ser261=) c.77-3596A>C (n.77-3596A>C) | gnomAD v4 |
16 | g.51141149G>A | CA395889698 | SALL1 | c.1073C>T (p.Ser358Leu) c.782C>T (p.Ser261Leu) c.77-3597C>T (n.77-3597C>T) | COSMIC |
16 | g.51141149G>C | CA395889695 | SALL1 | c.1073C>G (p.Ser358Ter) c.782C>G (p.Ser261Ter) c.77-3597C>G (n.77-3597C>G) | |
16 | g.51141149G>T | CA395889693 | SALL1 | c.1073C>A (p.Ser358Ter) c.782C>A (p.Ser261Ter) c.77-3597C>A (n.77-3597C>A) | |
16 | g.51141150A>C | CA395889699 | SALL1 | c.1072T>G (p.Ser358Ala) c.781T>G (p.Ser261Ala) c.77-3598T>G (n.77-3598T>G) | |
16 | g.51141150A>G | CA395889701 | SALL1 | c.1072T>C (p.Ser358Pro) c.781T>C (p.Ser261Pro) c.77-3598T>C (n.77-3598T>C) | |
16 | g.51141150A>T | CA395889703 | SALL1 | c.1072T>A (p.Ser358Thr) c.781T>A (p.Ser261Thr) c.77-3598T>A (n.77-3598T>A) | |
16 | g.51141151A>C | CA495781136 | SALL1 | c.1071T>G (p.Ala357=) c.780T>G (p.Ala260=) c.77-3599T>G (n.77-3599T>G) | |
16 | g.51141151A>G | CA495781137 | SALL1 | c.1071T>C (p.Ala357=) c.780T>C (p.Ala260=) c.77-3599T>C (n.77-3599T>C) | |
16 | g.51141151A>T | CA495781138 | SALL1 | c.1071T>A (p.Ala357=) c.780T>A (p.Ala260=) c.77-3599T>A (n.77-3599T>A) | |
16 | g.51141152G>A | CA395889705 | SALL1 | c.1070C>T (p.Ala357Val) c.779C>T (p.Ala260Val) c.77-3600C>T (n.77-3600C>T) | |
16 | g.51141152G>C | CA395889707 | SALL1 | c.1070C>G (p.Ala357Gly) c.779C>G (p.Ala260Gly) c.77-3600C>G (n.77-3600C>G) | |
16 | g.51141152G>T | CA395889709 | SALL1 | c.1070C>A (p.Ala357Asp) c.779C>A (p.Ala260Asp) c.77-3600C>A (n.77-3600C>A) | |
16 | g.51141153C>A | CA395889712 | SALL1 | c.1069G>T (p.Ala357Ser) c.778G>T (p.Ala260Ser) c.77-3601G>T (n.77-3601G>T) | |
16 | g.51141153C>G | CA395889715 | SALL1 | c.1069G>C (p.Ala357Pro) c.778G>C (p.Ala260Pro) c.77-3601G>C (n.77-3601G>C) | gnomAD v4 |
16 | g.51141153C>T | CA395889716 | SALL1 | c.1069G>A (p.Ala357Thr) c.778G>A (p.Ala260Thr) c.77-3601G>A (n.77-3601G>A) | ClinVar dbSNP |
16 | g.51141154C>A | CA495781142 | SALL1 | c.1068G>T (p.Val356=) c.777G>T (p.Val259=) c.77-3602G>T (n.77-3602G>T) | |
16 | g.51141154C>G | CA495781141 | SALL1 | c.1068G>C (p.Val356=) c.777G>C (p.Val259=) c.77-3602G>C (n.77-3602G>C) | |
16 | g.51141154C>T | CA495781144 | SALL1 | c.1068G>A (p.Val356=) c.777G>A (p.Val259=) c.77-3602G>A (n.77-3602G>A) | |
16 | g.51141155A= | CA2222021500 | SALL1 | c.1067T= (p.Val356=) c.776T= (p.Val259=) c.77-3603T= (n.77-3603T=) | |
16 | g.51141155A>C | CA395889718 | SALL1 | c.1067T>G (p.Val356Gly) c.776T>G (p.Val259Gly) c.77-3603T>G (n.77-3603T>G) | |
16 | g.51141155A>G | CA395889721 | SALL1 | c.1067T>C (p.Val356Ala) c.776T>C (p.Val259Ala) c.77-3603T>C (n.77-3603T>C) | dbSNP |
16 | g.51141155A>T | CA395889722 | SALL1 | c.1067T>A (p.Val356Glu) c.776T>A (p.Val259Glu) c.77-3603T>A (n.77-3603T>A) |