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.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) |